Publikationen

2015

AG Mentale Retardierung

Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, Vasli N, Rafiq MA, Brohi MQ, Mikhailov A, Ayaz M, Bhatti A, Sticht H, Nasr T, Carter MT, Uebe S, Reis A, Ayub M, John P, Kiledjian M, Vincent JB, Abou Jamra R. Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. Hum Mol Genet. 2015 Jun 1;24(11):3172-80. doi: 10.1093/hmg/ddv069. Epub 2015 Feb 20.

2014

AG Dystonie

Cheng F, Walter M, Bonin M, Riess O, Ott T, Grundmann K. Dystonia 6 associated THAP1 mutations affect genes in vesicular transport and exocytosis in neuronal cells. Mov Disord. 2014 29 1: S494-S94.

Cheng FB, Feng JC, Ma LY, Miao J, Ott T, Wan XH, Grundmann K. Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia. Mov Disord. 2014 29(8): 1079-83.

Dufke C, Sturm M, Schroeder C, Moll S, Ott T, Riess O, Bauer P, Grundmann K. Screening of mutations in GNAL in sporadic dystonia patients. Mov Disord. 2014 29(9): 1193-6.

Fabry B, Lotzer L, Ott T, Grundmann K, Riess O. Effect of TorsinA on neurite outgrowth. Mov Disord. 2014 29 1: S499-S99.

Grundmann K, Sohn A, Sturm M, Riess O, Bauer P. Diagnosing dystonia using a next-generation-sequencing gene panel. Mov Disord. 2014 29 1: S503-S04.

Hettich J, Ryan SD, de Souza ON, Saraiva Macedo Timmers LF, Tsai S, Atai NA, da Hora CC, Zhang X, Kothary R, Snapp E et al. Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A. Hum Mutat. 2014 35(9): 1101-13.

Nery FC, da Hora CC, Atai NA, Kim EY, Hettich J, Mempel TR, Breakefield XO, Irimia D. Microfluidic platform to evaluate migration of cells from patients with DYT1 dystonia. J Neurosci Methods. 2014 232: 181-8.

Zheng M, Fabry B, Lotzer L, Scoles D, Pulst S, Riess O, Ott T, Grundmann-Hauser K. TorsinA plays a role in TNF alpha induced apoptosis via interacting with Bri3 protein. Mov Disord. 2014 29 1: S534-S34.

AG Genomik

Dufke A, Riess O. Preconception and prenatal clinical genome sequencing. Med Genet. 2014 26(4): 405-10.

Ganos C, Zittel S, Minnerop M, Schunke O, Heinbokel C, Gerloff C, Zühlke C, Bauer P, Klockgether T, Münchau A et al. Clinical and neurophysiological profile of four German families with spinocerebellar ataxia type 14. Cerebellum. 2014 13(1): 89-96.

Harzer K, Beck-Wödl S, Bauer P. Niemann-pick disease type C: new aspects in a long published family - partial manifestations in heterozygotes. JIMD Rep. 2014 12: 25-9.

Klein HG, Bauer P, Hambuch T. Whole genome sequencing (WGS), whole exome sequencing (WES) and clinical exome sequencing (CES) in patient care. LaboratoriumsMedizin. 2014 38(4): 221-30.

Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M et al. The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain. 2014 137(Pt 2): 411-9.

Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M et al. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet. 2014 46(9): 989-93.

Nalls MA, Saad M, Noyce AJ, Keller MF, Schrag A, Bestwick JP, Traynor BJ, Gibbs JR, Hernandez DG, Cookson MR et al. Genetic comorbidities in Parkinson's disease. Hum Mol Genet. 2014 23(3): 831-41.

Schlipf NA, Schüle R, Klimpe S, Karle KN, Synofzik M, Wolf J, Riess O, Schöls L, Bauer P. AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia. Mol Genet Genomic Med. 2014 2(5): 379-82.

Schultz S, Neubauer H, Bartsch H, Sotlar K, Petat-Dutter K, Bonin M, Poths S, Walter M, Riess O, Wallwiener D et al. Differential Expression of Transcripts and microRNAs during the Progression of Breast Cancer. Oncology Research and Treatment. 2014 37 1: 67-68.

Schultz S, Neubauer H, Bartsch H, Sotlar K, Petat-Dutter K, Bonin M, Poths S, Walter M, Riess O, Wallwiener D et al. Hsa-miR-199a-5p is functionally relevant in progression from ductal carcinoma in situ to invasive breast tumours. Oncology Research and Treatment. 2014 37 1: 68-68.

Sharkia R, Mahajnah M, Zalan A, Sourlis C, Bauer P, Schöls L. Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report. J Med Case Reports. 2014 8: 78.

Spiegler S, Najm J, Liu J, Gkalympoudis S, Schröder W, Borck G, Brockmann K, Elbracht M, Fauth C, Ferbert A et al. High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors. Mol Genet Genomic Med. 2014 2(2): 176-85.

Synofzik M, Born C, Rominger A, Lummel N, Schöls L, Biskup S, Schüle C, Grasshoff U, Klopstock T, Adamczyk C. Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease. Neurobiol Aging. 2014 35(5): 1212.e1-5.

Synofzik M, Müller vom Hagen J, Haack TB, Wilhelm C, Lindig T, Beck-Wödl S, Nabuurs SB, van Kuilenburg AB, de Brouwer AP, Schöls L. X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. Orphanet J Rare Dis. 2014 9: 24.

Synofzik M, Schüle R, Schulze M, Gburek-Augustat J, Schweizer R, Schirmacher A, Krägeloh-Mann I, Gonzalez M, Young P, Züchner S et al. Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts. Orphanet J Rare Dis. 2014 9: 57.

Szolek A, Schubert B, Mohr C, Sturm M, Feldhahn M, Kohlbacher O. OptiType: precision HLA typing from next-generation sequencing data. Bioinformatics. 2014 30(23): 3310-6.

Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C et al. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain. 2014 137(Pt 9): 2444-55.

Tezenas du Montcel S, Durr A, Rakowicz M, Nanetti L, Charles P, Sulek A, Mariotti C, Rola R, Schols L, Bauer P et al. Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6. J Med Genet. 2014 51(7): 479-86.

Wictorin K, Brådvik B, Nilsson K, Soller M, van Westen D, Bynke G, Bauer P, Schöls L, Puschmann A. Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: a novel entity? Parkinsonism Relat Disord. 2014 20(7): 748-54.

AG Huntington

Clemens LE, Jansson EK, Portal E, Riess O, Nguyen HP. A behavioral comparison of the common laboratory rat strains Lister Hooded, Lewis, Fischer 344 and Wistar in an automated homecage system. Genes Brain Behav. 2014 13(3): 305-21.

Eckmann J, Clemens LE, Eckert SH, Hagl S, Yu-Taeger L, Bordet T, Pruss RM, Muller WE, Leuner K, Nguyen HP et al. Mitochondrial membrane fluidity is consistently increased in different models of Huntington disease: restorative effects of olesoxime. Mol Neurobiol. 2014 50(1): 107-18.

Jansson EK, Clemens LE, Riess O, Nguyen HP. Reduced motivation in the BACHD rat model of Huntington disease is dependent on the choice of food deprivation strategy. PLoS ONE. 2014 9(8): e105662.

Urbach YK, Raber KA, Canneva F, Plank AC, Andreasson T, Ponten H, Kullingsjö J, Nguyen HP, Riess O, von Hörsten S. Automated phenotyping and advanced data mining exemplified in rats transgenic for Huntington's disease. J Neurosci Methods. 2014 234: 38-53.

AG Mental Retardation

Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, Sticht H, Schwarze B, Lamont RE, Parboosingh JS, Bernier FP, Abou Jamra R. A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. Am J Hum Genet. 2014 Nov 6;95(5):602-10. doi: 10.1016/j.ajhg.2014.10.003. Epub 2014 Oct 30.

Dreha-Kulaczewski S, Kalscheuer V, Tzschach A, Hu H, Helms G, Brockmann K, Weddige A, Dechent P, Schlüter G, Krätzner R et al. A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females. JIMD Rep. 2014 13: 91-9.

Kehrer M, Beckmann A, Wyduba J, Finckh U, Dufke A, Gaiser U, Tzschach A. Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. Clin Genet. 2014 85(5): 498-9.

Maier A, Klopocki E, Horn D, Tzschach A, Holm T, Meyer R, Meyer T. De novo partial deletion in GRID2 presenting with complicated spastic paraplegia. Muscle Nerve. 2014 49(2): 289-92.

Oehl-Jaschkowitz B, Vanakker OM, De Paepe A, Menten B, Martin T, Weber G, Christmann A, Krier R, Scheid S, McNerlan SE et al. Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability. Am J Med Genet A. 2014 164((A)3): 620-6.

Poulton CJ, Schot R, Seufert K, Lequin MH, Accogli A, Annunzio GD, Villard L, Philip N, de Coo R, Catsman-Berrevoets C et al. Severe presentation of WDR62 mutation: is there a role for modifying genetic factors? Am J Med Genet A. 2014 164A(9): 2161-71.

AG Onkogenetik

Schroeder C, Ekici AB, Moog U, Grasshoff U, Mau-Holzmann U, Sturm M, Vosseler V, Poths S, Rappold G, Riess A et al. Genome-wide UPD screening in patients with intellectual disability. Eur J Hum Genet. 2014 22(10): 1233-5.

Schroeder C, Riess A, Bonin M, Bauer P, Riess O, Döbler-Neumann M, Wieser S, Moog U, Tzschach A. PIK3R1 mutations in SHORT syndrome. Clin Genet. 2014 86(3): 292-4.

Schroeder C, Sturm M, Junker S, Bitzer M, Malek N, Sipos B, Rammensee HG, Riess O, Bauer P. Detection of somatic mutations by next-generation sequencing in a clinical setting. Oncology Research and Treatment. 2014 37 1: 9-9.

AG Parkinson

Burbulla LF, Fitzgerald JC, Stegen K, Westermeier J, Thost AK, Kato H, Mokranjac D, Sauerwald J, Martins LM, Woitalla D et al. Mitochondrial proteolytic stress induced by loss of mortalin function is rescued by Parkin and PINK1. Cell Death Dis. 2014 5: e1180.

Casadei N, Pöhler AM, Tomás-Zapico C, Torres-Peraza J, Schwedhelm I, Witz A, Zamolo I, De Heer R, Spruijt B, Noldus LP et al. Overexpression of synphilin-1 promotes clearance of soluble and misfolded alpha-synuclein without restoring the motor phenotype in aged A30P transgenic mice. Hum Mol Genet. 2014 23(3): 767-81.

Dong J, Gao J, Nalls M, Gao X, Huang X, Han J, Singleton AB, Chen H, International Parkinson's Disease Genomics C, Nalls MA et al. Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease. Neurobiol Aging. 2014 35(6): 1512.e5-10.

Schlipf NA, Schüle R, Klimpe S, Karle KN, Synofzik M, Wolf J, Riess O, Schöls L, Bauer P. AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia. Mol Genet Genomic Med. 2014 Sep;2(5):379-82. doi: 10.1002/mgg3.87. Epub 2014 May 25.

Mascalzoni D, Dove ES, Rubinstein Y, Dawkins HJ, Kole A, McCormack P, Woods S, Riess O, Schaefer F, Lochmüller H, Knoppers BM, Hansson M. International Charter of principles for sharing bio-specimens and data. Eur J Hum Genet. 2014 Sep 24. doi: 10.1038/ejhg.2014.197.

Jansson EK, Clemens LE, Riess O, Nguyen HP. Reduced motivation in the BACHD rat model of Huntington disease is dependent on the choice of food deprivation strategy. PLoS One. 2014 Aug 21;9(8):e105662. doi: 10.1371/journal.pone.0105662. eCollection 2014.

Gispert S, Kurz A, Brehm N, Rau K, Walter M, Riess O, Auburger G. Complexin-1 and Foxp1 Expression Changes Are Novel Brain Effects of Alpha-Synuclein Pathology. Mol Neurobiol. 2014 Aug 12. [Epub ahead of print]

Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics Research Consortium (NGRC); Hussman Institute of Human Genomics (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC); Greek Parkinson's Disease Consortium; Alzheimer Genetic Analysis Group, Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet. 2014 Sep;46(9):989-93. doi: 10.1038/ng.3043. Epub 2014 Jul 27.

Urbach YK, Raber KA, Canneva F, Plank AC, Andreasson T, Ponten H, Kullingsjö J, Nguyen HP, Riess O, von Hörsten S. Automated phenotyping and advanced data mining exemplified in rats transgenic for Huntington's disease. J Neurosci Methods. 2014 Aug 30;234:38-53. doi: 10.1016/j.jneumeth.2014.06.017. Epub 2014 Jul 11.

Walker MD, Volta M, Cataldi S, Dinelle K, Beccano-Kelly D, Munsie L, Kornelsen R, Mah C, Chou P, Co K, Khinda J, Mroczek M, Bergeron S, Yu K, Cao LP, Funk N, Ott T, Galter D, Riess O, Biskup S, Milnerwood AJ, Stoessl AJ, Farrer MJ, Sossi V. Behavioral deficits and striatal DA signaling in LRRK2 p.G2019S transgenic rats: a multimodal investigation including PET neuroimaging. J Parkinsons Dis. 2014;4(3):483-98. doi: 10.3233/JPD-140344.

Schroeder C, Ekici AB, Moog U, Grasshoff U, Mau-Holzmann U, Sturm M, Vosseler V, Poths S, Rappold G, Riess A, Riess O, Dufke A, Bonin M. Genome-wide UPD screening in patients with intellectual disability. Eur J Hum Genet. 2014 Oct;22(10):1233-5. doi: 10.1038/ejhg.2014.63. Epub 2014 May 7.

Diepenbroek M, Casadei N, Esmer H, Saido TC, Takano J, Kahle PJ, Nixon RA, Rao MV, Melki R, Pieri L, Helling S, Marcus K, Krueger R, Masliah E, Riess O, Nuber S. Overexpression of the calpain-specific inhibitor calpastatin reduces human alpha-Synuclein processing, aggregation and synaptic impairment in [A30P]αSyn transgenic mice. Hum Mol Genet. 2014 Aug 1;23(15):3975-89. doi: 10.1093/hmg/ddu112. Epub 2014 Mar 11.

Dufke C, Sturm M, Schroeder C, Moll S, Ott T, Riess O, Bauer P, Grundmann K. Screening of mutations in GNAL in sporadic dystonia patients. Mov Disord. 2014 Aug;29(9):1193-6. doi: 10.1002/mds.25794. Epub 2014 Jan 9.

AG SCA Typ 3

Matilla-Dueñas A, Ashizawa T, Brice A, Magri S, McFarland KN, Pandolfo M, Pulst SM, Riess O, Rubinsztein DC, Schmidt J et al. Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias. Cerebellum. 2014 13(2): 269-302.

Weber JJ, Sowa AS, Binder T, Hübener J. From pathways to targets: understanding the mechanisms behind polyglutamine disease. Biomed Res Int. 2014 2014: 701758.

AG Transkriptomik

Abbasi A, Hauth M, Walter M, Hudemann J, Wank V, Niess AM, Northoff H. Exhaustive exercise modifies different gene expression profiles and pathways in LPS-stimulated and un-stimulated whole blood cultures. Brain Behav Immun. 2014 39: 130-41.

Beilina A, Rudenko IN, Kaganovich A, Civiero L, Chau H, Kalia SK, Kalia LV, Lobbestael E, Chia R, Ndukwe K et al. Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease. Proc Natl Acad Sci U S A. 2014 111(7): 2626-31.

Biron-Shental T, Sukenik-Halevy R, Bonin M, Shtorch-Asor A, Kaiser M, Amiel A. Clinically significant genomic alterations are enhanced in placentas from pregnancies with fetal growth restriction (FGR)-preliminary results. Am J Obstet Gynecol. 2014 210 S(1): S95-S95.

Conrad S, Azizi H, Hatami M, Kubista M, Bonin M, Hennenlotter J, Renninger M, Skutella T. Differential gene expression profiling of enriched human spermatogonia after short- and long-term culture. Biomed Res Int. 2014 2014: 138350.

Del Turco D, Schlaudraff J, Bonin M, Deller T. Upregulation of APP, ADAM10 and ADAM17 in the denervated mouse dentate gyrus. PLoS ONE. 2014 9(1): e84962.

Freischmidt A, Müller K, Zondler L, Weydt P, Volk AE, Bo?i AL, Walter M, Bonin M, Mayer B, von Arnim CA et al. Serum microRNAs in patients with genetic amyotrophic lateral sclerosis and pre-manifest mutation carriers. Brain. 2014 137(Pt 11): 2938-50.

AG Cytogenetik

Raeth S, Sacchetti B, Siegel G, Mau-Holzmann UA, Hansmann J, Vacun G, Hauk TG, Pfizenmaier K, Hausser A. A mouse bone marrow stromal cell line with skeletal stem cell characteristics to study osteogenesis in vitro and in vivo. Stem Cells Dev. 2014 23(10):1097-108.

Zentrum für seltene Erkrankungen

Storf H, Hartz T, Tegtbauer N, Pfeiffer W, Schmidtke J, Graessner H, Wagner T,Uckert F. Vision and challenges of a cartographic representation of expert medical cantres for rare diseases. Stud Health Technol Inform.2014 205: 677-81.

2013

AG Mental Retardation

Buchert R, Uebe S, Radwan F, Tawamie H, Issa S, Shimazaki H, Henneke M, Ekici AB, Reis A, Abou Jamra R. Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation. Eur J Med Genet. 2013 Nov;56(11):599-602. doi: 10.1016/j.ejmg.2013.09.010. Epub 2013 Sep 28.

AG Parkinson

Schlipf NA, Schüle R, Klimpe S, Karle KN, Synofzik M, Wolf J, Riess O, Schöls L, Bauer P. AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia. Mol Genet Genomic Med. 2014 Sep;2(5):379-82. doi: 10.1002/mgg3.87. Epub 2014 May 25.

Mascalzoni D, Dove ES, Rubinstein Y, Dawkins HJ, Kole A, McCormack P, Woods S, Riess O, Schaefer F, Lochmüller H, Knoppers BM, Hansson M. International Charter of principles for sharing bio-specimens and data. Eur J Hum Genet. 2014 Sep 24. doi: 10.1038/ejhg.2014.197.

Jansson EK, Clemens LE, Riess O, Nguyen HP. Reduced motivation in the BACHD rat model of Huntington disease is dependent on the choice of food deprivation strategy. PLoS One. 2014 Aug 21;9(8):e105662. doi: 10.1371/journal.pone.0105662. eCollection 2014.

Gispert S, Kurz A, Brehm N, Rau K, Walter M, Riess O, Auburger G. Complexin-1 and Foxp1 Expression Changes Are Novel Brain Effects of Alpha-Synuclein Pathology. Mol Neurobiol. 2014 Aug 12. [Epub ahead of print]

Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics Research Consortium (NGRC); Hussman Institute of Human Genomics (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC); Greek Parkinson's Disease Consortium; Alzheimer Genetic Analysis Group, Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet. 2014 Sep;46(9):989-93. doi: 10.1038/ng.3043. Epub 2014 Jul 27.

Urbach YK, Raber KA, Canneva F, Plank AC, Andreasson T, Ponten H, Kullingsjö J, Nguyen HP, Riess O, von Hörsten S. Automated phenotyping and advanced data mining exemplified in rats transgenic for Huntington's disease. J Neurosci Methods. 2014 Aug 30;234:38-53. doi: 10.1016/j.jneumeth.2014.06.017. Epub 2014 Jul 11.

Walker MD, Volta M, Cataldi S, Dinelle K, Beccano-Kelly D, Munsie L, Kornelsen R, Mah C, Chou P, Co K, Khinda J, Mroczek M, Bergeron S, Yu K, Cao LP, Funk N, Ott T, Galter D, Riess O, Biskup S, Milnerwood AJ, Stoessl AJ, Farrer MJ, Sossi V. Behavioral deficits and striatal DA signaling in LRRK2 p.G2019S transgenic rats: a multimodal investigation including PET neuroimaging. J Parkinsons Dis. 2014;4(3):483-98. doi: 10.3233/JPD-140344.

Schroeder C, Ekici AB, Moog U, Grasshoff U, Mau-Holzmann U, Sturm M, Vosseler V, Poths S, Rappold G, Riess A, Riess O, Dufke A, Bonin M. Genome-wide UPD screening in patients with intellectual disability. Eur J Hum Genet. 2014 Oct;22(10):1233-5. doi: 10.1038/ejhg.2014.63. Epub 2014 May 7.

Diepenbroek M, Casadei N, Esmer H, Saido TC, Takano J, Kahle PJ, Nixon RA, Rao MV, Melki R, Pieri L, Helling S, Marcus K, Krueger R, Masliah E, Riess O, Nuber S. Overexpression of the calpain-specific inhibitor calpastatin reduces human alpha-Synuclein processing, aggregation and synaptic impairment in [A30P]αSyn transgenic mice. Hum Mol Genet. 2014 Aug 1;23(15):3975-89. doi: 10.1093/hmg/ddu112. Epub 2014 Mar 11.

Dufke C, Sturm M, Schroeder C, Moll S, Ott T, Riess O, Bauer P, Grundmann K. Screening of mutations in GNAL in sporadic dystonia patients. Mov Disord. 2014 Aug;29(9):1193-6. doi: 10.1002/mds.25794. Epub 2014 Jan 9.

Häbig K, Gellhaar S, Heim B, Djuric V, Giesert F, Wurst W, Walter C, Hentrich T, Riess O, Bonin M. LRRK2 guides the actin cytoskeleton at growth cones together with ARHGEF7 and Tropomyosin 4. Biochim Biophys Acta. 2013 Dec;1832(12):2352-67. doi: 10.1016/j.bbadis.2013.09.009. Epub 2013 Sep 24.

Oliveras-Salvá M, Van der Perren A, Casadei N, Stroobants S, Nuber S, D'Hooge R, Van den Haute C, Baekelandt V. rAAV2/7 vector-mediated overexpression of alpha-synuclein in mouse substantia nigra induces protein aggregation and progressive dose-dependent neurodegeneration. Mol Neurodegener. 2013 Nov 25;8:44. doi: 10.1186/1750-1326-8-44.

Casadei N, Pöhler AM, Tomás-Zapico C, Torres-Peraza J, Schwedhelm I, Witz A, Zamolo I, De Heer R, Spruijt B, Noldus LP, Klucken J, Lucas JJ, Kahle PJ, Krüger R, Riess O, Nuber S. Overexpression of synphilin-1 promotes clearance of soluble and misfolded alpha-synuclein without restoring the motor phenotype in aged A30P transgenic mice. Hum Mol Genet. 2014 Feb 1;23(3):767-81. doi: 10.1093/hmg/ddt467. Epub 2013 Sep 24.

Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D; REGISTRY Investigators of the European Huntington’s Disease Network, Nguyen HP. The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients. PLoS One. 2013 Jul 22;8(7):e68951. doi: 10.1371/journal.pone.0068951. Print 2013.

Marxreiter F, Ettle B, May VE, Esmer H, Patrick C, Kragh CL, Klucken J, Winner B, Riess O, Winkler J, Masliah E, Nuber S. Glial A30P alpha-synuclein pathology segregates neurogenesis from anxiety-related behavior in conditional transgenic mice. Neurobiol Dis. 2013 Nov;59:38-51. doi: 10.1016/j.nbd.2013.07.004. Epub 2013 Jul 16.

Kelp A, Koeppen AH, Petrasch-Parwez E, Calaminus C, Bauer C, Portal E, Yu-Taeger L, Pichler B, Bauer P, Riess O, Nguyen HP. A novel transgenic rat model for spinocerebellar ataxia type 17 recapitulates neuropathological changes and supplies in vivo imaging biomarkers. J Neurosci. 2013 May 22;33(21):9068-81. doi: 10.1523/JNEUROSCI.5622-12.2013.

Portal E, Riess O, Nguyen HP. Automated home cage assessment shows behavioral changes in a transgenic mouse model of spinocerebellar ataxia type 17. Behav Brain Res. 2013 Aug 1;250:157-65. doi: 10.1016/j.bbr.2013.04.042. Epub 2013 May 7.

Nguyen HP, Hübener J, Weber JJ, Grueninger S, Riess O, Weiss A. Cerebellar soluble mutant ataxin-3 level decreases during disease progression in Spinocerebellar Ataxia Type 3 mice. PLoS One. 2013 Apr 23;8(4):e62043. doi: 10.1371/journal.pone.0062043. Print 2013.

Kehrer M, Singer S, Grasshoff U, Schäferhoff K, Bonin M, Riess O, Schöning M, Tzschach A. 12q24.33 deletion: report of a patient with intellectual disability and review of the literature. Am J Med Genet A. 2013 Jun;161A(6):1409-13. doi: 10.1002/ajmg.a.35877. Epub 2013 Apr 23. Review.

Schroeder C, Sturm M, Dufke A, Mau-Holzmann U, Eggermann T, Poths S, Riess O, Bonin M. UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays. Bioinformatics. 2013 Jun 15;29(12):1562-4. doi: 10.1093/bioinformatics/btt174. Epub 2013 Apr 14.

Gazou A, Riess A, Grasshoff U, Schäferhoff K, Bonin M, Jauch A, Riess O, Tzschach A. Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability. Am J Med Genet A. 2013 Apr;161A(4):860-4. doi: 10.1002/ajmg.a.35778. Epub 2013 Mar 12.

Moorjani P, Patterson N, Loh PR, Lipson M, Kisfali P, Melegh BI, Bonin M, Kádaši L, Rieß O, Berger B, Reich D, Melegh B. Reconstructing Roma history from genome-wide data. PLoS One. 2013;8(3):e58633. doi: 10.1371/journal.pone.0058633. Epub 2013 Mar 13.

Nuber S, Harmuth F, Kohl Z, Adame A, Trejo M, Schönig K, Zimmermann F, Bauer C, Casadei N, Giel C, Calaminus C, Pichler BJ, Jensen PH, Müller CP, Amato D, Kornhuber J, Teismann P, Yamakado H, Takahashi R, Winkler J, Masliah E, Riess O. A progressive dopaminergic phenotype associated with neurotoxic conversion of α-synuclein in BAC-transgenic rats. Brain. 2013 Feb;136(Pt 2):412-32. doi: 10.1093/brain/aws358.

AG Transkriptomik

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Holmans P, Moskvina V, Jones L, Sharma M; International Parkinson's Disease Genomics Consortium, Vedernikov A, Buchel F, Sadd M, Bras JM, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Gibbs JR, Schulte C, Durr A, Guerreiro R, Hernandez D, Brice A, Stefánsson H, Majamaa K, Gasser T, Heutink P, Wood NW, Martinez M, Singleton AB, Nalls MA, Hardy J, Morris HR, Williams NM. Hum Mol Genet. 2013 Mar 1;22(5):1039-49. doi: 10.1093/hmg/dds492.

High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections. Kathiravel U, Keyser B, Hoffjan S, Kötting J, Müller M, Sivalingam S, Bonin M, Arslan-Kirchner M, von Kodolitsch Y, Binner P, Scheffold T, Stuhrmann M, Waldmüller S. Mol Cell Probes. 2013 Apr;27(2):103-8. doi: 10.1016/j.mcp.2012.10.002.

No effect of the transforming growth factor 1 promoter polymorphism C-509T on TGFB1 gene expression, protein secretion, or cellular radiosensitivity. Reuther S, Metzke E, Bonin M, Petersen C, Dikomey E, Raabe A.Int J Radiat Oncol Biol Phys. 2013 Feb 1;85(2):460-5. doi: 10.1016/j.ijrobp.2012.01.090.

Genomics of ADME gene expression: mapping expression quantitative trait loci relevant for absorption, distribution, metabolism and excretion of drugs in human liver. Schröder A, Klein K, Winter S, Schwab M, Bonin M, Zell A, Zanger UM. Pharmacogenomics J. 2013 Feb;13(1):12-20. doi: 10.1038/tpj.2011.44.

VPA response in SMA is suppressed by the fatty acid translocase CD36. Garbes L, Heesen L, Hölker I, Bauer T, Schreml J, Zimmermann K, Thoenes M, Walter M, Dimos J, Peitz M, Brüstle O, Heller R, Wirth B. Hum Mol Genet. 2013 Jan 15;22(2):398-407. doi: 10.1093/hmg/dds437.

2012

AG Dystonie

Palada V, Stiern S, Glöckle N, Gomez-Garre P, Carrillo F, Mir P, Szczaluba K, Tinazzi M, Ajena D, Romani M, Valente EM, Müller U, Bauer P, Riess O, Ott T, Grundmann K. Lack of Sequence Variations in THAP1 Gene and THYP1-Binding Sites in TOR1A Promoter of DYT1 Patients. Mov Disord. 2012 Jun;27(7):917. doi: 10.1002/mds.24974. Epub 2012 Apr 16.

Grundmann K, Glöckle N, Martella G, Sciamanna G, Hauser T-K, Yu L, Castaneda S, Pichlwer B, Fehrenbaher B, Schaller M, Nuscher B, Haass C, Hettich J, Yue Z, Nguyen HP, Pisani A, Riess O, Ott T. Generation of a novel rodent model for DYT1 dystonia. Neurobiol Dis. 2012 Jul;47(1):61-74. doi: 10.1016/j.nbd.2012.03.024. Epub 2012 Mar 26.

Wei T, Schubert T, Paquet-Durand F, Tanimoto N, Chang L, Koeppen K, Ott T, Griesbeck O, Seeliger MW, Euler T, Wissinger B. Light-Driven Calcium Signals in Mouse Cone Photoreceptors. J Neurosci. 2012 May 16;32(20):6981-94. doi: 10.1523/JNEUROSCI.6432-11.2012.

AG Genomik

Bauer P, Leshinsky-Silver E, Blumkin L, Schlipf N, Schröder C, Schicks J, Lev D, Riess O, Lerman-Sagie T, Schöls L. Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47). Neurogenetics. 2012 Jan 31. [Epub ahead of print] PubMed PMID: 22290197. IF 3,488

Quarrell OW, Handley O, O'Donovan K, Dumoulin C, Ramos-Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB. Discrepancies in reporting the CAG repeat lengths for Huntington's disease. Eur J Hum Genet. 2012; 20:20-6. IF 4,380

Gispert S, Kurz A, Waibel S, Bauer P, Liepelt I, Geisen C, Gitler AD, Becker T, Weber M, Berg D, Andersen PM, Krüger R, Riess O, Ludolph AC, Auburger G. The modulation of Amyotrophic Lateral Sclerosis risk by Ataxin-2 intermediate polyglutamine expansions is a specific effect. Neurobiol Dis. 2012; 45:356-61. IF 5,121

Schubert J, Paravidino R, becker F, Berger A, Bebek N, Bianchi A, Brockmann K, Capovilla G, Dalla Bernardina B, Fukuyama Y, Hoffmann GF, Jurkatt-Rott K, Antonnen AK, Kurlemann G, Lehejoki AE, Lehmann-Horn F, Mastrangelo M, Mause U, Müller S, Neubauer B, Püst B, Rating D, Robbiano A, Ruf S, et al. PRRT2 mutations are the major cause of benign familial infantile seizures (BFIS). Hum Mutat. 2012 Oct;33(10):1439-43. doi: 10.1002/humu.22126. Epub 2012 Jun 11.

Jonsson T, Atwal J, Steinberg S, Snaedal J, Jonsson P, Bjornsson S, Stefansson H, Sulem P, Gudbjartsson D, Maloney J, Hoyte K, Gustafson A, Liu Y, Lu Y, Bhangale T, Graham R, Huttenlocher J, Bjornsdottir G, Andreassen O, Jönsson E, Palotie A, Behrens T, Magnusson O, Kong A, Thorsteinsdottir U. A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. Nature. 2012 Aug 2;488(7409):96-9. doi: 10.1038/nature11283.

Brüggeman N, Külper W, Hagenah J, Bauer P, Pattaro C, Tadic V, Lohnau T, Winkler S, Tönnies H, Sprenger A, Pramstaller P, Rolfs A, Siebert R, Riess O, Vieregge P, Lohmann K, Klein C. Autosomal dominant Parkinson's disease in a large German pedigree. Acta Neurol Scand. 2012 Aug;126(2):129-37. doi: 10.1111/j.1600-0404.2011.01621.x. Epub 2011 Nov 23.

Steinberg S, de Jong S, Mattheisen M, Costas J, Demontis D, Jamain S, Pietiläinen OPH, Lin K, Papiol S, Huttenlocher J, et al. Common variant at 16p11.2 conferring risk of psychosis. Mol Psychiatry. 2012 Nov 20. doi: 10.1038/mp.2012.157. [Epub ahead of print].

Reetz k, Costa AS, Mirzazade S, Lehmann A, Juzek A, Rakowicz M, Boguslawska R, Schöls L, Linnemann C, Mariotti C, Grisoli M, Dürr A, van de Warrenburg BP, Timmann D, Pandolfo M, Bauer P, Jacobi H, Hauser T-k, Klockgether T, Schulz JB. Genotype specific patterns of atrophy progresion is more sensitive than clinical decline in SCA1, SCA3 and SCA6. Brain. 2013 Mar;136(Pt 3):905-17. doi: 10.1093/brain/aws369. Epub 2013 Feb 18.

AG Huntington

Daniel J Klionsky , Nguyen HP, et al. Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy. 2012 Apr;8(4):445-544.

Springer F, Ehehalt S, Sommer J, Ballweg V, Machann J, Binder G, Claussen CD, Schick F, Diskus Study Group. Predicting volumes of metabolically important whole-body adipose tissue compartments in overweight and obese adoloescents by different MRI approaches and anthropometry. Eur J Radiol. 2012 Jul;81(7):1488-94. doi: 10.1016/j.ejrad.2011.04.006. Epub 2011 May 4.

Schum J, Blumenstock G, Weber K, Schweizer R, Pfaff C, Schurr N, Ranke MB, Binder G, Ehehalt S, Diskus Study Group. Variants of the FTO Gene in Obese Children and their Impact on Body Composition and Metabolism before and after Lifestyle Intervention. Exp Clin Endocrinol Diabetes. 2012 Mar;120(3):128-31. doi: 10.1055/s-0031-1295403. Epub 2011 Dec 20.

Ortiz AN, Osterhaus GL, Lauderdale K, Mahoney L, Fowler SC, von Hörsten S, Riess O, Johnson MA. Motor function and dopamine release measurements in transgenetic Huntington's disease model rats. Brain Res. 2012 Apr 23;1450:148-56. doi: 10.1016/j.brainres.2012.02.042. Epub 2012 Feb 24.

Antonsen BT, Jiang Y, Veraart J, Qu H, Nguyen HP, Sijbers J, von Hörsten S, Johnsin GA, Leergaard TB. Altered diffusion tensor imaging measurements in aged transgenic Huntington disease rats. Brain Struct Funct. 2012 May 23. [Epub ahead of print]

Tsai Y-C, Metzger S, Riess O, Soehn AS, Nguyen HP. Genetic analysis of polymorphisms in the karlirin gene for association with age-at-onset in European Huntington disease patients. BMC Med Genet. 2012 Jun 21;13:48. doi: 10.1186/1471-2350-13-48.

Tsai Y-C, Riess O, Soehn AS, Hguyen HP. The Guanine Nucleotide Exchange Factor Kalirin-7 is a Novel Synphilin-1 Aggregate Transport and Formation. PLoS One. 2012;7(12):e51999. doi: 10.1371/journal.pone.0051999. Epub 2012 Dec 20.

Yu-Taeger L, Petrasch-Parwez E, Osmand AP, Redesek A, Metzger S, Clemens LE, Park L, Howland D, Calaminus C, Gu X, Pichler B, Yang YW, Riess O, Nguyen HP. J Neurosci. 2012 Oct 31;32(44):15426-38. doi: 10.1523/JNEUROSCI.1148-12.2012.

AG Mental Retardation

Hoyer J, Ekici AB, Endele S, Popp B, Zweier C, Wiesener A, Wohlleber E, Dufke A, Rossier E, Petsch C, Zweier M, Göhring I, Zink MA, Rappold G, Schröck E, Wieczorek D, Riess O, Engels H, Rauch A, Reis A. Haploinsuffiency of ARID1B, a Member of the SWI/SNF-A Chromatin Remodeling Complex, Is a Frequent Cause of Intellectual Disability. Am J Hum Genet. 2012 Mar 9;90(3):565-72. doi: 10.1016/j.ajhg.2012.02.007.

Riess A, Dufke A, Riess O, Beck-Woedl S, Fode B, Skladny H, Klaes R, Tzschach A. Mirror-image Asymmetry in Monozugotic Twins with Kabuki Syndrome. Mol Syndromol. 2012 Aug;3(2):94-7. doi: 10.1159/000341251. Epub 2012 Jul 25.

Rauch A, Wieczorek D, Graf E, Dufke A, Riess A, Thiel C, Tzschach A, Wiesner A, Wohlleber E, Zweier C, Riess O, Ekici A, Zink A. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012 Nov 10;380(9854):1674-82. doi: 10.1016/S0140-6736(12)61480-9. Epub 2012 Sep 27.

Tzschach A, Grasshoff U, Schäferhoff K, Bonin M, Dufke A, Wolff M, Haas-Lude K, Bevot A, Riess O. Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate. Am J Med Genet A. 2012 Jul;158A(7):1709-12. doi: 10.1002/ajmg.a.35398. Epub 2012 May 25.

di Donato N, Riess A, Hackmann K, Rump A, Huebner A, von der Hagen M, Hahn G, Schock E, Tinschert S. Macrocephaly, Obesity, Mental (Intellectual) Disability, and Ocular Abnormalities: Alternative Definition and Further Delineation of MONO Syndrome. Am J Med Genet A. 2012 Nov;158A(11):2857-62. doi: 10.1002/ajmg.a.35481. Epub 2012 Jul 20.

Höckner M, Spreiz A, Frühmesser A, Tzschach A, Dufke A, Rittinger O, Kalscheuer V, Singer S, Erdel M, Fauth C, Grossmann V, Utermann G, Zschocke J, Kotzot D. Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations. Cytogenet Genome Res. 2012;136(4):242-5. doi: 10.1159/000337923. Epub 2012 Apr 18.

Rainger J, Bengani H, Campbell L, Anderson E, Sokhi K, Lam W, Riess A, Ansari M, Smithson S, Lees M, Mercer C, McKenzie K, Lengfeld T, Querol BG, Branney P, McKay S, Morrison H, Medina B, Robertson M, Kohlhase J, Gordon C, Kirk J, Wieczorek D, Fitzpatrick DR. Miller (Genée-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. Hum Mol Genet. 2012 Sep 15;21(18):3969-83. doi: 10.1093/hmg/dds218. Epub 2012 Jun 12.

Riess A, Grasshoff U, Schäferhoff K, Bonin M, Riess O, Horber V, Tzschach A. Interstitial 3p25.3-p26.1 Deletion in a Patient With Intellectual Disability. Am J Med Genet A. 2012 Oct;158A(10):2587-90. doi: 10.1002/ajmg.a.35562. Epub 2012 Sep 10.

AG Onkogenetik

Armeau-Ebinger S, Wenz J, Seitz G, Leuschner I, Handgretinger R, Mau-Holzmann UA, Bonin M, Sipos B, Fuchs J, Warmann SW. Characterisation of the Cell Line HC-AFW1 Derived from a Pedriatic Hepatocellular Carcinoma. PLoS One. 2012;7(5):e38223. doi: 10.1371/journal.pone.0038223. Epub 2012 May 30.

AG Parkinson

Schlipf NA, Schüle R, Klimpe S, Karle KN, Synofzik M, Wolf J, Riess O, Schöls L, Bauer P. AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia. Mol Genet Genomic Med. 2014 Sep;2(5):379-82. doi: 10.1002/mgg3.87. Epub 2014 May 25.

Mascalzoni D, Dove ES, Rubinstein Y, Dawkins HJ, Kole A, McCormack P, Woods S, Riess O, Schaefer F, Lochmüller H, Knoppers BM, Hansson M. International Charter of principles for sharing bio-specimens and data. Eur J Hum Genet. 2014 Sep 24. doi: 10.1038/ejhg.2014.197.

Jansson EK, Clemens LE, Riess O, Nguyen HP. Reduced motivation in the BACHD rat model of Huntington disease is dependent on the choice of food deprivation strategy. PLoS One. 2014 Aug 21;9(8):e105662. doi: 10.1371/journal.pone.0105662. eCollection 2014.

Gispert S, Kurz A, Brehm N, Rau K, Walter M, Riess O, Auburger G. Complexin-1 and Foxp1 Expression Changes Are Novel Brain Effects of Alpha-Synuclein Pathology. Mol Neurobiol. 2014 Aug 12. [Epub ahead of print]

Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics Research Consortium (NGRC); Hussman Institute of Human Genomics (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC); Greek Parkinson's Disease Consortium; Alzheimer Genetic Analysis Group, Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet. 2014 Sep;46(9):989-93. doi: 10.1038/ng.3043. Epub 2014 Jul 27.

Urbach YK, Raber KA, Canneva F, Plank AC, Andreasson T, Ponten H, Kullingsjö J, Nguyen HP, Riess O, von Hörsten S. Automated phenotyping and advanced data mining exemplified in rats transgenic for Huntington's disease. J Neurosci Methods. 2014 Aug 30;234:38-53. doi: 10.1016/j.jneumeth.2014.06.017. Epub 2014 Jul 11.

Walker MD, Volta M, Cataldi S, Dinelle K, Beccano-Kelly D, Munsie L, Kornelsen R, Mah C, Chou P, Co K, Khinda J, Mroczek M, Bergeron S, Yu K, Cao LP, Funk N, Ott T, Galter D, Riess O, Biskup S, Milnerwood AJ, Stoessl AJ, Farrer MJ, Sossi V. Behavioral deficits and striatal DA signaling in LRRK2 p.G2019S transgenic rats: a multimodal investigation including PET neuroimaging. J Parkinsons Dis. 2014;4(3):483-98. doi: 10.3233/JPD-140344.

Schroeder C, Ekici AB, Moog U, Grasshoff U, Mau-Holzmann U, Sturm M, Vosseler V, Poths S, Rappold G, Riess A, Riess O, Dufke A, Bonin M. Genome-wide UPD screening in patients with intellectual disability. Eur J Hum Genet. 2014 Oct;22(10):1233-5. doi: 10.1038/ejhg.2014.63. Epub 2014 May 7.

Diepenbroek M, Casadei N, Esmer H, Saido TC, Takano J, Kahle PJ, Nixon RA, Rao MV, Melki R, Pieri L, Helling S, Marcus K, Krueger R, Masliah E, Riess O, Nuber S. Overexpression of the calpain-specific inhibitor calpastatin reduces human alpha-Synuclein processing, aggregation and synaptic impairment in [A30P]αSyn transgenic mice. Hum Mol Genet. 2014 Aug 1;23(15):3975-89. doi: 10.1093/hmg/ddu112. Epub 2014 Mar 11.

Dufke C, Sturm M, Schroeder C, Moll S, Ott T, Riess O, Bauer P, Grundmann K. Screening of mutations in GNAL in sporadic dystonia patients. Mov Disord. 2014 Aug;29(9):1193-6. doi: 10.1002/mds.25794. Epub 2014 Jan 9.

Häbig K, Gellhaar S, Heim B, Djuric V, Giesert F, Wurst W, Walter C, Hentrich T, Riess O, Bonin M. LRRK2 guides the actin cytoskeleton at growth cones together with ARHGEF7 and Tropomyosin 4. Biochim Biophys Acta. 2013 Dec;1832(12):2352-67. doi: 10.1016/j.bbadis.2013.09.009. Epub 2013 Sep 24.

Oliveras-Salvá M, Van der Perren A, Casadei N, Stroobants S, Nuber S, D'Hooge R, Van den Haute C, Baekelandt V. rAAV2/7 vector-mediated overexpression of alpha-synuclein in mouse substantia nigra induces protein aggregation and progressive dose-dependent neurodegeneration. Mol Neurodegener. 2013 Nov 25;8:44. doi: 10.1186/1750-1326-8-44.

Casadei N, Pöhler AM, Tomás-Zapico C, Torres-Peraza J, Schwedhelm I, Witz A, Zamolo I, De Heer R, Spruijt B, Noldus LP, Klucken J, Lucas JJ, Kahle PJ, Krüger R, Riess O, Nuber S. Overexpression of synphilin-1 promotes clearance of soluble and misfolded alpha-synuclein without restoring the motor phenotype in aged A30P transgenic mice. Hum Mol Genet. 2014 Feb 1;23(3):767-81. doi: 10.1093/hmg/ddt467. Epub 2013 Sep 24.

Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D; REGISTRY Investigators of the European Huntington’s Disease Network, Nguyen HP. The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients. PLoS One. 2013 Jul 22;8(7):e68951. doi: 10.1371/journal.pone.0068951. Print 2013.

Marxreiter F, Ettle B, May VE, Esmer H, Patrick C, Kragh CL, Klucken J, Winner B, Riess O, Winkler J, Masliah E, Nuber S. Glial A30P alpha-synuclein pathology segregates neurogenesis from anxiety-related behavior in conditional transgenic mice. Neurobiol Dis. 2013 Nov;59:38-51. doi: 10.1016/j.nbd.2013.07.004. Epub 2013 Jul 16.

Kelp A, Koeppen AH, Petrasch-Parwez E, Calaminus C, Bauer C, Portal E, Yu-Taeger L, Pichler B, Bauer P, Riess O, Nguyen HP. A novel transgenic rat model for spinocerebellar ataxia type 17 recapitulates neuropathological changes and supplies in vivo imaging biomarkers. J Neurosci. 2013 May 22;33(21):9068-81. doi: 10.1523/JNEUROSCI.5622-12.2013.

Portal E, Riess O, Nguyen HP. Automated home cage assessment shows behavioral changes in a transgenic mouse model of spinocerebellar ataxia type 17. Behav Brain Res. 2013 Aug 1;250:157-65. doi: 10.1016/j.bbr.2013.04.042. Epub 2013 May 7.

Nguyen HP, Hübener J, Weber JJ, Grueninger S, Riess O, Weiss A. Cerebellar soluble mutant ataxin-3 level decreases during disease progression in Spinocerebellar Ataxia Type 3 mice. PLoS One. 2013 Apr 23;8(4):e62043. doi: 10.1371/journal.pone.0062043. Print 2013.

Kehrer M, Singer S, Grasshoff U, Schäferhoff K, Bonin M, Riess O, Schöning M, Tzschach A. 12q24.33 deletion: report of a patient with intellectual disability and review of the literature. Am J Med Genet A. 2013 Jun;161A(6):1409-13. doi: 10.1002/ajmg.a.35877. Epub 2013 Apr 23. Review.

Schroeder C, Sturm M, Dufke A, Mau-Holzmann U, Eggermann T, Poths S, Riess O, Bonin M. UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays. Bioinformatics. 2013 Jun 15;29(12):1562-4. doi: 10.1093/bioinformatics/btt174. Epub 2013 Apr 14.

Gazou A, Riess A, Grasshoff U, Schäferhoff K, Bonin M, Jauch A, Riess O, Tzschach A. Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability. Am J Med Genet A. 2013 Apr;161A(4):860-4. doi: 10.1002/ajmg.a.35778. Epub 2013 Mar 12.

Moorjani P, Patterson N, Loh PR, Lipson M, Kisfali P, Melegh BI, Bonin M, Kádaši L, Rieß O, Berger B, Reich D, Melegh B. Reconstructing Roma history from genome-wide data. PLoS One. 2013;8(3):e58633. doi: 10.1371/journal.pone.0058633. Epub 2013 Mar 13.

Nuber S, Harmuth F, Kohl Z, Adame A, Trejo M, Schönig K, Zimmermann F, Bauer C, Casadei N, Giel C, Calaminus C, Pichler BJ, Jensen PH, Müller CP, Amato D, Kornhuber J, Teismann P, Yamakado H, Takahashi R, Winkler J, Masliah E, Riess O. A progressive dopaminergic phenotype associated with neurotoxic conversion of α-synuclein in BAC-transgenic rats. Brain. 2013 Feb;136(Pt 2):412-32. doi: 10.1093/brain/aws358.

Tsai YC, Riess O, Soehn AS, Nguyen HP. The Guanine nucleotide exchange factor kalirin-7 is a novel synphilin-1 interacting protein and modifies synphilin-1 aggregate transport and formation. PLoS One. 2012;7(12):e51999. doi: 10.1371/journal.pone.0051999. Epub 2012 Dec 20.

Yu-Taeger L, Petrasch-Parwez E, Osmand AP, Redensek A, Metzger S, Clemens LE, Park L, Howland D, Calaminus C, Gu X, Pichler B, Yang XW, Riess O, Nguyen HP. A novel BACHD transgenic rat exhibits characteristic neuropathological features of Huntington disease. J Neurosci. 2012 Oct 31;32(44):15426-38. doi: 10.1523/JNEUROSCI.1148-12.2012.

Hübener J, Weber JJ, Richter C, Honold L, Weiss A, Murad F, Breuer P, Wüllner U, Bellstedt P, Paquet-Durand F, Takano J, Saido TC, Riess O, Nguyen HP. Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3).Hum Mol Genet. 2013 Feb 1;22(3):508-18. doi: 10.1093/hmg/dds449. Epub 2012 Oct 24.

Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012 Nov 10;380(9854):1674-82. doi: 10.1016/S0140-6736(12)61480-9. Epub 2012 Sep 27.

Riess A, Grasshoff U, Schäferhoff K, Bonin M, Riess O, Horber V, Tzschach A. Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability. Am J Med Genet A. 2012 Oct;158A(10):2587-90. doi: 10.1002/ajmg.a.35562. Epub 2012 Sep 10.

Klucken J, Poehler AM, Ebrahimi-Fakhari D, Schneider J, Nuber S, Rockenstein E, Schlötzer-Schrehardt U, Hyman BT, McLean PJ, Masliah E, Winkler J. Alpha-synuclein aggregation involves a bafilomycin A1-sensitive autophagy pathway. Autophagy. 2012 May 1;8(5):754-66. doi: 10.4161/auto.19371. Epub 2012 May 1.

Keller MF, Saad M, Bras J, Bettella F, Nicolaou N, Simon-Sanchez J, Mittag F, Büchel F, Sharma M, Gibbs JR, Schulte C et al for the International Parkinson's Disease Genomics Consortium and The Wellcome Trust Case Controla Consortium. Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Hum Mol Genet. 2012 Nov 15;21(22):4996-5009. doi: 10.1093/hmg/dds335. Epub 2012 Aug 13.

May VEL, Nuber S, Marxreiter F, Riess O, Winner B, Winkler J. Impaired olfactory bulb neurogenesis depends on the presence of human wild-type alpha-synuclein. Neuroscience. 2012 Oct 11;222:343-55. doi: 10.1016/j.neuroscience.2012.07.001. Epub 2012 Jul 17.

Mittag F, Büchel F, Saad M, Jahn A, Schulte C, Bochdanovits Z, Simon-Sanchez J, Nalls MA, Keller M et al for the International Parkinson's Disease Genomics Consortium (IPDGC). Use of Support Vector Machines for Disease Risk Prediction in Genome-Wide Association Studies: Concerns and Opportunities. Hum Mutat. 2012 Dec;33(12):1708-18. doi: 10.1002/humu.22161. Epub 2012 Aug 3.

AG SCA Typ 3

Schmidt T, Schmidt J, Hübener J. Model Systems for Spinocerebellar Ataxias: Lessons Learned About the Pathogenesis. In: Spinocerebellar Ataxias, J. Gazulla (Ed.), In Tech, 2012; pp1-26.

Martins S, Soong B, Wong V, Giunti P, Stevanin G, Ranum L, Sasaki H, Riess O, Tsuji S, Coutinho P, Amorim A, Sequeiros J, Nicholson G. Mutational Origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala. Arch Neurol. 2012 Jun;69(6):746-51. doi: 10.1001/archneurol.2011.2504.

Hübener J, Casadei N, Teismann P, Seeliger MW, Björkqvist M, von Hörsten S, Riess O, Nguyen HP. Automated Behavioral Phenotyping Reveals Presymptomatic Alterations in a SCA3 Genetrap Mouse Model. J Genet Genomics. 2012 Jun 20;39(6):287-99. doi: 10.1016/j.jgg.2012.04.009. Epub 2012 May 15.

AG Transkriptomik

Evers C, Janssen JWG, Jauch A, Bonin M, Moog U. A Small Terminal Deletion 11q in a Boy Without Jacobsen Syndrome: Narrowing the Critical Region for the 11q Jacobsen Syndrome Phenotype. Am J Med Genet A. 2012 Mar;158A(3):680-4. doi: 10.1002/ajmg.a.34433. Epub 2012 Feb 2.

Characterization of neurite outgrowth and ectopic synaptogenesis in response to photoreceptor dysfunction. Michalakis S, Schäferhoff K, Spiwoks-Becker I, Zabouri N, Koch S, Koch F, Bonin M, Biel M, Haverkamp S. Cell Mol Life Sci. 2012 Dec 27.

Differential expression of miRNAs in rhabdomyosarcoma and malignant rhabdoid tumor. Armeanu-Ebinger S, Herrmann D, Bonin M, Leuschner I, Warmann SW, Fuchs J, Seitz G. Exp Cell Res. 2012 Dec 10;318(20):2567-77. doi: 10.1016/j.yexcr.2012.07.015.

Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability. Riess A, Grasshoff U, Schäferhoff K, Bonin M, Riess O, Horber V, Tzschach A. Am J Med Genet A. 2012 Oct;158A(10):2587-90. doi: 10.1002/ajmg.a.35562.

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Keller MF, Saad M, Bras J, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Büchel F, Sharma M, Gibbs JR, Schulte C, Moskvina V, Durr A, Holmans P, Kilarski LL, Guerreiro R, Hernandez DG, Brice A, Ylikotila P, Stefánsson H, Majamaa K, Morris HR, Williams N, Gasser T, Heutink P, Wood NW, Hardy J, Martinez M, Singleton AB, Nalls MA; International Parkinson's Disease Genomics Consortium (IPDGC); Wellcome Trust Case Control Consortium 2 (WTCCC2). Hum Mol Genet. 2012 Nov 15;21(22):4996-5009. doi: 10.1093/hmg/dds335.

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature. Begemann M, Spengler S, Gogiel M, Grasshoff U, Bonin M, Betz RC, Dufke A, Spier I, Eggermann T. J Med Genet. 2012 Sep;49(9):547-53. doi: 10.1136/jmedgenet-2012-100967.

Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities. Mittag F, Büchel F, Saad M, Jahn A, Schulte C, Bochdanovits Z, Simón-Sánchez J, Nalls MA, Keller M, Hernandez DG, Gibbs JR, Lesage S, Brice A, Heutink P, Martinez M, Wood NW, Hardy J, Singleton AB, Zell A, Gasser T, Sharma M; International Parkinsons Disease Genomics Consortium. Hum Mutat. 2012 Dec;33(12):1708-18. doi: 10.1002/humu.22161.

Characterisation of the cell line HC-AFW1 derived from a pediatric hepatocellular carcinoma. Armeanu-Ebinger S, Wenz J, Seitz G, Leuschner I, Handgretinger R, Mau-Holzmann UA, Bonin M, Sipos B, Fuchs J, Warmann SW. PLoS One. 2012;7(5):e38223. doi: 10.1371/journal.pone.0038223.

Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate. Tzschach A, Grasshoff U, Schäferhoff K, Bonin M, Dufke A, Wolff M, Haas-Lude K, Bevot A, Riess O. Am J Med Genet A. 2012 Jul;158A(7):1709-12. doi: 10.1002/ajmg.a.35398.

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes. Dufke C, Schlipf N, Schüle R, Bonin M, Auer-Grumbach M, Stevanin G, Depienne C, Kassubek J, Klebe S, Klimpe S, Klopstock T, Otto S, Poths S, Seibel A, Stolze H, Gal A, Schöls L, Bauer P. Neurogenetics. 2012 Aug;13(3):215-27. doi: 10.1007/s10048-012-0329-6.

A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype. Evers C, Janssen JW, Jauch A, Bonin M, Moog U. Am J Med Genet A. 2012 Mar;158A(3):680-4. doi: 10.1002/ajmg.a.34433.

A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL. Haemmerling S, Behnisch W, Doerks T, Korbel JO, Bork P, Moog U, Hentze S, Grasshoff U, Bonin M, Rieß O, Janssen JW, Jauch A, Bartram CR, Reinhardt D, Koch KA, Bandapalli OR, Kulozik AE. Br J Haematol. 2012 Apr;157(2):180-7. doi: 10.1111/j.1365-2141.2012.09028.x.

Impact of endotoxin exposure after exhausting exercise on the immune system in solid organ transplant recipients. Königsrainer I, Löffler M, Bühler S, Walter M, Schafbuch L, Beckert S, Glatzle J, Horvath P, Northoff H, Nadalin S, Königsrainer A, Zieker D. Exerc Immunol Rev. 2012;18:177-83.

2011

AG Genomik

Schlipf N, Schüle R, Klimpe S, Karle K, Synofzik M, Schicks J, Riess O, Schöls L, Bauer P. Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. Clin Genet. 2011; 80:148-60. IF 3,304

Synofzik M, Beetz C, Bauer C, Bonin M, Sanchez-Ferrero E, Schmitz-Hübsch T, Wüllner U, Nägele T, Riess O, Schöls L, Bauer P. Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features. J Med Genet. 2011; 48: 407-12. IF 5,751

Schicks J, Synofzik M, Pétursson H, Huttenlocher J, Reimold M, Schöls L, Bauer P. Atypical juvenile parkinsonism in a consanguineous SPG15 family. Mov Disord. 2011; 26: 564-6. IF 4,014

Brüggemann et al., Autosomal dominant Parkinson´s disease in a large German pedigree. Acta Neurol Scand 2011

Bos KI, Schuenemann VJ, Golding GB, Burbano HA, Waglechner N, Coombes BK, McPhee JB, Dewitte SN, Meyer M, Schmedes S, Wood J, Earn DJ, Herring DA, Bauer P, Poinar HN, Krause J. A draft genome of Yersinia pestis from victims of the Black Death. Nature. 2011; 478: 506-510. IF 36.104

Jacobi H, Bauer P, Giunti P, Labrum R, Sweeney MG, Charles P, Dürr A, Marelli C, Globas C, Linnemann C, Schöls L, Rakowicz M, Rola R, Zdzienicka E, Schmitz-Hübsch T, Fancellu R, Mariotti C, Tomasello C, Baliko L, Melegh B, Filla A, Rinaldi C, van de Warrenburg BP, Verstappen CC, Szymanski S, Berciano J, Infante J, Timmann D, Boesch S, Hering S, Depondt C, Pandolfo M, Kang JS, Ratzka S, Schulz J, Tezenas du Montcel S, Klockgether T. The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: A 2-year follow-up study. Neurology. 2011; 77: 1035-41. IF 8,017

Jacobi H, Hauser TK, Giunti P, Globas C, Bauer P, Schmitz-Hübsch T, Baliko L, Filla A, Mariotti C, Rakowicz M, Charles P, Ribai P, Szymanski S, Infante J, van de Warrenburg BP, Dürr A, Timmann D, Boesch S, Fancellu R, Rola R, Depondt C, Schöls L, Zdzienicka E, Kang JS, Ratzka S, Kremer B, Stephenson DA, Melegh B, Pandolfo M, du Montcel ST, Borkert J, Schulz JB, Klockgether T. Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings. Cerebellum. 2011 Jun 24. [Epub ahead of print] IF3,288

Feldhahn M, Menzel M, Weide B, Bauer P, Meckbach D, Garbe C, Kohlbacher O, Bauer J. No evidence of viral genomes in whole-transcriptome sequencing of three melanoma metastases. Exp Dermatol. 2011; 20:766-8. IF 3,239

Grasshoff U, Bonin M, Goehring I, Ekici A, Dufke A, Cremer K, Wagner N, Rossier E, Jauch A, Walter M, Bauer C, Bauer P, Horber K, Beck-Woedl S, Wieczorek D. De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation. Eur J Hum Genet. 2011; 19: 507-12. IF 4,380

Hartmann CJ, Leube B, Wojtecki L, Betz B, Groiss SJ, Bauer P, Schnitzler A, Südmeyer M. A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome. J Neurol. 2011; 258: 1186-8.IF 2,903

Brancher JA, Pecharki GD, Doetzer AD, Medeiros KG, Cordeiro Júnior CA, Sotomaior VS, Bauer P, Trevilatto PC. Analysis of polymorphisms in the lactotransferrin gene promoter and dental caries. Int J Dent. 2011;2011:571726. Epub 2011 Dec 8.

AG Epigenetik

Schulze JM, Hentrich T, Nakanishi S, Gupta A, Emberly E, Shilatifard A, Kobor MS (2011). Splitting the task: Ubp8 and Ubp10 deubiquinate different cellular pools of H2BK123. Genes and Development, Nov 1;25(21):2242-7

Takahashi YH, Schulze JM, Jackson J, Seidel C, Hentrich T, Jaspersen SL, Kobor MS, and Shilatifard A (2011). Dot1 and Histone H3K79 Methylation in Natural Heterochromatic and HML/HMR Silencing. Molecular Cell, Apr 8;42(1):118-26

AG Huntington

Springer F, Ehehalt S, Sommer J, Ballweg V, Machann J, Binder G, Claussen CD, Schick F; DISKUS-Study Group. Assessment of relevant hepatic steatosis in obese adolescents by rapid fat-selective GRE imaging with spatial-spectral excitation: a quantitative comparison with spectroscopic findings. Eur Radiol. 2011 Apr;21(4):816-22.

Nuber S, Petrasch-Parwez E, Arias-Carrión O, Koch L, Kohl Z, Schneider J, Calaminus C, Dermietzel R, Samarina A, Boy J, Nguyen HP, Teismann P, Velavan TP, Kahle PJ, von Hörsten S, Fendt M, Krüger R, Riess O. Olfactory neuron-specific expression of A30P alpha-synuclein exacerbates dopamine deficiency and hyperactivity in a novel conditional model of early Parkinson's disease stages. Neurobiol Dis. 2011 Nov;44(2):192-204.

Ehehalt S, Binder G, Schurr N, Pfaff C, Ranke MB, Schweizer R; DISKUS-Study Group. The functional muscle-bone unit in obese children - altered bone structure leads to normal strength strain index. Exp Clin Endocrinol Diabetes. 2011 Jun;119(6):321-6. Epub 2011 May 6.

Verwaest KA, Vu TN, Laukens K, Clemens LE, Nguyen HP, Van Gasse B, Martins JC, Van Der Linden A, Dommisse R. (1)H NMR based metabolomics of CSF and blood serum: A metabolic profile for a transgenic rat model of Huntington disease. Biochim Biophys Acta. 2011 Aug 16;1812(11):1371-1379.

Orrú M, Zanoveli J, Quiroz C, Nguyen HP, Guitart X, Ferré S. Functional changes in postsynaptic adenosine A(2A) receptors during early stages of a rat model of Huntington disease. Exp Neurol. 2011. Nov;232(1):76-80.

Blockx I, Van Camp N, Verhoye M, Boisgard R, Dubois A, Jego B, Jonckers E, Raber K, Siquier K, Kuhnast B, Dollé F, Nguyen HP, Von Hörsten S, Tavitian B, Van der Linden A Genotype specific age related changes in a transgenic rat model of Huntington's disease. Neuroimage. 2011 Oct 15;58(4):1006-16.

Höhn S, Dallérac G, Faure GA, Urbach Y, Nguyen HP, Riess O, von Hörsten S, Le Blanc P, Desvignes N, El Massioui N, Brown BL & Doyère V. Behavioral and in vivo electrophysiological evidence for presymptomatic alteration of prefronto-striatal processing in the transgenic rat model for Huntington disease. J Neurosci. 2011 Jun 15;31(24):8986-97.

Casteels C, Vandeputte C, Rangarajan JR, Dresselaers T, Riess O, Bormans G, Maes F, Himmelreich U, Nguyen H, Van Laere K. Metabolic and Type 1 cannabinoid receptor imaging of a transgenic rat model in the early phase of Huntington disease. Exp Neurol. Jun;229(2):440-9.

Hübener J, Vauti F, Funke C, Wolburg H, Ye Y, Schmidt T, Wolburg-Buchholz K, Schmitt I, Gardyan A, Drießen S, Arnold HH, Nguyen HP, Riess O. N-terminal ataxin-3 causes neurological symptoms with inclusions, ER-stress and ribosomal dislocation. Brain. 2011 Jul;134(Pt 7):1925-42.

Che HV, Metzger S, Portal E, Deyle C, Riess O, Nguyen HP. Localization of sequence variations in PGC-1 influence their modifying effect in Huntington disease. Mol Neurodegener. 2011 Jan 6;6(1):1.

Ehehalt S, Schweizer R, Blumenstock G, Pfaff C, Schurr N, Weber K, Ranke MB, Binder G; DISKUS-Study Group. Investigation of myostatin serum levels before and after a 6-month lifestyle intervention program in obese children. Exp Clin Endocrinol Diabetes. 2011 Apr;119(4):238-42.

AG Mental Retardation

Strobl-Wildemann G, Kalscheuer VM, Hu H, Wrogemann K, Ropers HH, Tzschach A. Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability. Am J Med Genet A. 2011 Dec;155(12):3067-70. doi: 10.1002/ajmg.a.34291. Epub 2011 Oct 14.

Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.

Braunholz D, Hullings M, Gil-Rodríguez MC, Fincher CT, Mallozzi MB, Loy E, Albrecht M, Kaur M, Limon J, Rampuria A, Clark D, Kline A, Dalski A, Eckhold J, Tzschach A, Hennekam R, Gillessen-Kaesbach G, Wierzba J, Krantz ID, Deardorff MA, Kaiser FJ. Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. Eur J Hum Genet. 2011 Sep 21. doi: 10.1038/ejhg.2011.175. [Epub ahead of print]

Tzschach A, Ullmann R, Ahmed A, Martin T, Weber G, Decker-Schwering O, Pauly F, Shamdeen MG, Reith W, Oehl-Jaschkowitz B. Christianson syndrome in a patient with an interstitial Xq26.3 deletion. Am J Med Genet A. 2011 Nov;155A(11):2771-4. doi: 10.1002/ajmg.a.34230. Epub 2011 Sep 19.

Hu H, Eggers K, Chen W, Garshasbi M, Motazacker MM, Wrogemann K, Kahrizi K, Tzschach A, Hosseini M, Bahman I, Hucho T, Mühlenhoff M, Gerardy-Schahn R, Najmabadi H, Ropers HH, Kuss AW. ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet. 2011 Sep 9;89(3):407-14. doi: 10.1016/j.ajhg.2011.08.008.

Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H. Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2011 Jul 15;89(1):176-82. Erratum in: Am J Hum Genet. 2011 Aug 12;89(2):348.

Garshasbi M, Kahrizi K, Hosseini M, Nouri Vahid L, Falah M, Hemmati S, Hu H, Tzschach A, Ropers HH, Najmabadi H, Kuss AW. A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. Am J Med Genet A. 2011 Aug;155A(8):1976-80. doi: 10.1002/ajmg.a.34077. Epub 2011 Jul 7.

Pak C, Garshasbi M, Kahrizi K, Gross C, Apponi LH, Noto JJ, Kelly SM, Leung SW, Tzschach A, Behjati F, Abedini SS, Mohseni M, Jensen LR, Hu H, Huang B, Stahley SN, Liu G, Williams KR, Burdick S, Feng Y, Sanyal S, Bassell GJ, Ropers HH, Najmabadi H, Corbett AH, Moberg KH, Kuss AW. Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. Proc Natl Acad Sci U S A. 2011 Jul 26;108(30):12390-5. Epub 2011 Jul 6.

Rademacher N, Hambrock M, Fischer U, Moser B, Ceulemans B, Lieb W, Boor R, Stefanova I, Gillessen-Kaesbach G, Runge C, Korenke GC, Spranger S, Laccone F, Tzschach A, Kalscheuer VM. Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics. 2011 Feb 12. [Epub ahead of print] No abstract available.

Jensen LR, Chen W, Moser B, Lipkowitz B, Schroeder C, Musante L, Tzschach A, Kalscheuer VM, Meloni I, Raynaud M, van Esch H, Chelly J, de Brouwer AP, Hackett A, van der Haar S, Henn W, Gecz J, Riess O, Bonin M, Reinhardt R, Ropers HH, Kuss AW. Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. Eur J Hum Genet. 2011 Jan 26. [Epub ahead of print]

Pagan C, Botros HG, Poirier K, Dumaine A, Jamain S, Moreno S, de Brouwer A, Van Esch H, Delorme R, Launay JM, Tzschach A, Kalscheuer V, Lacombe D, Briault S, Laumonnier F, Raynaud M, van Bon BW, Willemsen MH, Leboyer M, Chelly J, Bourgeron T. Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability. BMC Med Genet. 2011 Jan 20;12:17.

AG Parkinson

Nuber et al. 2011: Olfactory neuron-specific expression of A30P alpha-synuclein exacerbates dopamine deficiency and hyperactivity in a novel conditional model of early Parkinson's disease stages. Neurobiol Dis Epublish

AG SCA Typ 3

Beschorner R, Psaras T, Meyermann R, Bremer J, Schmidt T, Mittelbronn M, Schittenhelm J (2011) Erythropoietin receptor expression in normal and neoplastic choroid plexus. Clin Neuropathol 30(1):33-40.

Hübener J, Vauti F, Funke C, Wolburg H, Ye Y, Schmidt T, Wolburg-Buchholz K, Schmitt I, Gardyan A, Driessen S, Arnold HH, Nguyen HP, Riess O (2011) N-terminal ataxin-3 causes neurological symptoms with inclusions, endoplasmic reticulum stress and ribosomal dislocation. Brain. 2011 Jul;134(Pt 7):1925-42.

Nuber S, Petrasch-Parwez E, Arias-Carrión O, Koch L, Kohl Z, Schneider J, Calaminus C, Dermietzel R, Samarina A, Boy J, Nguyen HP, Teismann P, Velavan TP, Kahle PJ, von Hörsten S, Fendt M, Krüger R, Riess O (2011) Olfactory neuron-specific expression of A30P alpha-synuclein exacerbates dopamine deficiency and hyperactivity in a novel conditional model of early Parkinson's disease stages. Neurobiol Dis 44(2):192-204.

Odeh F, Leergaard TB, Boy J, Schmidt T, Riess O, Bjaalie JG (2011) Atlas of transgenic Tet-Off Ca2+/calmodulin-dependent protein kinase II and prion protein promoter activity in the mouse brain. Neuroimage 54(4):2603-11.

Schmidt T, Schmidt J, Hübener J (2011) Model systems for spinocerebellar ataxias: Lessons learned about the pathogenesis. In: Spinocerebellar Ataxias, J. Gazulla (Ed.), in press

Synofzik M, Schicks J, Lindig T, Biskup S, Schmidt T, Hansel J, Lehmann-Horn F, Schöls L (2011) Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. J Med Genet.48(10):713-5.

AG Transkriptomik

Bastepe M, Altug-Teber O, Agarwal C, Oberfield SE, Bonin M, Jüppner H. Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib). Bone. 2011 Mar 1;48(3):659-62. Epub 2010 Oct 19. PubMed PMID: 20965295; PubMed Central PMCID: PMC3039090.

Jensen LR, Chen W, Moser B, Lipkowitz B, Schroeder C, Musante L, Tzschach A, Kalscheuer VM, Meloni I, Raynaud M, van Esch H, Chelly J, de Brouwer AP, Hackett A, van der Haar S, Henn W, Gecz J, Riess O, Bonin M, Reinhardt R, Ropers HH, Kuss AW. Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. Eur J Hum Genet. 2011 Jun;19(6):717-20. Epub 2011 Jan 26. PubMed PMID: 21267006; PubMed Central PMCID: PMC3110040.

Armeanu-Ebinger S, Bonin M, Häbig K, Poremba C, Koscielniak E, Godzinski J, Warmann SW, Fuchs J, Seitz G. Differential expression of invasion promoting genes in childhood rhabdomyosarcoma. Int J Oncol. 2011 Apr;38(4):993-1000. doi: 10.3892/ijo.2011.921. Epub 2011 Jan 24. PubMed PMID: 21271214.

International Parkinson Disease Genomics Consortium, Nalls MA, Plagnol V, Hernandez DG, Sharma M, Sheerin UM, Saad M, Simón-Sánchez J, Schulte C, Lesage S, Sveinbjörnsdóttir S, Stefánsson K, Martinez M, Hardy J, Heutink P, Brice A, Gasser T, Singleton AB, Wood NW. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet. 2011 Feb 19;377(9766):641-9. Epub 2011 Feb 1. PubMed PMID: 21292315.

Grasshoff U, Bonin M, Goehring I, Ekici A, Dufke A, Cremer K, Wagner N, Rossier E, Jauch A, Walter M, Bauer C, Bauer P, Horber K, Beck-Woedl S, Wieczorek D. De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation. Eur J Hum Genet. 2011 May;19(5):507-12. Epub 2011 Feb 16. PubMed PMID: 21326285; PubMed Central PMCID: PMC3083613.

Synofzik M, Beetz C, Bauer C, Bonin M, Sanchez-Ferrero E, Schmitz-Hübsch T, Wüllner U, Nägele T, Riess O, Schöls L, Bauer P. Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features. J Med Genet. 2011 Jun;48(6):407-12. Epub 2011 Mar 1. PubMed PMID: 21367767.

Battke F, Herbig A, Wentzel A, Jakobsen OM, Bonin M, Hodgson DA, Wohlleben W, Ellingsen TE; STREAM Consortium, Nieselt K. A technical platform for generating reproducible expression data from Streptomyces coelicolor batch cultivations. Adv Exp Med Biol. 2011;696:3-15. PubMed PMID: 21431541.

Rall K, Barresi G, Walter M, Poths S, Haebig K, Schaeferhoff K, Schoenfisch B, Riess O, Wallwiener D, Bonin M, Brucker S. A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients. Orphanet J Rare Dis. 2011 May 28;6:32. PubMed PMID: 21619687; PubMed Central PMCID: PMC3123171.

International Parkinson's Disease Genomics Consortium (IPDGC); Wellcome Trust Case Control Consortium 2 (WTCCC2). A two-stage meta-analysis identifies several new loci for Parkinson's disease. PLoS Genet. 2011 Jun;7(6):e1002142. Epub 2011 Jun 30. PubMed PMID: 21738488; PubMed Central PMCID: PMC3128098.

Schröder A, Wollnik J, Wrzodek C, Dräger A, Bonin M, Burk O, Thomas M, Thasler WE, Zanger UM, Zell A. Inferring statin-induced gene regulatory relationships in primary human hepatocytes. Bioinformatics. 2011 Sep 15;27(18):2473-7. Epub 2011 Jul 14. PubMed PMID: 21757465.

Willmann G, Schäferhoff K, Fischer MD, Arango-Gonzalez B, Bolz S, Naycheva L, Röck T, Bonin M, Bartz-Schmidt KU, Zrenner E, Schatz A, Gekeler F. Gene expression profiling of the retina after transcorneal electrical stimulation in wild-type Brown Norway rats. Invest Ophthalmol Vis Sci. 2011 Sep 29;52(10):7529-37. Print 2011 Sep. PubMed PMID: 21873684.

Wissinger B, Schaich S, Baumann B, Bonin M, Jägle H, Friedburg C, Varsányi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, De Baere E, Andrassi-Darida M, Sauer A, Wolf C, Zobor D, Bernd A, Leroy BP, Enyedi P, Cremers FP, Lorenz B, Zrenner E, Kohl S. Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. Hum Mutat. 2011 Dec;32(12):1398-406. doi: 10.1002/humu.21580. Epub 2011 Sep 12. PubMed PMID: 21882291.

Friedburg C, Wissinger B, Schambeck M, Bonin M, Kohl S, Lorenz B. Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2. Invest Ophthalmol Vis Sci. 2011 Nov 7;52(12):8621-9. Print 2011 Nov. PubMed PMID: 21911584.

Grangeiro de Carvalho E, Bonin M, Kremsner PG, Kun JF. Plasmodium falciparum-infected erythrocytes and IL-12/IL-18 induce diverse transcriptomes in human NK cells: IFN-/ pathway versus TREM signaling. PLoS One. 2011;6(9):e24963. Epub 2011 Sep 16. PubMed PMID: 21949811; PubMed Central PMCID: PMC3174986.

Schröder A, Klein K, Winter S, Schwab M, Bonin M, Zell A, Zanger UM. Genomics of ADME gene expression: mapping expression quantitative trait loci relevant for absorption, distribution, metabolism and excretion of drugs in human liver. Pharmacogenomics J. 2011 Oct 18. doi: 10.1038/tpj.2011.44. [Epub ahead of print] PubMed PMID: 22006096.

2010

AG Dystonie

Söhn A., Glöckle N., Duarte Dötzer A., Deuschl G., Felbor U. Topka H.R., Schöls L., Riess O., Müller U., Bauer P, Grundmann K. Prevalence of THAP1 mutations in a large cohort of German patients with primary dystonia Mov Disord. 2010 Sep 15;25(12):1982-6.

Walter,M., Bonin,M., Pullman,R.S., Valente,E.M., Loi,M., Gambarin,M., Raymond,D., Tinazzi,M., Kamm,C., Glockle,N., Poths S, Gasser T, Bressman SB, Klein C, Ozelius LJ, Riess O, Grundmann K. (2010) Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia. Neurobiol Dis. 2010 May;38(2):192-200.

AG Genomik

Bauer P, Stevanin G, Beetz C, Synofzik M, Schmitz-Hübsch T, Wüllner U, Berthier E, Ollagnon-Roman E, Riess O, Forlani S, Mundwiller E, Durr A, Schöls L, Brice A. Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. J Neurol Neurosurg Psychiatry. 2010; 81: 1229-1232. IF 4,869

Söhn AS, Glöckle N, Doetzer AD, Deuschl G, Felbor U, Topka HR, Schöls L, Riess O, Bauer P, Müller U, Grundmann K. Prevalence of THAP1 sequence variants in German patients with primary dystonia. Mov Disord. 2010; 25:1982-6. IF 4,014

Burbulla LF, Schelling C, Kato H, Rapaport D, Woitalla D, Schiesling C, Schulte C, Sharma M, Illig T, Bauer P, Jung S, Nordheim A, Schöls L, Riess O, Krüger R. Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis. Hum Mol Genet. 2010; 19: 4437-4452. IF 7,386

Schlipf NA, Beetz C, Schüle R, Stevanin G, Erichsen AK, Forlani S, Zaros C, Karle K, Klebe S, Klimpe S, Durr A, Otto S, Tallaksen CM, Riess O, Brice A, Bauer P, Schöls L. A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). Eur J Hum Genet. 2010; 18: 1065-1067. IF 3,564

Edener U, Wöllner J, Hehr U, Kohl Z, Schilling S, Kreuz F, Bauer P, Bernard V, Gillessen-Kaesbach G, Zühlke C. Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. Eur J Hum Genet. 2010;18:965-8. IF 3,564

Schulz JB, Borkert J, Wolf S, Schmitz-Hübsch T, Rakowicz M, Mariotti C, Schoels L, Timmann D, van de Warrenburg B, Dürr A, Pandolfo M, Kang JS, Mandly AG, Nägele T, Grisoli M, Boguslawska R, Bauer P, Klockgether T, Hauser TK. Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6. Neuroimage. 2010; 49: 158-168. IF 5,694

Camara E, Krämer UM, Cunillera T, Marco-Pallarés J, Cucurell D, Nager W, Mestres-Missé A, Bauer P, Schüle R, Schöls L, Tempelmann C, Rodriguez-Fornells A, Münte TF. The Effects of COMT (Val108/158Met) and DRD4 (SNP -521) Dopamine Genotypes on Brain Activations Related to Valence and Magnitude of Rewards. Cereb Cortex. 2010; 20: 1985-1996. IF 5,907

AG Epigenetik

Schulze JM, Kane CM, and Ruiz-Manzano A. The YEATS Domain of Taf14 in Saccharomyces cerevisiae has a Negative Impact on Cell Growth. Molecular Genetics and Genomics, 2010 Apr;283(4):365-80

AG Huntington

Nguyen HP, Bjorkqvist M, Bode FJ, Stephan M, von Hörsten S. Serum levels of a subset of cytokines show high interindividual variability and are not altered in rats transgenic for Huntington's disease. PLoS Curr. 2010 Oct 21;2:RRN1190.

Springer F, Nguyen HP, Machann J, Schweizer R, Ranke MB, Binder G, Schick F, Ehehalt S; DISKUS Study Group. Normal-weight 14-year-old girl with acanthosis nigricans and markedly increased hepatic steatosis: evidence for the important role of ectopic fat deposition in the pathogenesis of insulin resistance in childhood and adolescence. Horm Res Paediatr. 2010;74(5):376-80.

Zabel C, Nguyen HP, Hin SC, Hartl D, Mao L, Klose J. Proteasome and oxidative phoshorylation changes may explain why aging is a risk factor for neurodegenerative disorders. J Proteomics. 2010 Oct 10;73(11):2230-8.

Valenza M, Leoni V, Karasinska JM, Petricca L, Fan J, Carroll J, Pouladi MA, Fossale E, Nguyen HP, Riess O, MacDonald M, Wellington C, DiDonato S, Hayden M, Cattaneo E. Cholesterol defect is marked across multiple rodent models of Huntington's disease and is manifest in astrocytes. J Neurosci. 2010 Aug 11;30(32):10844-50.

Metzger S, Saukko M, Van Che H, Tong L, Puder Y, Riess O, Nguyen HP. Age at onset in Huntington's disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7. Hum Genet. 2010 Oct;128(4):453-9.

Kandasamy M, Couillard-Despres S, Raber KA, Stephan M, Lehner B, Winner B, Kohl Z, Rivera FJ, Nguyen HP, Riess O, Bogdahn U, Winkler J, von Hörsten S, Aigner L. Stem cell quiescence in the hippocampal neurogenic niche is associated with elevated transforming growth factor-beta signaling in an animal model of Huntington disease. J Neuropathol Exp Neurol. 2010 Jul;69(7):717-28.

Gellerich FN, Gizatullina Z, Trumbeckaite S, Nguyen HP, Pallas T, Arandarcikaite O, Vielhaber S, Seppet E, Striggow F. The regulation of OXPHOS by extramitochondrial calcium. Biochim Biophys Acta. 2010 Jun-Jul;1797(6-7):1018-27.

Urbach YK, Bode FJ, Nguyen HP, Riess O, von Hörsten S. Neurobehavioral tests in rat models of degenerative brain diseases. Methods Mol Biol. 2010;597:333-56.

AG Mental Retardation

Kuss AW, Garshasbi M, Kahrizi K, Tzschach A, Behjati F, Darvish H, Abbasi-Moheb L, Puettmann L, Zecha A, Weissmann R, Hu H, Mohseni M, Abedini SS, Rajab A, Hertzberg C, Wieczorek D, Ullmann R, Ghasemi-Firouzabadi S, Banihashemi S, Arzhangi S, Hadavi V, Bahrami-Monajemi G, Kasiri M, Falah M, Nikuei P, Dehghan A, Sobhani M, Jamali P, Ropers HH, Najmabadi H. Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genet. 2011 Feb;129(2):141-8. Epub 2010 Nov 10.

Darvish H, Esmaeeli-Nieh S, Monajemi GB, Mohseni M, Ghasemi-Firouzabadi S, Abedini SS, Bahman I, Jamali P, Azimi S, Mojahedi F, Dehghan A, Shafeghati Y, Jankhah A, Falah M, Soltani Banavandi MJ, Ghani-Kakhi M, Garshasbi M, Rakhshani F, Naghavi A, Tzschach A, Neitzel H, Ropers HH, Kuss AW, Behjati F, Kahrizi K, Najmabadi H. A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. J Med Genet. 2010 Dec;47(12):823-8. Epub 2010 Oct 26.

Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici AB, Tzschach A, Garshasbi M, Franke K, Klopp N, Wichmann HE, Meitinger T, Strom TM, Hempel M. Cohen syndrome diagnosis using whole genome arrays. J Med Genet. 2011 Feb;48(2):136-40. Epub 2010 Oct 4.

Kariminejad A, Kariminejad R, Tzschach A, Najafi H, Ahmed A, Ullmann R, Ropers HH, Kariminejad MH. 11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features. Am J Med Genet A. 2010 Oct;152A(10):2651-5. No abstract available.

Kahrizi K, Hu CH, Garshasbi M, Abedini SS, Ghadami S, Kariminejad R, Ullmann R, Chen W, Ropers HH, Kuss AW, Najmabadi H, Tzschach A. Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. Eur J Hum Genet. 2011 Jan;19(1):115-7. Epub 2010 Aug 11.

Shafeghati Y, Kahrizi K, Najmabadi H, Kuss AW, Ropers HH, Tzschach A. Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature. Eur J Pediatr. 2010 Dec;169(12):1535-9. Epub 2010 Jul 27. Review.

Hu H, Wrogemann K, Kalscheuer V, Tzschach A, Richard H, Haas SA, Menzel C, Bienek M, Froyen G, Raynaud M, Van Bokhoven H, Chelly J, Ropers H, Chen W. Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. Hugo J. 2009 Dec;3(1-4):83. Epub 2010 Apr 11.

Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW. Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet. 2010 Jun 11;86(6):949-56. Epub 2010 May 20.

Budny B, Badura-Stronka M, Materna-Kiryluk A, Tzschach A, Raynaud M, Latos-Bielenska A, Ropers HH. Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. Clin Genet. 2010 Jun;77(6):541-51. Epub 2010 Apr 19.

Tzschach A, Menzel C, Erdogan F, Istifli ES, Rieger M, Ovens-Raeder A, Macke A, Ropers HH, Ullmann R, Kalscheuer V. Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement. Am J Med Genet A. 2010 Apr;152A(4):1008-12.

Jensen LR, Bartenschlager H, Rujirabanjerd S, Tzschach A, Nümann A, Janecke AR, Spörle R, Stricker S, Raynaud M, Nelson J, Hackett A, Fryns JP, Chelly J, de Brouwer AP, Hamel B, Gecz J, Ropers HH, Kuss AW. A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. Pathogenetics. 2010 Feb 2;3(1):2.

Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D, D'Adamo P. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet. 2010 Feb 12;86(2):185-95.

AG Parkinson

Nuber et al. 2010: Transgenic overexpression of the alpha-synuclein interacting protein synphilin-1 leads to behavioural and neuropathological alterations in mice. Neurogenetics 11:107-20

AG SCA Typ 3

Boy J, Schmidt T, Schumann U, Grasshoff U, Unser S, Holzmann C, Schmitt I, Karl T, Laccone F, Wolburg H, Ibrahim S, Riess O (2010) A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeats. Neurobiol Dis. 37(2):284-93.

Fiesel FC, Voigt A, Weber SS, Van den Haute C, Waldenmaier A, Görner K, Walter M, Anderson ML, Kern JV, Rasse TM, Schmidt T, Springer W, Kirchner R, Bonin M, Neumann M, Baekelandt V, Alunni-Fabbroni M, Schulz JB, Kahle PJ (2010) Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6. EMBO J. 29(1):209-21.

Hübener J, Riess O (2010) Polyglutamine-induced neurodegeneration in SCA3 is not mitigated by non-expanded ataxin-3: conclusions from double-transgenic mouse models. Neurobiol Dis. 38(1):116-24.

AG Transkriptomik

Beck SC, Schaeferhoff K, Michalakis S, Fischer MD, Huber G, Rieger N, Riess O, Wissinger B, Biel M, Bonin M, Seeliger MW, Tanimoto N. In vivo analysis of cone survival in mice. Invest Ophthalmol Vis Sci. 2010 Jan;51(1):493-7. Epub 2009 Sep 8. PubMed PMID: 19737879.

Fiesel FC, Voigt A, Weber SS, Van den Haute C, Waldenmaier A, Görner K, Walter M, Anderson ML, Kern JV, Rasse TM, Schmidt T, Springer W, Kirchner R, Bonin M, Neumann M, Baekelandt V, Alunni-Fabbroni M, Schulz JB, Kahle PJ. Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6. EMBO J. 2010 Jan 6;29(1):209-21. Epub 2009 Nov 12. PubMed PMID: 19910924; PubMed Central PMCID: PMC2808372.

Schroeder C, Stutzmann F, Weber BH, Riess O, Bonin M. High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays. Breast Cancer Res Treat. 2010 Jul;122(1):287-97. Epub 2009 Nov 26. PubMed PMID: 19941162.

Menzies FM, Huebener J, Renna M, Bonin M, Riess O, Rubinsztein DC. Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3. Brain. 2010 Jan;133(Pt 1):93-104. Epub 2009 Dec 9. PubMed PMID: 20007218; PubMed Central PMCID: PMC2801325.

Seitz G, Bonin M, Fuchs J, Poths S, Ruck P, Warmann SW, Armeanu-Ebinger S. Inhibition of glutathione-S-transferase as a treatment strategy for multidrug resistance in childhood rhabdomyosarcoma. Int J Oncol. 2010 Feb;36(2):491-500. PubMed PMID: 20043085.

Nieselt K, Battke F, Herbig A, Bruheim P, Wentzel A, Jakobsen ØM, Sletta H, Alam MT, Merlo ME, Moore J, Omara WA, Morrissey ER, Juarez-Hermosillo MA, Rodríguez-García A, Nentwich M, Thomas L, Iqbal M, Legaie R, Gaze WH, Challis GL, Jansen RC, Dijkhuizen L, Rand DA, Wild DL, Bonin M, Reuther J, Wohlleben W, Smith MC, Burroughs NJ, Martín JF, Hodgson DA, Takano E, Breitling R, Ellingsen TE, Wellington EM. The dynamic architecture of the metabolic switch in Streptomyces coelicolor. BMC Genomics. 2010 Jan 6;11:10. PubMed PMID: 20053288; PubMed Central PMCID: PMC2824715.

Walter M, Bonin M, Pullman RS, Valente EM, Loi M, Gambarin M, Raymond D, Tinazzi M, Kamm C, Glöckle N, Poths S, Gasser T, Bressman SB, Klein C, Ozelius LJ, Riess O, Grundmann K. Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia. Neurobiol Dis. 2010 May;38(2):192-200. Epub 2010 Jan 4. PubMed PMID: 20053375.

Kurz A, Wöhr M, Walter M, Bonin M, Auburger G, Gispert S, Schwarting RK. Alpha-synuclein deficiency affects brain Foxp1 expression and ultrasonic vocalization. Neuroscience. 2010 Mar 31;166(3):785-95. Epub 2010 Jan 6. PubMed PMID: 20056137.

Bartsch O, Gebauer K, Lechno S, van Esch H, Froyen G, Bonin M, Seidel J, Thamm-Mücke B, Horn D, Klopocki E, Hertzberg C, Zechner U, Haaf T. Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications. Am J Med Genet A. 2010 Feb;152A(2):305-12. PubMed PMID: 20082459.

Schulz MM, Buschner MG, Leidig R, Wehner HD, Fritz P, Häbig K, Bonin M, Schütz M, Shiozawa T, Wehner F. A new approach to the investigation of sexual offenses-cytoskeleton analysis reveals the origin of cells found on forensic swabs. J Forensic Sci. 2010 Mar 1;55(2):492-8. Epub 2010 Jan 19. PubMed PMID: 20102457.

Tchirikov M, Merinsky A, Strohner M, Bonin M, Beyer V, Haaf T, Bartsch O. Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 --> qter. Am J Med Genet A. 2010 Mar;152A(3):721-5. PubMed PMID: 20186810.

Fischer MD, Tanimoto N, Beck SC, Huber G, Schaeferhoff K, Michalakis S, Riess O, Wissinger B, Biel M, Bonin M, Seeliger MW. Structural and functional phenotyping in the cone-specific photoreceptor function loss 1 (cpfl1) mouse mutant - a model of cone dystrophies. Adv Exp Med Biol. 2010;664:593-9. PubMed PMID: 20238063.

Herrmann D, Seitz G, Warmann SW, Bonin M, Fuchs J, Armeanu-Ebinger S. Cetuximab promotes immunotoxicity against rhabdomyosarcoma in vitro. J Immunother. 2010 Apr;33(3):279-86. PubMed PMID: 20445348.

Borgmann K, Raabe A, Reuther S, Szymczak S, Schlomm T, Isbarn H, Gomolka M, Busjahn A, Bonin M, Ziegler A, Dikomey E. The potential role of G2- but not of G0-radiosensitivity for predisposition of prostate cancer. Radiother Oncol. 2010 Jul;96(1):19-24. Epub 2010 May 7. PubMed PMID: 20452694.

Schaeferhoff K, Michalakis S, Tanimoto N, Fischer MD, Becirovic E, Beck SC, Huber G, Rieger N, Riess O, Wissinger B, Biel M, Seeliger MW, Bonin M. Induction of STAT3-related genes in fast degenerating cone photoreceptors of cpfl1 mice. Cell Mol Life Sci. 2010 Sep;67(18):3173-86. Epub 2010 May 14. PubMed PMID: 20467778.

Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet. 2010 Jun;42(6):489-91. Epub 2010 May 16. PubMed PMID: 20473310.

Walter M, Honegger A, Schweizer R, Poths S, Bonin M. Utilization of AFFX spike-in control probes to monitor sample identity throughout Affymetrix GeneChip Array processing. Biotechniques. 2010 May;48(5):371-8. PubMed PMID: 20569210.

Kurz A, Double KL, Lastres-Becker I, Tozzi A, Tantucci M, Bockhart V, Bonin M, García-Arencibia M, Nuber S, Schlaudraff F, Liss B, Fernández-Ruiz J, Gerlach M, Wüllner U, Lüddens H, Calabresi P, Auburger G, Gispert S. A53T-alpha-synuclein overexpression impairs dopamine signaling and striatal synaptic plasticity in old mice. PLoS One. 2010 Jul 7;5(7):e11464. PubMed PMID: 20628651; PubMed Central PMCID: PMC2898885.

Kurz A, Rabbani N, Walter M, Bonin M, Thornalley P, Auburger G, Gispert S. Alpha-synuclein deficiency leads to increased glyoxalase I expression and glycation stress. Cell Mol Life Sci. 2011 Feb;68(4):721-33. Epub 2010 Aug 14. PubMed PMID: 20711648; PubMed Central PMCID: PMC3029823.

Horn D, Kapeller J, Rivera-Brugués N, Moog U, Lorenz-Depiereux B, Eck S, Hempel M, Wagenstaller J, Gawthrope A, Monaco AP, Bonin M, Riess O, Wohlleber E, Illig T, Bezzina CR, Franke A, Spranger S, Villavicencio-Lorini P, Seifert W, Rosenfeld J, Klopocki E, Rappold GA, Strom TM. Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Hum Mutat. 2010 Nov;31(11):E1851-60. PubMed PMID: 20848658; PubMed Central PMCID: PMC3049153.

Papageorgiou E, Wacker A, Nägele T, Bonin M, Dufke A. Multiple sclerosis in association with Williams-Beuren syndrome. J Paediatr Child Health. 2010 Oct;46(10):612-4. doi: 10.1111/j.1440-1754.2010.01863.x. PubMed PMID: 20958825.

Endris V, Hackmann K, Neuhann TM, Grasshoff U, Bonin M, Haug U, Hahn G, Schallner JC, Schröck E, Tinschert S, Rappold G, Moog U. Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia. Am J Med Genet A. 2010 Nov;152A(11):2908-11. PubMed PMID: 20979196.

Haebig K, Gloeckner CJ, Miralles MG, Gillardon F, Schulte C, Riess O, Ueffing M, Biskup S, Bonin M. ARHGEF7 (Beta-PIX) acts as guanine nucleotide exchange factor for leucine-rich repeat kinase 2. PLoS One. 2010 Oct 29;5(10):e13762. PubMed PMID: 21048939; PubMed Central PMCID: PMC2966438.

2009

AG Dystonie

Regensburger M, Kohl Z, Grundmann K., Beate Winner B, Riess O, Winkler J Adult neurogenesis and striatal plasticity unaffected by torsinA inclusions Neuroreport. 2009 Nov 25;20(17):1529-33.

AG Epigenetik

Wang AY, Schulze JM, Skordalakes E, Gin JW, Berger JM, Rine J, and Kobor MS. Asf1-like Structure of the Yaf9 YEATS Domain and Role in Deposition and Acetylation of H2A.Z. PNAS, 2009 Dec 22;106(51):21573-8

Schulze JM, Jackson J, Gardner JM, Hentrich T, Haug J, Johnston M, Jaspersen SL, Kobor MS, and Shilatifard A. Linking cell cycle to histone modifications: A role for the SBF complex in cell cycle regulation of H3K79 dimethylation. Molecular Cell. 2009 Sep; Vol 35(5):626-641

AG Genomik

Schüle R, Schlipf N, Synofzik M, Klebe S, Klimpe S, Hehr U, Winner B, Lindig T, Dotzer A, Riess O, Winkler J, Schöls L, Bauer P. SPG15 is a rare cause of autosomal-recessive spastic paraplegia. J Neurol Neurosurg Psychiatry 2009; 80: 1402-1404. IF 4,622

Bauer P, Winner B, Schüle R, Bauer C; Häfele V, Hehr U, Bonin M, Walter M, Karle K, Ringer TM, Rieß O, Winkler J, Schöls L. Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization. Neurogenetics 2009; 10: 43-48. IF 4,281

Nguyen HP, Riess A, Krüger M, Bauer P, Singer S, Schneider M, Enders H, Dufke A. Mosaic trisomy 21/monosomy 21 in a living female infant. Cytogenet Genome Res. 2009; 125: 26-32. IF 1,965

Marco-Pallarés J, Cucurell D, Cunillera T, Krämer UM, Càmara E, Nager W, Bauer P, Schüle R, Schöls L, Münte TF, Rodriguez-Fornells A. Genetic Variability in the Dopamine System (Dopamine Receptor D4, Catechol-O-Methyltransferase) Modulates Neurophysiological Responses to Gains and Losses. Biol Psychiatry. 2009; 66. 154-161. IF 8.456

Schüle R, Bonin M, Dürr A, Forlani S, Sperfeld AD, Klimpe S, Mueller JC, Seibel A, van de Warrenburg BP, Bauer P, Schöls L. Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24. Neurology. 2009; 72:1893-8. IF 6.014

Seidel K, De Vos R, Derksen L, Bauer P, Riess O, den Dunnen W, Deller T, Hageman G, Rüb U. Widespread thalamic and cerebellar degeneration in a patient with a complicated hereditary spastic paraplegia (HSP). Ann Anat. 2009; 191: 203-11. IF 0,817

Synofzik M, Bauer P, Schöls L. Prion mutation D178N with highly variable disease onset and phenotype. J Neurol Neurosurg Psychiatry. 2009; 80: 345-6. IF 3,857

AG Huntington

Alavi MV, Fuhrmann N, Nguyen HP, Yu-Wai-Man P, Heiduschka P, Chinnery PF, Wissinger B. Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy. Exp Neurol. 2009 Dec;220(2):404-9.

Nguyen HP, Riess A, Krüger M, Bauer P, Singer S, Schneider M, Enders H, Dufke A. Mosaic trisomy 21/monosomy 21 in a living female infant. Cytogenet Genome Res. 2009;125(1):26-32.

Bode FJ, Stephan M, Wiehager S, Nguyen HP, Bjorkqvist M, von Hörsten S, Bauer A, Petersen A. Increased numbers of motor activity peaks during light cycle are associated with reductions in adrenergic alpha(2)-receptor levels in a transgenic Huntington's disease rat model. Behav Brain Res. 2009 Dec 14;205(1):175-82.

Seppet E, Gruno M, Peetsalu A, Gizatullina Z, Nguyen HP, Vielhaber S, Wussling MH, Trumbeckaite S, Arandarcikaite O, Jerzembeck D, Sonnabend M, Jegorov K, Zierz S, Striggow F, Gellerich FN. Mitochondria and energetic depression in cell pathophysiology. Int J Mol Sci. 2009 May 19;10(5):2252-303.

AG Mentale Retardierung

Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, Ropers HH, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. Am J Hum Genet. 2009 Dec;85(6):909-15.

Chen W, Ullmann R, Langnick C, Menzel C, Wotschofsky Z, Hu H, Döring A, Hu Y, Kang H, Tzschach A, Hoeltzenbein M, Neitzel H, Markus S, Wiedersberg E, Kistner G, van Ravenswaaij-Arts CM, Kleefstra T, Kalscheuer VM, Ropers HH. Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. Eur J Hum Genet. 2010 May;18(5):539-43. Epub 2009 Dec 2.

Tzschach A, Bisgaard AM, Kirchhoff M, Graul-Neumann LM, Neitzel H, Page S, Ahmed A, Müller I, Erdogan F, Ropers HH, Kalscheuer VM, Ullmann R. Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. Eur J Hum Genet. 2010 Mar;18(3):291-5. Epub 2009 Oct 21.

Kariminejad A, Kariminejad R, Tzschach A, Ullmann R, Ahmed A, Asghari-Roodsari A, Salehpour S, Afroozan F, Ropers HH, Kariminejad MH. Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis. Am J Med Genet A. 2009 Jul;149A(7):1544-9.

Graul-Neumann LM, Stieler KM, Blume-Peytavi U, Tzschach A. Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome). Am J Med Genet A. 2009 Feb 15;149A(4):746-50.

Tzschach A, Graul-Neumann LM, Konrat K, Richter R, Ebert G, Ullmann R, Neitzel H. Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature. Am J Med Genet A. 2009 Feb;149A(2):242-5. Review.

Seifert W, Holder-Espinasse M, Kühnisch J, Kahrizi K, Tzschach A, Garshasbi M, Najmabadi H, Walter Kuss A, Kress W, Laureys G, Loeys B, Brilstra E, Mancini GM, Dollfus H, Dahan K, Apse K, Hennies HC, Horn D. Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Hum Mutat. 2009 Feb;30(2):E404-20.

Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP. Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet. 2009 Apr;17(4):444-53. Epub 2008 Nov 5. Erratum in: Eur J Hum Genet. 2009 May;17(5):697.

Andreas Tzschach: Genetik der nichtsyndromalen geistigen Behinderung, medgen 2009 21:231-236

AG Parkinson

Marxreiter F, Nuber S, Kandasamy M, Klucken J, Aigner R, Burgmayer R, Couillard-Despres S, Riess O, Winkler J, Winner B. Changes in adult olfactory bulb neurogenesis in mice expressing the A30P mutant form of alpha-synuclein. Eur J Neurosci. 2009 Mar;29(5):879-90

Funke C, Soehn AS, Tomiuk J, Riess O, Berg D. Genetic analysis of coding SNPs in blood-brain barrier transporter MDR1 in European Parkinson's disease patients. J Neural Transm. 2009 Apr;116(4):443-50

Funke C, Tomiuk J, Riess O, Berg D, Soehn AS Genetic analysis of heme oxygenase-1 (HO-1) in German Parkinson's disease patients. J Neural Transm. 2009 Jul;116(7):853-9

Soehn AS, Pham TT, Schaeferhoff K, Floss T, Vogt Weisenhorn DM, Wurst W, Bonin M, Riess O Periphilin is strongly expressed in the murine nervous system and is indispensable for murine development Genesis 2009 Aug;47(9); DOI: 10.1002/dvg.20553

Soehn AS, Franck T, Biskup S, Giaime E, Melle C, Rott R, Cebo D, Kalbacher H, Ott E, Pahnke J, Meitinger T, Krüger R, Gasser T, Berg D, von Eggeling F, Engelender S, Alves da Costa C, Riess O. Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease. Neurogenetics [in press]; DOI: 10.1007/s10048-009-0215-z

Nuber S, Franck T, Wolburg H, Schumann U, Casadei N, Fischer K, Calaminus C, Pichler BJ, Chanarat S, Teismann P, Schulz JB, Luft AR, Tomiuk J, Wilbertz J, Bornemann A, Krüger R, Riess O. Transgenic overexpression of the alpha-synuclein interacting protein synphilin-1 leads to behavioral and neuropathological alterations in mice. Neurogenetics [in press]; DOI: 10.1007/s10048-009-0212-2

AG SCA Typ 3

Antony PM, Mäntele S, Mollenkopf P, Boy J, Kehlenbach RH, Riess O, Schmidt T (2009) Identification and functional dissection of localization signals within ataxin-3. Neurobiol Dis. 36(2):280-92.

Boy J, Schmidt T, Wolburg H, Mack A, Nuber S, Böttcher M, Schmitt I, Holzmann C, Zimmermann F, Servadio A, Riess O (2009) Reversibility of symptoms in a conditional mouse model of spinocerebellar ataxia type 3. Hum Mol Genet. 18(22):4282-95.

Menzies FM, Huebener J, Renna M, Bonin M, Riess O, Rubinsztein DC (2009) Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3. Brain 133(Pt 1):93-104.

AG Transkriptomik

Loeffler J, Haddad Z, Bonin M, Romeike N, Mezger M, Schumacher U, Kapp M, Gebhardt F, Grigoleit GU, Stevanovic S, Einsele H, Hebart H. Interaction analyses of human monocytes co-cultured with different forms of Aspergillus fumigatus. J Med Microbiol. 2009 Jan;58(Pt 1):49-58. PubMed PMID: 19074652.

Häbig K, Walter M, Stappert H, Riess O, Bonin M. Microarray expression analysis of human dopaminergic neuroblastoma cells after RNA interference of SNCA--a key player in the pathogenesis of Parkinson's disease. Brain Res. 2009 Feb 23;1256:19-33. Epub 2008 Dec 24. PubMed PMID: 19135032.

Schüle R, Bonin M, Dürr A, Forlani S, Sperfeld AD, Klimpe S, Mueller JC, Seibel A, van de Warrenburg BP, Bauer P, Schöls L. Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24. Neurology. 2009 Jun 2;72(22):1893-8. Epub 2009 Apr 8. PubMed PMID: 19357379.

McMullan DJ, Bonin M, Hehir-Kwa JY, de Vries BB, Dufke A, Rattenberry E, Steehouwer M, Moruz L, Pfundt R, de Leeuw N, Riess A, Altug-Teber O, Enders H, Singer S, Grasshoff U, Walter M, Walker JM, Lamb CV, Davison EV, Brueton L, Riess O, Veltman JA. Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study. Hum Mutat. 2009 Jul;30(7):1082-92. PubMed PMID: 19388127.

Soehn AS, Pham TT, Schaeferhoff K, Floss T, Weisenhorn DM, Wurst W, Bonin M, Riess O. Periphilin is strongly expressed in the murine nervous system and is indispensable for murine development. Genesis. 2009 Oct;47(10):697-707. PubMed PMID: 19621438.

Kampa KM, Bonin M, Lopez CD. New insights into the expanding complexity of the tumor suppressor ASPP2. Cell Cycle. 2009 Sep 15;8(18):2871-6. Epub 2009 Sep 8. Review. PubMed PMID: 19657229.

Simón-Sánchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Krüger R, Federoff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA, Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S, Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ, Schatzkin A, Park Y, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, Gasser T. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet. 2009 Dec;41(12):1308-12. Epub 2009 Nov 15. PubMed PMID: 19915575; PubMed Central PMCID: PMC2787725.

Mezger M, Bonin M, Kessler T, Gebhardt F, Einsele H, Loeffler J. Toll-like receptor 3 has no critical role during early immune response of human monocyte-derived dendritic cells after infection with the human cytomegalovirus strain TB40E. Viral Immunol. 2009 Dec;22(6):343-51. PubMed PMID: 19951172.

2008

AG Dystonie

Grundmann K, Hübener J, Häbig K, Reischmann B, Poths S, Hauser TK, Magg J, Riess O., Bonin M, Nguyen HP. Gene expression changes in a transgenic mouse model overexpressing human wildtype and mutant torsinA.Proteomics –Clinical applications 2008 2: 635-784

Kamm C, Fischer H, Garavaglia B, Kullmann S, Sharma M, Schrader C, Grundmann K, Klein C, Borggräfe I, Lobsien E, Kupsch A, Nardocci N, Gasser T. Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism. Neurology. 2008 Jun 3;70(23):2261-2.

Zirn B, Grundmann K, Huppke P, Puthenparampil J, Wolburg H, Riess O, Müller U. Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).J Neurol Neurosurg Psychiatry. 2008 Dec;79(12):1327-30. Epub 2008 May 13.

Marx-Stoelting, P, Mahr J., Schreiber, S., Knorpp, T., Templin, M., Ott, T., Buchmann, A., Schwarz M. Tumor Promotion in Liver of Mice with a Conditional Cx26 Knockout. Toxicological Sciences 103 (2): 260-267 (2008).

AG Genomik

Wasner U, Geist B, Battefeld A, Bauer P, Müller J, Rolfs A, Strauss U. Specific properties of sodium currents in multipotent striatal progenitor cells. Eur J Neurosci. 2008; 28: 1068-79. IF 3,673

Globas C, du Montcel ST, Baliko L, Boesch S, Depondt C, DiDonato S, Dürr A, Filla A, Klockgether T, Mariotti C, Melegh B, Rakowicz M, Ribai P, Rola R, Schmitz-Hübsch T, Szymanski S, Timmann D, Van de Warrenburg BP, Bauer P, Schöls L. Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Mov Disord. 2008; 23: 2232-8. IF 3,207

Schmitz-Hübsch T, Coudert M, Bauer P, Giunti P, Globas C, Baliko L, Filla A, Mariotti C, Rakowicz M, Charles P, Ribai P, Szymanski S, Infante J, van de Warrenburg BP, Dürr A, Timmann D, Boesch S, Fancellu R, Rola R, Depondt C, Schöls L, Zdienicka E, Kang JS, Döhlinger S, Kremer B, Stephenson DA, Melegh B, Pandolfo M, di Donato S, du Montcel ST, Klockgether T. Spinocerebellar ataxia type 1, 2, 3, and 6. Disease severity and nonataxia symptoms. Neurology 2008; 71: 982-9. IF 6,014

Wahl C, Kautzmann S, Krebiehl G, Strauss K, Woitalla D, Müller T, Bauer P, Riess O, Krüger R. A comprehensive genetic study of the proteasomal subunit S6 ATPase in German Parkinson's disease patients. J Neural Transm. 2008; 115: 1141-8. IF 2,672

Schroeder C, Walter M, Berg D, Leitner P, Bauer P, Kohl Z, Winkler J, Riess O, Bonin M. High-throughput homogeneous mass cleave assay technology for the diagnosis of autosomal recessive Parkinson's disease. J Mol Diagn. 2008; 10:217-24. IF 3,478

Greve B, Simonenko R, Illes Z, Peterfalvi A, Hamdi N, Mycko MP, Selmaj KW, Rozsa C, Rajczy K, Bauer P, Berger K, Weissert R. Multiple sclerosis and the CTLA4 autoimmunity polymorphism CT60: no association in patients from Germany, Hungary and Poland. Mult Scler 2008; 14:153-8. IF 3,260

Riess O, Rüb U, Pastore A, Bauer P; Schöls L. SCA3: Neurological features, pathogenesis and animal models. Cerebellum 2008; 7:125-137. IF 2,306 (Review)

AG Huntington

Nguyen HP, Metzger S, Holzmann C, Koczan D, Thiesen HJ, von Hörsten S, Riess O, Bonin M. Age-dependent gene expression profile and protein expression in a transgenic rat model of Huntington's disease. Proteomics Clin Appl. 2008 Dec;2(12):1638-50.

Gellerich FN, Gizatullina Z, Nguyen HP, Trumbeckaite S, Vielhaber S, Seppet E, Zierz S, Landwehrmeyer B, Riess O, von Hörsten S, Striggow F. Impaired regulation of brain mitochondria by extramitochondrial Ca2+ in transgenic Huntington disease rats. J Biol Chem. 2008 Nov 7;283(45):30715-24.

Conforti P, Ramos C, Apostol BL, Simmons DA, Nguyen HP, Riess O, Thompson LM, Zuccato C, Cattaneo E. Blood level of brain-derived neurotrophic factor mRNA is progressively reduced in rodent models of Huntington's disease: restoration by the neuroprotective compound CEP-1347. Mol Cell Neurosci. 2008 Sep;39(1):1-7.

Bode FJ, Stephan M, Suhling H, Pabst R, Straub RH, Raber KA, Bonin M, Nguyen HP, Riess O, Bauer A, Sjoberg C, Petersen A, von Hörsten S. Sex differences in a transgenic rat model of Huntington's disease: decreased 17beta-estradiol levels correlate with reduced numbers of DARPP32+ neurons in males. Hum Mol Genet. 2008 Sep 1;17(17):2595-609.

Grundmann K, Hübener J, Häbig K, Reischmann B, Poths S, Hauser TK, Magg J, Riess O, Bonin M, Nguyen HP. Gene expression changes in a transgenic mouse model overexpressing human wildtype and mutant torsinA. Proteomics Clin Appl. 2008 May;2(5):720-36.

Nuber S, Petrasch-Parwez E, Winner B, Winkler J, von Hörsten S, Schmidt T, Boy J, Kuhn M, Nguyen HP, Teismann P, Schulz JB, Neumann M, Pichler BJ, Reischl G, Holzmann C, Schmitt I, Bornemann A, Kuhn W, Zimmermann F, Servadio A, Riess O. Neurodegeneration and motor dysfunction in a conditional model of Parkinson's disease. J Neurosci. 2008 Mar 5;28(10):2471-84.

Metzger S, Rong J, Nguyen HP, Cape A, Tomiuk J, Soehn AS, Propping P, Freudenberg-Hua Y, Freudenberg J, Tong L, Li SH, Li XJ, Riess O. Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease. Hum Mol Genet. 2008 Apr 15;17(8):1137-46.

AG Mentale Retardierung

Neumann TE, Allanson J, Kavamura I, Kerr B, Neri G, Noonan J, Cordeddu V, Gibson K, Tzschach A, Krüger G, Hoeltzenbein M, Goecke TO, Kehl HG, Albrecht B, Luczak K, Sasiadek MM, Musante L, Laurie R, Peters H, Tartaglia M, Zenker M, Kalscheuer V. Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. Eur J Hum Genet. 2009 Apr;17(4):420-5. Epub 2008 Oct 15.

Kahrizi K, Najmabadi H, Kariminejad R, Jamali P, Malekpour M, Garshasbi M, Ropers HH, Kuss AW, Tzschach A. An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4. Eur J Hum Genet. 2009 Jan;17(1):125-8. Epub 2008 Sep 10.

Erdogan F, Larsen LA, Zhang L, Tümer Z, Tommerup N, Chen W, Jacobsen JR, Schubert M, Jurkatis J, Tzschach A, Ropers HH, Ullmann R. High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. J Med Genet. 2008 Nov;45(11):704-9. Epub 2008 Aug 19.

Tzschach A, Bozorgmehr B, Hadavi V, Kahrizi K, Garshasbi M, Motazacker MM, Ropers HH, Kuss AW, Najmabadi H. Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients. Br J Dermatol. 2008 Sep;159(3):748-51. Epub 2008 Jul 4. No abstract available.

Kalscheuer VM, Musante L, Fang C, Hoffmann K, Fuchs C, Carta E, Deas E, Venkateswarlu K, Menzel C, Ullmann R, Tommerup N, Dalprà L, Tzschach A, Selicorni A, Lüscher B, Ropers HH, Harvey K, Harvey RJ. A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. Hum Mutat. 2009 Jan;30(1):61-8.

Tzschach A, Tinschert S, Kaminsky E, Lusga E, Mundlos S, Graul-Neumann LM. Czech dysplasia: report of a large family and further delineation of the phenotype. Am J Med Genet A. 2008 Jul 15;146A(14):1859-64.

Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. Hum Mutat. 2008 Oct;29(10):1237-46.

Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabadi H, Ropers HH, Kuss AW. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet. 2008 May;82(5):1158-64. Epub 2008 May 1.

Frints SG, Lenzner S, Bauters M, Jensen LR, Van Esch H, des Portes V, Moog U, Macville MV, van Roozendaal K, Schrander-Stumpel CT, Tzschach A, Marynen P, Fryns JP, Hamel B, van Bokhoven H, Chelly J, Beldjord C, Turner G, Gecz J, Moraine C, Raynaud M, Ropers HH, Froyen G, Kuss AW. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. Eur J Hum Genet. 2008 Sep;16(9):1029-37. Epub 2008 Apr 9.

Tzschach A, Kelbova C, Weidensee S, Peters H, Ropers HH, Ullmann R, Erdogan F, Jurkatis J, Menzel C, Kalscheuer V, Demuth S. Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23). Ophthalmic Genet. 2008 Mar;29(1):37-40.

Chen W, Kalscheuer V, Tzschach A, Menzel C, Ullmann R, Schulz MH, Erdogan F, Li N, Kijas Z, Arkesteijn G, Pajares IL, Goetz-Sothmann M, Heinrich U, Rost I, Dufke A, Grasshoff U, Glaeser B, Vingron M, Ropers HH. Mapping translocation breakpoints by next-generation sequencing. Genome Res. 2008 Jul;18(7):1143-9. Epub 2008 Mar 7.

Walczak-Sztulpa J, Wisniewska M, Latos-Bielenska A, Linné M, Kelbova C, Belitz B, Pfeiffer L, Kalscheuer V, Erdogan F, Kuss AW, Ropers HH, Ullmann R, Tzschach A. Chromosome deletions in 13q33-34: report of four patients and review of the literature. Am J Med Genet A. 2008 Feb 1;146(3):337-42. Review.

Tzschach A, Chen W, Erdogan F, Hoeller A, Ropers HH, Castellan C, Ullmann R, Schinzel A. Characterization of interstitial Xp duplications in two families by tiling path array CGH. Am J Med Genet A. 2008 Jan 15;146A(2):197-203.

AG Parkinson

Nuber S, Petrasch-Parwez E, Winner B, Winkler J, von Hörsten S, Schmidt T, Boy J, Kuhn M, Nguyen HP, Teismann P, Schulz JB, Neumann M, Pichler BJ, Reischl G, Holzmann C, Schmitt I, Bornemann A, Kuhn W, Zimmermann F, Servadio A, Riess O; Neurodegeneration and motor dysfunction in a conditional model of Parkinson's disease. J Neurosci. 2008 Mar 5;28(10):2471-84.

Gaenslen A, Unmuth B, Godau J, Liepelt I, Di Santo A, Schweitzer KJ, Gasser T, Machulla HJ, Reimold M, Marek K, Berg D; The specificity and sensitivity of transcranial ultrasound in the differential diagnosis of Parkinson's disease: a prospective blinded study. Lancet Neurol. 2008 May;7(5):417-24.

Liepelt I, Wendt A, Schweitzer KJ, Wolf B, Godau J, Gaenslen A, Bruessel T, Berg D; Substantia nigra hyperechogenicity assessed by transcranial sonography is related to neuropsychological impairment in the elderly population. J Neural Transm. 2008 Jul;115(7):993-9.

AG Transkriptomik

Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. Invest Ophthalmol Vis Sci. 2008 Feb;49(2):751-7. PubMed PMID: 18235024.

Altug-Teber O, Bonin M, Walter M, Mau-Holzmann UA, Dufke A, Stappert H, Tekesin I, Heilbronner H, Nieselt K, Riess O. Specific transcriptional changes in human fetuses with autosomal trisomies. Cytogenet Genome Res. 2007;119(3-4):171-84. Epub 2008 Feb 1. PubMed PMID: 18253026.

Waldmüller S, Müller M, Rackebrandt K, Binner P, Poths S, Bonin M, Scheffold T. Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. Clin Chem. 2008 Apr;54(4):682-7. Epub 2008 Feb 7. PubMed PMID: 18258667.

Bonin M, Marx FP, Kautzmann S, Riess O, Krüger R. Microarray expression analysis reveals genetic pathways implicated in C621 synphilin-1-mediated toxicity. J Neural Transm. 2008 Jul;115(7):941-58. Epub 2008 Feb 22. PubMed PMID: 18292964.

Schroeder C, Walter M, Berg D, Leitner P, Bauer P, Kohl Z, Winkler J, Riess O, Bonin M. High-throughput homogeneous mass cleave assay technology for the diagnosis of autosomal recessive Parkinson's disease. J Mol Diagn. 2008 May;10(3):217-24. Epub 2008 Apr 10. PubMed PMID: 18403612; PubMed Central PMCID: PMC2329786.

Grundmann K, Hübener J, Häbig K, Reischmann B, Poths S, Hauser TK, Magg J, Riess O, Bonin M, Nguyen HP. Gene expression changes in a transgenic mouse model overexpressing human wildtype and mutant torsinA. Proteomics Clin Appl. 2008 May;2(5):720-36. doi: 10.1002/prca.200780053. PubMed PMID: 21136869.

Bode FJ, Stephan M, Suhling H, Pabst R, Straub RH, Raber KA, Bonin M, Nguyen HP, Riess O, Bauer A, Sjoberg C, Petersén A, von Hörsten S. Sex differences in a transgenic rat model of Huntington's disease: decreased 17beta-estradiol levels correlate with reduced numbers of DARPP32+ neurons in males. Hum Mol Genet. 2008 Sep 1;17(17):2595-609. Epub 2008 May 23. PubMed PMID: 18502785.

Hoepken HH, Gispert S, Azizov M, Klinkenberg M, Ricciardi F, Kurz A, Morales-Gordo B, Bonin M, Riess O, Gasser T, Kögel D, Steinmetz H, Auburger G. Parkinson patient fibroblasts show increased alpha-synuclein expression. Exp Neurol. 2008 Aug;212(2):307-13. Epub 2008 Apr 16. PubMed PMID: 18511044.

Krischek B, Kasuya H, Tajima A, Akagawa H, Sasaki T, Yoneyama T, Ujiie H, Kubo O, Bonin M, Takakura K, Hori T, Inoue I. Network-based gene expression analysis of intracranial aneurysm tissue reveals role of antigen presenting cells. Neuroscience. 2008 Jul 17;154(4):1398-407. Epub 2008 May 2. PubMed PMID: 18538937.

Frank S, Burbach GJ, Bonin M, Walter M, Streit W, Bechmann I, Deller T. TREM2 is upregulated in amyloid plaque-associated microglia in aged APP23 transgenic mice. Glia. 2008 Oct;56(13):1438-47. PubMed PMID: 18551625.

Bauer P, Winner B, Schüle R, Bauer C, Häfele V, Hehr U, Bonin M, Walter M, Karle K, Ringer TM, Riess O, Winkler J, Schöls L. Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization. Neurogenetics. 2009 Feb;10(1):43-8. Epub 2008 Sep 12. PubMed PMID: 18787847.

Matteoli G, Fahl E, Warnke P, Müller S, Bonin M, Autenrieth IB, Bohn E. Role of IFN-gamma and IL-6 in a protective immune response to Yersinia enterocolitica in mice. BMC Microbiol. 2008 Sep 19;8:153. PubMed PMID: 18803824; PubMed Central PMCID: PMC2556677.

Nguyen HP, Metzger S, Holzmann C, Koczan D, Thiesen HJ, von Hörsten S, Riess O, Bonin M. Age-dependent gene expression profile and protein expression in a transgenic rat model of Huntington's disease. Proteomics Clin Appl. 2008 Dec;2(12):1638-50. doi: 10.1002/prca.200800018. Epub 2008 Oct 22. PubMed PMID: 21136814.

Conrad S, Renninger M, Hennenlotter J, Wiesner T, Just L, Bonin M, Aicher W, Bühring HJ, Mattheus U, Mack A, Wagner HJ, Minger S, Matzkies M, Reppel M, Hescheler J, Sievert KD, Stenzl A, Skutella T. Generation of pluripotent stem cells from adult human testis. Nature. 2008 Nov 20;456(7220):344-9. Epub 2008 Oct 8. Erratum in: Nature. 2009 Aug 20;460(7258):1044. PubMed PMID: 18849962.

2007

AG Dystonie

Grundmann K, Reischmann B, Vanhoutte G, Hübener J, Teismann P, Hauser TK, Bonin M, Wilbertz J, Horn S, Nguyen HP, Kuhn M, Chanarat S, Wolburg H, Van der Linden A, Riess O. Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities. Neurobiol Dis. 2007 Aug;27(2):190-206. Epub 2007 May 18.

AG Genomik

Hehr U*, Bauer P*, Winner B*, Schüle R*, Olmez A, Koehler W, Uyanik G, Engel A, Lenz D, Seibel A, Hehr A, Ploetz S, Gamez J, Rolfs A, Weis J, Ringer TM, Bonin M, Schuierer G, Marienhagen J, Bogdahn U, Weber BH, Topaloglu H, Schöls L, Riess O, Winkler J. Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Ann Neurol 2007; 62: 656-65. (* these authors contributed equally to the work). IF 8,813

Tomiuk J, Bachmann L, Bauer C, Rolfs A, Schöls L, Roos C, Zischler H, Schuler MM, Bruntner S, Riess O, Bauer P. Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach. Eur J Hum Genet 2007; 15:81-87. IF 4,003

Krämer UM, Cunillera T, Càmara E, Marco-Pallarés J, Cucurell D, Nager W, Bauer P, Schüle R, Schöls L, Rodriguez-Fornells A, Münte TF. The impact of catechol-O-methyltransferase and dopamine D4 receptor genotypes on neurophysiological markers of performance monitoring. J. Neurosci 2007; 27: 17190-8. IF 7,490

Meyer C, Schmid G, Görlitz S, Ernst M, Wilkens C, Wilhelms I, Kraus PH, Bauer P, Tomiuk J, Przuntek H, Mügge A, Schöls L. Cardiomyopathy in Friedreich's ataxia-assessment by cardiac MRI. Mov Disord. 2007; 22:1615-22. IF 3,207

Wüllner U, Schmitz-Hübsch T, Abele M, Antony G, Bauer P, Eggert K. Features of probable multiple system atrophy patients identified among 4770 patients with parkinsonism enrolled in the multicentre registry of the German Competence Network on Parkinson's disease. J Neural Transm. 2007;114:1161-5. IF 2,672

Schweitzer K, Brussel T, Leitner P, Krüger R, Bauer P, Woitalla D, Tomiuk J, Gasser T, Berg D. Transcranial ultrasound in different monogenetic subtypes of Parkinson's disease. J Neurol 2007; 254:613-616. IF 2,477

Abahuni N, Gispert S, Bauer P, Riess O, Krüger R, Becker T, Auburger G. Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease. Neurosci Lett 2007; 414:126-129. IF 2,085

AG Mentale Retardierung

Moheb LA, Tzschach A, Garshasbi M, Kahrizi K, Darvish H, Heshmati Y, Kordi A, Najmabadi H, Ropers HH, Kuss AW. Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. Eur J Hum Genet. 2008 Feb;16(2):270-3. Epub 2007 Nov 28.

Tzschach A, Ramel C, Kron A, Seipel B, Wüster C, Cordes U, Liehr T, Hoeltzenbein M, Menzel C, Ropers HH, Ullmann R, Kalscheuer V, Decker J, Steinberger D. Hypergonadotropic hypogonadism in a patient with inv ins (2;4). Int J Androl. 2009 Jun;32(3):226-30. Epub 2007 Nov 27.

Motazacker MM, Rost BR, Hucho T, Garshasbi M, Kahrizi K, Ullmann R, Abedini SS, Nieh SE, Amini SH, Goswami C, Tzschach A, Jensen LR, Schmitz D, Ropers HH, Najmabadi H, Kuss AW. A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet. 2007 Oct;81(4):792-8. Epub 2007 Aug 31.

Scherthan H, Abend M, Müller K, Beinke C, Braselmann H, Zitzelsberger H, Köhn FM, Pillekamp H, Schiener R, Das O, Peter RU, Herzog G, Tzschach A, Dörr HD, Fliedner TM, Meineke V. Radiation-induced late effects in two affected individuals of the Lilo radiation accident. Radiat Res. 2007 May;167(5):615-23.

Tzschach A, Menzel C, Erdogan F, Schubert M, Hoeltzenbein M, Barbi G, Petzenhauser C, Ropers HH, Ullmann R, Kalscheuer V. Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH. Am J Med Genet A. 2007 Feb 15;143(4):333-7.

de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H, Frints SG, Froyen G, Fryns JP, Raynaud M, Moizard MP, Ronce N, Bensalem A, Moraine C, Poirier K, Castelnau L, Saillour Y, Bienvenu T, Beldjord C, des Portes V, Chelly J, Turner G, Fullston T, Gecz J, Kuss AW, Tzschach A, Jensen LR, Lenzner S, Kalscheuer VM, Ropers HH, Hamel BC. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat. 2007 Feb;28(2):207-8.

Kalscheuer VM, FitzPatrick D, Tommerup N, Bugge M, Niebuhr E, Neumann LM, Tzschach A, Shoichet SA, Menzel C, Erdogan F, Arkesteijn G, Ropers HH, Ullmann R. Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet. 2007 May;121(3-4):501-9. Epub 2007 Jan 9.

Erdogan F, Ullmann R, Chen W, Schubert M, Adolph S, Hultschig C, Kalscheuer V, Ropers HH, Spaich C, Tzschach A. Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay. Am J Med Genet A. 2007 Jan 15;143(2):172-8.

Andreas Tzschach, Hans-Hilger Ropers: Genetik der mentalen Retardierung, Deutsches Ärzteblatt (2007) Jg. 104 Heft 20 Seite B1249-1254

AG Parkinson

Marx FP, Soehn AS, Berg D, Melle C, Schiesling C, Lang M, Kautzmann S, Strauss KM, Franck T, Engelender S, Pahnke J, Dawson S, von Eggeling F, Schulz JB, Riess O, Kruger R; The proteasomal subunit S6 ATPase is a novel synphilin-1 interacting protein--implications for Parkinson's disease. FASEB J. 2007 Jun;21(8):1759-67.

Kuhn M, Haebig K, Bonin M, Ninkina N, Buchman VL, Poths S, Riess O; Whole genome expression analyses of single- and double-knock-out mice implicate partially overlapping functions of alpha- and gamma-synuclein. Neurogenetics 2007; 8(2):71-81.

AG SCA Typ 3

Bichelmeier U, Schmidt T, Hübener J, Boy J, Rüttiger L, Häbig K, Poths S, Bonin M, Knipper M, Schmidt WJ, Wilbertz J, Wolburg H, Laccone F, Riess O (2007) Nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidence. J Neurosci 27(28):7418-28.

AG Transkriptomik

Skutella T, Conrad S, Hooge J, Bonin M, Alvarez-Bolado G. Microarray analysis of the fetal hippocampus in the Emx2 mutant. Dev Neurosci. 2007;29(1-2):28-47. PubMed PMID: 17148947.

Gehrig A, Langmann T, Horling F, Janssen A, Bonin M, Walter M, Poths S, Weber BH. Genome-wide expression profiling of the retinoschisin-deficient retina in early postnatal mouse development. Invest Ophthalmol Vis Sci. 2007 Feb;48(2):891-900. PubMed PMID: 17251492.

Kuhn M, Haebig K, Bonin M, Ninkina N, Buchman VL, Poths S, Riess O. Whole genome expression analyses of single- and double-knock-out mice implicate partially overlapping functions of alpha- and gamma-synuclein. Neurogenetics. 2007 Apr;8(2):71-81. Epub 2007 Feb 22. PubMed PMID: 17318638.

Jaworski M, Ittrich C, Hailfinger S, Bonin M, Buchmann A, Schwarz M, Köhle C. Global gene expression in Ha-ras and B-raf mutated mouse liver tumors. Int J Cancer. 2007 Sep 15;121(6):1382-5. PubMed PMID: 17514646.

Grundmann K, Reischmann B, Vanhoutte G, Hübener J, Teismann P, Hauser TK, Bonin M, Wilbertz J, Horn S, Nguyen HP, Kuhn M, Chanarat S, Wolburg H, Van der Linden A, Riess O. Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities. Neurobiol Dis. 2007 Aug;27(2):190-206. Epub 2007 May 18. PubMed PMID: 17601741.

Bichelmeier U, Schmidt T, Hübener J, Boy J, Rüttiger L, Häbig K, Poths S, Bonin M, Knipper M, Schmidt WJ, Wilbertz J, Wolburg H, Laccone F, Riess O. Nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidence. J Neurosci. 2007 Jul 11;27(28):7418-28. PubMed PMID: 17626202.

Weisschuh N, Alavi MV, Bonin M, Wissinger B. Identification of genes that are linked with optineurin expression using a combined RNAi--microarray approach. Exp Eye Res. 2007 Oct;85(4):450-61. Epub 2007 Jun 27. PubMed PMID: 17663987.

Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W, Uyanik G, Engel A, Lenz D, Seibel A, Hehr A, Ploetz S, Gamez J, Rolfs A, Weis J, Ringer TM, Bonin M, Schuierer G, Marienhagen J, Bogdahn U, Weber BH, Topaloglu H, Schols L, Riess O, Winkler J. Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Ann Neurol. 2007 Dec;62(6):656-65. PubMed PMID: 18067136.

Häbig K, Walter M, Poths S, Riess O, Bonin M. RNA interference of LRRK2-microarray expression analysis of a Parkinson's disease key player. Neurogenetics. 2008 May;9(2):83-94. Epub 2007 Dec 21. PubMed PMID: 18097693.

2006

AG Dystonie

Thomas Ott, Melanie Jokwitz, Diana Lenhard, Alessandro Romualdi, Frank Dombrowski, Carina Ittrich, Michael Schwarz and Klaus Willecke. Ablation of gap junctional communication in hepatocytes of transgenic mice does not lead to disrupted cellular homeostasis or increased spontaneous tumourigenesis. Europ. J. Cell Biol. 85(8):717-728 (2006).

AG Genomik

Bauer P, Kreuz FR, Bürk K, Saft C, Andrich J, Heilemann H, Riess O, Schöls L. Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause. Mov Disord 2006; 21:1734-1737. IF 3,323

Bauer P, Schöls L, Riess O. Spectrin mutations in spinocerebellar ataxia (SCA). Bioessays 2006; 28:785-787. IF 5,965 (Review)

Elbaz A, Nelson L, Payami H, Ioannidis J, Fiske B, Annesi G, Carmine Bellin A, Factor S, Ferrarese C, Hadjigeorgiou G, Higgins D, Kawakami H, Krüger R (Author appendix Germany: Riess O, Bauer P, Gasser T, Berg D), Marder K, Mayeux R, Mellick G, Nutt J, Ritz B, Samii A, Tanner C, Van Broeckhoven C, Van den Eeden S, Wirdefeldt K, Zabetian C, Dehem M, Montimurro J, Southwick A, Myers R, Trikalinos T. Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study. Lancet Neurology 2006; 5:917-923. IF 9,479

Konieczny M, Bauer P, Tomiuk J, Weisser G, Haan J, Berger K, Riess O, Schöls L. CAG repeats in Restless Legs syndrome. Am J Med Genet B Neuropsychiatr Genet 2006; 141:173-176. IF 4,463

Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Mariotti C, Lange HW, Weirich-Schwaiger H, Wenning GK, Seppi K, Melegh B, Havasi V, Baliko L, Wieczorek S, Zaremba J, Hoffman-Zacharska D, Sulek A, Basak AN, Soydan E, Zidovska J, Kebrdlova V, Pandolfo M, Ribai P, Kadasi L, Kvasnicova M, Weber BH, Kreuz F, Dose M, Stuhrmann M, Riess O. Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease. Hum Genet 2006; 120:285-292. IF 3,662

Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Soliveri P, Lange HW, Weirich-Schwaiger H, Wenning GK, Melegh B, Havasi V, Baliko L, Wieczorek S, Arning L, Zaremba J, Sulek A, Hoffman-Zacharska D, Basak AN, Ersoy N, Zidovska J, Kebrdlova V, Pandolfo M, Ribai P, Kadasi L, Kvasnicova M, Weber BH, Kreuz F, Dose M, Stuhrmann M, Riess O. The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. Neurogenetics 2006; 7:27-30. IF 4,250

Akbas N, Hochstrasser H, Deplazes J, Tomiuk J, Bauer P, Walter U, Behnke S, Riess O, Berg D. Screening for mutations of the HFE gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra. Neurosci Lett 2006; 407:16-19. IF 2,092

Haubenberger D, Prayer D, Bauer P, Pirker W, Zimprich A, Auff E. Spinocerebellar ataxia type 17 in a patient from an Indian kindred. J Neurol 2006; 253:1513-1515. IF 2,984

AG Huntington

Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Mariotti C, Lange HW, Weirich-Schwaiger H, Wenning GK, Seppi K, Melegh B, Havasi V, Baliko L, Wieczorek S, Zaremba J, Hoffman-Zacharska D, Sulek A, Basak AN, Soydan E, Zidovska J, Kebrdlova V, Pandolfo M, Ribai P, Kadasi L, Kvasnicova M, Weber BH, Kreuz F, Dose M, Stuhrmann M, Riess O (2006a) Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease. Hum Genet 120:285-292.

Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Soliveri P, Lange HW, Weirich-Schwaiger H, Wenning GK, Melegh B, Havasi V, Baliko L, Wieczorek S, Arning L, Zaremba J, Sulek A, Hoffman-Zacharska D, Basak AN, Ersoy N, Zidovska J, Kebrdlova V, Pandolfo M, Ribai P, Kadasi L, Kvasnicova M, Weber BH, Kreuz F, Dose M, Stuhrmann M, Riess O (2006b) The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. Neurogenetics 7:27-30.

Nguyen HP, Kobbe P, Rahne H, Wörpel T, Jäger B, Stephan M, Pabst R, Holzmann C, Riess O, Korr H, Kantor O, Petrasch-Parwez E, Wetzel R, Osmand A, von Hörsten S. Behavioral abnormalities precede neuropathological markers in rats transgenic for Huntington's disease. Hum Mol Genet. 2006 Nov 1;15(21):3177-94.

Cao C, Temel Y, Blokland A, Ozen H, Steinbusch HW, Vlamings R, Nguyen HP, von Hörsten S, Schmitz C, Visser-Vandewalle V. Progressive deterioration of reaction time performance and choreiform symptoms in a new Huntington's disease transgenic rat model. Behav Brain Res. 2006 Jun 30;170(2):257-61.

Kantor O, Temel Y, Holzmann C, Raber K, Nguyen HP, Cao C, Torkoglu HO, Rutten BP, Visser-Vandewalle V, Steinbusch HW, Blokland A, Korr H, Riess O, von Hörsten S, Schmitz C. Selective striatal neuron loss and alterations in behavior correlate with impaired striatal function in Huntington's disease transgenic rats. Neurobiol Dis. 2006 Jun;22(3):538-47.

AG Mentale Retardierung

Najmabadi H, Motazacker MM, Garshasbi M, Kahrizi K, Tzschach A, Chen W, Behjati F, Hadavi V, Nieh SE, Abedini SS, Vazifehmand R, Firouzabadi SG, Jamali P, Falah M, Seifati SM, Grüters A, Lenzner S, Jensen LR, Rüschendorf F, Kuss AW, Ropers HH. Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum Genet. 2007 Mar;121(1):43-8. Epub 2006 Nov 21.

Jensen LR, Lenzner S, Moser B, Freude K, Tzschach A, Wei C, Fryns JP, Chelly J, Turner G, Moraine C, Hamel B, Ropers HH, Kuss AW. X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11. Eur J Hum Genet. 2007 Jan;15(1):68-75. Epub 2006 Sep 13.

Tzschach A, Hoeltzenbein M, Hoffmann K, Menzel C, Beyer A, Ocker V, Wurster G, Raynaud M, Ropers HH, Kalscheuer V, Heilbronner H. Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3. Eur J Hum Genet. 2006 Dec;14(12):1317-20. Epub 2006 Aug 23.

Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet. 2006 Sep;120(2):171-8. Epub 2006 Jun 17.

Tzschach A, Krause-Plonka I, Menzel C, Knoblauch A, Toennies H, Hoeltzenbein M, Radke M, Ropers HH, Kalscheuer V. Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion. Am J Med Genet A. 2006 May 15;140(10):1108-10.

Tzschach A, Lenzner S, Moser B, Reinhardt R, Chelly J, Fryns JP, Kleefstra T, Raynaud M, Turner G, Ropers HH, Kuss A, Jensen LR. Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. Hum Mutat. 2006 Apr;27(4):389.

Yan KL, Zhang XJ, Wang ZM, Yang S, Zhang GL, Wang J, Xiao FL, Gao M, Cui Y, Chen JJ, Fan X, Sun LD, Xia Q, Zhang KY, Niu ZM, Xu SJ, Tzschach A, Ropers H, Huang W, Liu JJ. A novel MGST2 non-synonymous mutation in a Chinese pedigree with psoriasis vulgaris. J Invest Dermatol. 2006 May;126(5):1003-5.

Tzschach A, Krause-Plonka I, Menzel C, Kalscheuer V, Toennies H, Scherthan H, Knoblauch A, Radke M, Ropers HH, Hoeltzenbein M. Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences. Am J Med Genet A. 2006 Mar 1;140(5):496-502.

Tzschach A, Hoffmann K, Hoeltzenbein M, Bache I, Tommerup N, Bommer C, Körner H, Kalscheuer V, Ropers HH. Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris. Clin Genet. 2006 Feb;69(2):189-93. No abstract available.

Andreas Tzschach, Hans-Hilger Ropers: X-chromosomale mentale Retardierung, medgen 2006  18:187-193

Andreas Tzschach, Hans-Hilger Ropers: Genetische Ursachen der mentalen Retardierung, Kinderärztliche Praxis 77 (2006) Seite 260-264

AG Parkinson

Berg D, Hochstrasser H, Schweitzer KJ, Riess O; Disturbance of iron metabolism in Parkinson's disease - ultrasonography as a biomarker. Neurotox Res. 2006 Jan;9(1):1-13.

Franck T, Krueger R, Woitalla D, Müller T, Engelender S, Riess O; Mutation analysis of the seven in absentia homolog 1 (SIAH1) gene in Parkinson's disease. J Neural Transm. 2006 Dec;113(12):1903-8.

Riess O, Krueger R, Hochstrasser H, Soehn AS, Nuber S, Franck T, Berg D; Genetic causes of Parkinsons disease: extending the pathway. J Neural Transm (2006) [Suppl] 70: 1–9

Akbas N, Hochstrasser H, Deplazes J, Tomiuk J, Bauer P, Walter U, Behnke S, Riess O, Berg D; Screening for mutations of the HFE gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra. Neurosci Lett 2006, Vol. 407(1): 16-19

AG SCA Typ 3

Boy J, Leergaard TB, Schmidt T, Odeh F, Bichelmeier U, Nuber S, Holzmann C, Wree A, Prusiner SB, Bujard H, Riess O, Bjaalie JG. (2006) Expression mapping of tetracycline-responsive prion protein promoter: Digital atlasing for generating cell-specific disease models. Neuroimage 33(2): 449-62

AG Transkriptomik

Vogt IR, Lees AJ, Evert BO, Klockgether T, Bonin M, Wüllner U. Transcriptional changes in multiple system atrophy and Parkinson's disease putamen. Exp Neurol. 2006 Jun;199(2):465-78. Epub 2006 Apr 19. PubMed PMID: 16626704.

Schuetz CS, Bonin M, Clare SE, Nieselt K, Sotlar K, Walter M, Fehm T, Solomayer E, Riess O, Wallwiener D, Kurek R, Neubauer HJ. Progression-specific genes identified by expression profiling of matched ductal carcinomas in situ and invasive breast tumors, combining laser capture microdissection and oligonucleotide microarray analysis. Cancer Res. 2006 May 15;66(10):5278-86. PubMed PMID: 16707453.

Karstensen B, Poppelreuther S, Bonin M, Walter M, Iftner T, Stubenrauch F. Gene expression profiles reveal an upregulation of E2F and downregulation of interferon targets by HPV18 but no changes between keratinocytes with integrated or episomal viral genomes. Virology. 2006 Sep 15;353(1):200-9. Epub 2006 Jun 30. PubMed PMID: 16814354.

Braeuning A, Ittrich C, Köhle C, Hailfinger S, Bonin M, Buchmann A, Schwarz M. Differential gene expression in periportal and perivenous mouse hepatocytes. FEBS J. 2006 Nov;273(22):5051-61. Epub 2006 Oct 20. PubMed PMID: 17054714.

Beschorner R, Wehrmann M, Ernemann U, Bonin M, Horber V, Oehl-Jaschkowitz B, Meyermann R, Dufke A. Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome. Acta Neuropathol. 2007 Mar;113(3):339-46. Epub 2006 Dec 13. PubMed PMID: 17165030.

2005

AG Dystonie

Grundmann K. Primary Torsion Dystonia. Invited Review. Arch. Neurol 2005 Apr; 62: 682-685.

AG Genomik

Rolfs A, Böttcher T, Zschiesche M, Morris P, Winchester B, Bauer P, Walter U, Mix E, Löhr M, Harzer K, Strauss U, Pahnke J, Grossmann A, Benecke R. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005; 366: 1794-1796. IF 23,878

Berg D, Niwar M, Maass S, Zimprich A, Moller JC, Wüllner U, Schmitz-Hübsch T, Klein C, Tan EK, Schöls L, Marsh L, Dawson TM, Janetzky B, Müller T, Woitalla D, Kostic V, Pramstaller PP, Oertel WH, Bauer P, Krüger R, Gasser T, Riess O. Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients. Mov Disord 2005; 20:1191-1194. IF 2,830

Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schöls L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wüllner U, Brice A, Riess O, Stevanin G. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol 2005; 58:720-729. IF 7,571

Minnerop M, Joe A, Lutz M, Bauer P, Urbach H, Helmstaedter C, Reinhardt M, Klockgether T, Wüllner U. Putamen Dopamine Transporter and Glucose Metabolism Are Reduced in SCA17. Ann Neurol 2005; 58: 490-491. IF 7,571

Klein C, Djarmati A, Hedrich K, Schafer N, Scaglione C, Marchese R, Kock N, Schule B, Hiller A, Lohnau T, Winkler S, Wiegers K, Hering R, Bauer P, Riess O, Abbruzzese G, Martinelli P, Pramstaller PP. PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. Eur J Hum Genet 2005; 13:1086-1093. IF 3,251

AG Huntington

Bauer A, Zilles K, Matusch A, Holzmann C, Riess O, von Horsten S (2005) Regional and subtype selective changes of neurotransmitter receptor density in a rat transgenic for the Huntington's disease mutation. J Neurochem 94:639-650.

AG Mentale Retardierung

Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Rüschendorf F, Nürnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H. SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum Genet. 2006 Feb;118(6):708-15. Epub 2005 Nov 26.

AG Parkinson

Berg D, Niwar M, Maass S, Zimprich A, Möller JC, Wuellner U, Schmitz-Hübsch T, Klein C, Tan EK, Schöls L, Marsh L, Dawson TM, Janetzky B, Müller T, Woitalla D, Kostic V, Pramsteller PP, Oertel WH, Bauer P, Krueger R, Gasser T, Riess O; Alpha-Synuclein and Parkinons disease: Implications from the Screening of more than 1,900 patients. Movement Disord Vol. 20 No. 9 (2005),1191-1194

Hochstrasser H, Tomiuk J, Walter U, Behnke S, Spiegel J, Kruger R, Becker G, Riess O, Berg D; Functional relevance of ceruloplasmin mutations in Parkinson's disease. FASEB J. 2005 Nov;19(13):1851-3.

Hofer A, Berg D, Asmus F, Niwar M, Ransmayr G, Riemenschneider M, Bonelli SB, Steffelbauer M, Ceballos-Baumann A, Haussermann P, Behnke S, Kruger R, Prestel J, Sharma M, Zimprich A, Riess O, Gasser T; The role of alpha-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodies. J Neural Transm Vol. 112 No. 9 (2005),1249-1254

Strauss K, Miguel Martins L, Plun-Favreau H, Marx FP, Kautzmann S, Berg D, Gasser T, Wszolek Z, Müller T, Bornemann A, Wolburg H, Downward J, Riess O, Schulz JB, Krüger R; Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum Mol Genet Vol. 14 No. 15 (2005),2099-2111

AG Transkriptomik

Reiss J, Bonin M, Schwegler H, Sass JO, Garattini E, Wagner S, Lee HJ, Engel W, Riess O, Schwarz G. The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis. Mol Genet Metab. 2005 May;85(1):12-20. PubMed PMID: 15862276.

Stahl S, Ittrich C, Marx-Stoelting P, Köhle C, Altug-Teber O, Riess O, Bonin M, Jobst J, Kaiser S, Buchmann A, Schwarz M. Genotype-phenotype relationships in hepatocellular tumors from mice and man. Hepatology. 2005 Aug;42(2):353-61. PubMed PMID: 15965925.

Altug-Teber O, Dufke A, Poths S, Mau-Holzmann UA, Bastepe M, Colleaux L, Cormier-Daire V, Eggermann T, Gillessen-Kaesbach G, Bonin M, Riess O. A rapid microarray based whole genome analysis for detection of uniparental disomy. Hum Mutat. 2005 Aug;26(2):153-9. PubMed PMID: 15968682.

2004

AG Dystonie

Grundmann K., Laubis-Herrmann U., Dressler D., Vollmer-Haase J, Bauer P., Stuhrmann M, , Schöls L, Topka H., Riess O. Mutation at the SCA17 locus is not a common cause of primary dystonia. J Neurol. 2004 Oct;251:1232-4.

Grundmann K, Laubis-Herrmann U., Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M., Schöls L, Schulte T., Topka H., Riess O. Lack of Mutations in the Epsilon-Sarcoglycan Gene in Patients with Different Subtypes of Dystonias. Mov Disord. 2004 Nov;19:1294-7.

Dominik Eckardt, Martin Theis, Britta Döring, Dina Speidel, Klaus Willecke and Thomas Ott. Spontaneous ectopic recombination in cell-type-specific Cre mice removes loxP-flanked marker cassettes in vivo. Genesis 38(4): 159-165 (2004).

AG Genomik

Bauer P, Laccone F, Rolfs A, Wüllner U, Bösch S, Peters H, Liebscher S, Scheible M, Epplen JT, Weber BH, Holinski-Feder E, Weirich-Schwaiger H, Morris-Rosendahl DJ, Andrich J, Riess O. Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype. J Med Genet 2004; 41:230-232. IF 4,112

Jaworski M, Buchmann A, Bauer P, Riess O, Schwarz M. B-Raf and Ha-ras mutations in chemically induced mouse liver tumors. Oncogene 2004; 24:1290-1295. IF 6,318

Deplazes J, Schobel K, Hochstrasser H, Bauer P, Walter U, Behnke S, Spiegel J, Becker G, Riess O, Berg D. Screening for mutations of the IRP2 gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra. J Neural Transm 2004; 111:515-521. IF 2,628

Grundmann K, Laubis-Herrmann U, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, Schulte T, Schöls L, Topka H, Riess O. Mutation at the SCA17 locus is not a common cause of primary dystonia. J Neurol 2004; 251:1232-1234. IF 3,140

Grundmann K, Laubis-Herrmann U, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, Schulte T, Schöls L, Topka H, Riess O. Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias. Mov Disord 2004; 19:1294-1297. IF 3,093

Hering R, Strauss KM, Tao X, Bauer A, Woitalla D, Mietz EM, Petrovic S, Bauer P, Schaible W, Müller T, Schöls L, Klein C, Berg D, Meyer PT, Schulz JB, Wollnik B, Tong L, Krüger R, Riess O. Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). Hum Mutat 2004; 24:321-329. IF 6,845

Hering R, Petrovic S, Mietz EM, Holzmann C, Berg D, Bauer P, Woitalla D, Müller T, Berger K, Krüger R, Riess O. Extended mutation analysis and association studies of Nurr1 (NR4A2) in Parkinson disease. Neurology 2004; 62:1231-1232. IF 5,973

Hochstrasser H, Bauer P, Walter U, Behnke S, Spiegel J, Csoti I, Zeiler B, Bornemann A, Pahnke J, Becker G, Riess O, Berg D. Ceruloplasmin gene variations and substantia nigra hyperechogenicity in Parkinson disease. Neurology 2004; 63:1912-1917. IF 5,973

Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004; 3:291-304. IF 8,340 (Review)

Pahnke J, Mix E, Knoblich R, Muller J, Zschiesche M, Schubert B, Koczan D, Bauer P, Bottcher T, Thiesen HJ, Lazarov L, Wree A, Rolfs A. Overexpression of glial cell line-derived neurotrophic factor induces genes regulating migration and differentiation of neuronal progenitor cells. Exp Cell Res 2004; 297:484-494. IF 4,007

Peters S, Mix E, Bauer P, Weinelt S, Schubert B, Knoblich R, Bottcher T, Strauss U, Pahnke J, Cattaneo E, Wree A, Rolfs A. Wnt-5a expression in the rat neuronal progenitor cell line ST14A. Exp Brain Res 2004; 158:189-195. IF 2,304

AG Mentale Retardierung

Jensen LR, Amende M, Gurok U, Moser B, Gimmel V, Tzschach A, Janecke AR, Tariverdian G, Chelly J, Fryns JP, Van Esch H, Kleefstra T, Hamel B, Moraine C, Gecz J, Turner G, Reinhardt R, Kalscheuer VM, Ropers HH, Lenzner S. Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet. 2005 Feb;76(2):227-36. Epub 2004 Dec 7.

AG Parkinson

Berg D, Youdim MB, Riederer P; Redox imbalance. Cell Tissue Res Vol. 318 (2004),201-213

Deplazes J, Schobel K, Hochstrasser H, Bauer P, Walter U, Behnke S, Spiegel J, Becker G, Riess O, Berg D; Screening for mutations of the IRP2 gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra. J Neural Transm Vol. 111 (2004),515-521

Glass AS, Huynh DP, Franck T, Woitalla D, Müller T, Pulst SM, Berg D, Krüger R, Riess O; Screening for mutations in synaptotagmin XI in Parkinson's disease. J Neural Transm -SUPP Vol. 68 (2004),S21-S28

Hering R, Petrovic S, Mietz EM, Holzmann C, Berg D, Bauer P, Woitalla D, Muller T, Berger K, Kruger R, Riess O; Extended mutation analysis and association studies of Nurr1 (NR4A2) in parkinson disease. J Neurol Vol. 62 (2004),1231-1232

Hering R, Strauss KM, Tao X, Bauer A, Woitalla D, Mietz EM, Petrovic S, Bauer P, Schaible W, Muller T, Schols L, Klein C, Berg D, Meyer PT, Schulz JB, Wollnik B, Tong L, Kruger R, Riess O; Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). Hum Mutat Vol. 24 (2004),321-329

Hochstrasser H, Bauer P, Walter U, Behnke S, Spiegel J, Csoti I, Zeiler B, Bornemann A, Pahnke J, Becker G, Riess O, Berg D; Ceruloplasmin gene variations and substantia nigra hyperechogenicity in Parkinson disease. Neurology Vol. 63 (2004),1912-1917

Iova A, Garmashov A, Androuchtchenko N, Kehrer M, Berg D, Becker G, Garmashov Y; Postnatal decrease in substantia nigra echogenicity. Implications for the pathogenesis of Parkinson. J Neurol Vol. 251 No. 12 (2004), 1451-1454

Liani E, Eyal A, Avraham E, Shemer R, Szargel R, Berg D, Bornemann A, Riess O, Ross CA, Rott R, Engelender S; Ubiquitylation of synphilin-1 and alpha-synuclein by SIAH and its presence in cellular inclusions and lewy bodies imply a role in Parkinsons disease. PNAS USA Vol. 101 No. 15 (2004),5500-5505

AG SCA Typ 3

Schöls L, Bauer P, Schmidt T, Schulte T, Riess O (2004) Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 3:291-304

AG Transkriptomik

Bonin M, Poths S, Osaka H, Wang YL, Wada K, Riess O. Microarray expression analysis of gad mice implicates involvement of Parkinson's disease associated UCH-L1 in multiple metabolic pathways. Brain Res Mol Brain Res. 2004 Jul 5;126(1):88-97. PubMed PMID: 15207921.

2003

AG Dystonie

Grundmann K, Laubis-Herrmann U., Bauer I., Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M., Schöls L, Schulte T., Topka H., Riess O. Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. Arch Neurol 2003; 60:1266-1270

Markus Kretz, Carsten Euwens, Sonja Hombach, Dominik Eckardt, Barbara Teubner, Otto Traub, Klaus Willecke und Thomas Ott. Altered connexin expression and wound healing in the epidermis of connexin deficient mice. Journal of Cell Science 116: 3443-3452 (2003)

AG Genomik

Harzer K, Rolfs A, Bauer P, Zschiesche M, Mengel E, Backes J, Kustermann-Kuhn B, Bruchelt G, van Diggelen OP, Mayrhofer H, Krageloh-Mann I. Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K. Neuropediatrics 2003; 34:301-306. IF 1,383

Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, Schöls L, Riess O. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 2003; 54:367-375. IF 7,717

Schöls L, Bauer I, Zühlke C, Schulte T, Kolmel C, Bürk K, Topka H, Bauer P, Przuntek H, Riess O. Do CTG expansions at the SCA8 locus cause ataxia? Ann Neurol 2003; 54:110-115. IF 7,717

Weinelt S, Peters S, Bauer P, Mix E, Haas SJ, Dittmann A, Wree A, Cattaneo E, Knoblich R, Strauss U, Rolfs A. Ciliary neurotrophic factor overexpression in neural progenitor cells (ST14A) increases proliferation, metabolic activity, and resistance to stress during differentiation. J Neurosci Res 2003; 71:228-236. IF 3,374

Felletschin B, Bauer P, Walter U, Behnke S, Spiegel J, Csoti I, Sommer U, Zeiler B, Becker G, Riess O, Berg D. Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra. Neurosci Lett 2003; 352:53-56. IF 1,967

Grundmann K, Laubis-Herrmann U, Bauer I, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, Schulte T, Schöls L, Topka H, Riess O. Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. Arch Neurol 2003; 60:1266-1270. IF 4,684

AG Huntington

Zhou H, Cao F, Wang Z, Yu ZX, Nguyen HP, Evans J, Li SH, Li XJ. Huntingtin forms toxic NH2-terminal fragment complexes that are promoted by the age-dependent decrease in proteasome activity. J Cell Biol. 2003 Oct 13;163(1):109-18.

Li SH, Yu ZX, Li CL, Nguyen HP, Zhou YX, Deng C, Li XJ. Lack of huntingtin-associated protein-1 causes neuronal death resembling hypothalamic degeneration in Huntington's disease. J Neurosci. 2003 Jul 30;23(17):6956-64.

von Hörsten S, Schmitt I, Nguyen HP, Holzmann C, Schmidt T, Walther T, Bader M, Pabst R, Kobbe P, Krotova J, Stiller D, Kask A, Vaarmann A, Rathke-Hartlieb S, Schulz JB, Grasshoff U, Bauer I, Vieira-Saecker AM, Paul M, Jones L, Lindenberg KS, Landwehrmeyer B, Bauer A, Li XJ, Riess O. Transgenic rat model of Huntington's disease. Hum Mol Genet. 2003 Mar 15;12(6):617-24.

AG Mentale Retardierung

Kalscheuer VM, Freude K, Musante L, Jensen LR, Yntema HG, Gécz J, Sefiani A, Hoffmann K, Moser B, Haas S, Gurok U, Haesler S, Aranda B, Nshedjan A, Tzschach A, Hartmann N, Roloff TC, Shoichet S, Hagens O, Tao J, Van Bokhoven H, Turner G, Chelly J, Moraine C, Fryns JP, Nuber U, Hoeltzenbein M, Scharff C, Scherthan H, Lenzner S, Hamel BC, Schweiger S, Ropers HH. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nat Genet. 2003 Dec;35(4):313-5. Epub 2003 Nov 23.

AG Parkinson

Berg D, Holzmann C, Riess O; 14-3-3 proteins in the nervous system. Nat Rev Neurosci. 2003 Sep;4(9):752-62.

Berg D, Riess O, Bornemann A; Specification of 14-3-3 proteins in Lewy bodies. Ann Neurol 2003, 54:135.

Felletschin B, Bauer P, Walter U, Behnke S, Spiegel J, Csoti I, Sommer U, Zeiler B, Becker G, Riess O, Berg D; Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra. Neurosci Lett (2003) 352:53-56

Riess O, Berg D, Kruger R, Schulz JB; Therapeutic strategies for Parkinson's disease based on data derived from genetic research. J Neurol 2003; 250(Suppl1):3-10.

AG Transkriptomik

Klaue Y, Källman AM, Bonin M, Nellen W, Ohman M. Biochemical analysis and scanning force microscopy reveal productive and nonproductive ADAR2 binding to RNA substrates. RNA. 2003 Jul;9(7):839-46. PubMed PMID: 12810917; PubMed Central PMCID: PMC1370450.

2002

AG Dystonie

Martine Cohen-Salmon*, Thomas Ott*, Vincent Michel, Jean-Pierre Hardelin, Isabelle Perfettini, Michel Eybalin, Tao Wu, Daniel C. Marcus, Philine Wangemann, Klaus Willecke, and Christine Petit. Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment with massive apoptosis. Current Biology 12: 1106-1111 (2002)

AG Genomik

Bauer P, Knoblich R, Bauer C, Finckh U, Hufen A, Kropp J, Braun S, Kustermann-Kuhn B, Schmidt D, Harzer K, Rolfs A. NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes. Hum Mutat 2002; 19:30-38. IF 6,894

Bauer I, Gencik M, Laccone F, Peters H, Weber BH, Feder EH, Weirich H, Morris-Rosendahl DJ, Rolfs A, Gencikova A, Bauer P, Wenning GK, Epplen JT, Holmes SE, Margolis RL, Ross CA, Riess O. Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype. Ann Neurol 2002; 51:662. IF 8,603

AG Huntington

Yu ZX, Li SH, Nguyen HP, Li XJ. Huntingtin inclusions do not deplete polyglutamine-containing transcription factors in HD mice. Hum Mol Genet. 2002 Apr 15;11(8):905-14.

AG Mentale Retardierung

Kotzot D, Dufke A, Tzschach A, Baeckert-Sifeddine IT, Geppert M, Holland H, Florus JM, Froster UG. Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype. Am J Med Genet. 2002 Sep 15;112(1):51-5.

AG SCA Typ 3

Schmidt T, Lindenberg KS, Krebs A, Schöls L, Laccone F, Herms J, Rechsteiner M, Riess O, Landwehrmeyer GB (2002) Protein Surveillance Machinery in Brains with Spinocerebellar Ataxia Type 3: Redistribution and Differential Recruitment of 26S Proteasome Subunits and Chaperones to Neuronal Intranuclear Inclusions. Ann Neurol 51:302-10

AG Transkriptomik

Bonin M, Zhu R, Klaue Y, Oberstrass J, Oesterschulze E, Nellen W. Analysis of RNA flexibility by scanning force spectroscopy. Nucleic Acids Res. 2002 Aug 15;30(16):e81. PubMed PMID: 12177309; PubMed Central PMCID: PMC134254.

2001

AG Huntington

Kask A, Nguyen HP, Pabst R, von Hörsten S. Factors influencing behavior of group-housed male rats in the social interaction test: focus on cohort removal. Physiol Behav. 2001 Oct;74(3):277-82.

Kask A, Nguyen HP, Pabst R, Von Hörsten S. Neuropeptide Y Y1 receptor-mediated anxiolysis in the dorsocaudal lateral septum: functional antagonism of corticotropin-releasing hormone-induced anxiety. Neuroscience. 2001;104(3):799-806.

AG Mentale Retardierung

Tzschach A, Thamm B, Imthurn B, Weber W, Alexander H, Glander HJ, Froster U. Absence of Yq microdeletions in infertile men. Arch Androl. 2001 Nov-Dec;47(3):167-71.

AG Transkriptomik

Bonin M, Oberstrass J, Vogt U, Wassenegger M, Nellen W. Binding of IRE-BP to its cognate RNA sequence: SFM studies on a universal RNA backbone for the analysis of RNA-protein interaction. Biol Chem. 2001 Aug;382(8):1157-62. PubMed PMID: 11592396.

2000

AG Transkriptomik

Bonin M, Oberstrass J, Lukacs N, Ewert K, Oesterschulze E, Kassing R, Nellen W. Determination of preferential binding sites for anti-dsRNA antibodies on double-stranded RNA by scanning force microscopy. RNA. 2000 Apr;6(4):563-70. PubMed PMID: 10786847; PubMed Central PMCID: PMC1369937