Biobank

2022

Schmidt S, Luecken MD, Trümbach D, Hembach S, Niedermeier KM, Wenck N, Pflügler K, Stautner C, Böttcher A, Lickert H, Ramirez-Suastegui C, Ahmad R, Ziller MJ, Fitzgerald JC, Ruf V, van de Berg WDJ, Jonker AJ, Gasser T, Winner B, Winkler J, Vogt Weisenhorn DM, Giesert F, Theis FJ, Wurst W. Primary cilia and SHH signaling impairments in human and mouse models of Parkinson's disease. Nat Commun. 2022 Aug 16;13(1):4819.

2021

Becker S, Granert O, Timmers M, Pilotto A, Van Nueten L, Roeben B, et al. Association of Hippocampal Subfields, CSF Biomarkers, and Cognition in Patients With Parkinson Disease Without Dementia. Neurology. 2021;96(6):e904-e15.

2020

Wilke C, Haas E, Reetz K, Faber J, Garcia-Moreno H, Santana MM, et al. Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice. EMBO Mol Med. 2020;12(7):e11803.

2019

Nissen SK, Shrivastava K, Schulte C, Otzen DE, Goldeck D, Berg D, et al. Alterations in Blood Monocyte Functions in Parkinson's Disease. Mov Disord. 2019;34(11):1711-21.

2018

Blauwendraat C, Wilke C, Simon-Sanchez J, Jansen IE, Reifschneider A, Capell A, et al. The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects. Genet Med. 2018;20(2):240-9.

2017

Brockmann K, Lerche S, Dilger SS, Stirnkorb JG, Apel A, Hauser AK, et al. SNPs in Abeta clearance proteins: Lower CSF Abeta(1-42) levels and earlier onset of dementia in PD. Neurology. 2017;89(23):2335-40.

2016

Bacioglu M, Maia LF, Preische O, Schelle J, Apel A, Kaeser SA, et al. Neurofilament Light Chain in Blood and CSF as Marker of Disease Progression in Mouse Models and in Neurodegenerative Diseases. Neuron. 2016;91(1):56-66.

2015

Jansen IE, Bras JM, Lesage S, Schulte C, Gibbs JR, Nalls MA, et al. CHCHD2 and Parkinson's disease. Lancet Neurol. 2015;14(7):678-9.

2014 

Heinzel S, Gold M, Deuschle C, Bernhard F, Maetzler W, Berg D, Dodel R. Naturally occurring alpha-synuclein autoantibodies in Parkinson's disease: sources of (error) variance in biomarker assays. PLoS One. 2014 9(12):e114566. 

Wilke C, Deuschle C, Rattay TW, Maetzler W, Synofzik M. Total tau is increased, but phosphorylated tau not decreased, in cerebrospinal fluid in amyotrophic lateral sclerosis. Neurobiol Aging. 2014 Oct 18. 

Brockmann K, Srulijes K, Pflederer S, Hauser AK, Schulte C, Maetzler W, Gasser T, Berg D. GBA-associated Parkinson's disease: Reduced survival and more rapid progression in a prospective longitudinal study. Mov Disord. 2014 Dec 1. 

Maetzler W, Pilotto A, Apel A, Deuschle C, Kuebart G, Heinzel S, Liepelt-Scarfone I, Schulte C, Reusch D, Schleicher E, Rothfuss O, Schneider A, Dodel R, Gasser T, Berg D. In vivo markers of Parkinson's disease and dementia with Lewy bodies: current value of the 5G4 alpha-synuclein antibody. Acta Neuropathol. 2014 Dec;128(6):893-5. 

Fritschi SK, Langer F, Kaeser SA, Maia LF, Portelius E, Pinotsi D, Kaminski CF, Winkler DT, Maetzler W, Keyvani K, Spitzer P, Wiltfang J, Kaminski Schierle GS, Zetterberg H, Staufenbiel M, Jucker M. Highly potent soluble amyloid-beta seeds in human Alzheimer brain but not cerebrospinal fluid. Brain. 2014 Nov;137(Pt 11):2909-15. 

Laske C, Stellos K, Kempter I, Stransky E, Maetzler W, Fleming I, Randriamboavonjy V. Increased cerebrospinal fluid calpain activity and microparticle levels in Alzheimer's disease. Alzheimers Dement. 2014 Sep 4. 

Bras J, Guerreiro R, Darwent L, Parkkinen L, Ansorge O, Escott-Price V, Hernandez DG, Nalls MA, Clark LN, Honig LS, Marder K, Van Der Flier WM, Lemstra A, Scheltens P, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Ortega-Cubero S, Pastor P, Ferman TJ, Graff-Radford NR, Ross OA, Barber I, Braae A, Brown K, Morgan K, Maetzler W, Berg D, Troakes C, Al-Sarraj S, Lashley T, Compta Y, Revesz T, Lees A, Cairns N, Halliday GM, Mann D, Pickering-Brown S, Dickson DW, Singleton A, Hardy J. Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. 2014 Dec 1;23(23):6139-46. 

van der Zee J, Van Langenhove T, Kovacs GG, Dillen L, Deschamps W, Engelborghs S, Matej R, Vandenbulcke M, Sieben A, Dermaut B, Smets K, Van Damme P, Merlin C, Laureys A, Van Den Broeck M, Mattheijssens M, Peeters K, Benussi L, Binetti G, Ghidoni R, Borroni B, Padovani A, Archetti S, Pastor P, Razquin C, Ortega-Cubero S, Hernandez I, Boada M, Ruiz A, de Mendonca A, Miltenberger-Miltenyi G, do Couto FS, Sorbi S, Nacmias B, Bagnoli S, Graff C, Chiang HH, Thonberg H, Perneczky R, Diehl-Schmid J, Alexopoulos P, Frisoni GB, Bonvicini C, Synofzik M, Maetzler W, vom Hagen JM, Schols L, Haack TB, Strom TM, Prokisch H, Dols-Icardo O, Clarimon J, Lleo A, Santana I, Almeida MR, Santiago B, Heneka MT, Jessen F, Ramirez A, Sanchez-Valle R, Llado A, Gelpi E, Sarafov S, Tournev I, Jordanova A, Parobkova E, Fabrizi GM, Testi S, Salmon E, Strobel T, Santens P, Robberecht W, De Jonghe P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Sleegers K, Van Broeckhoven C. Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. Acta Neuropathol. 2014 Sep;128(3):397-410. 

Maetzler W, Apel A, Langkamp M, Deuschle C, Dilger SS, Stirnkorb JG, Schulte C, Schleicher E, Gasser T, Berg D. Comparable autoantibody serum levels against amyloid- and inflammation-associated proteins in Parkinson's disease patients and controls. PLoS One. 2014 9(2):e88604. 

Heni M, Schopfer P, Peter A, Sartorius T, Fritsche A, Synofzik M, Haring HU, Maetzler W, Hennige AM. Evidence for altered transport of insulin across the blood-brain barrier in insulin-resistant humans. Acta Diabetol. 2014 Aug;51(4):679-81. 

Huttenlocher J, Kruger R, Capetian P, Lohmann K, Brockmann K, Csoti I, Klein C, Berg D, Gasser T, Bonin M, Riess O, Bauer P. EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts. J Med Genet. 2014 Nov 3. 

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 C, Parkinson's Study Group Parkinson's Research: The Organized GI, andMe, GenePd, NeuroGenetics Research C, Hussman Institute of Human G, Ashkenazi Jewish Dataset I, Cohorts for H, Aging Research in Genetic E, North American Brain Expression C, United Kingdom Brain Expression C, Greek Parkinson's Disease C, Alzheimer Genetic Analysis G, 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. 

Beilina A, Rudenko IN, Kaganovich A, Civiero L, Chau H, Kalia SK, Kalia LV, Lobbestael E, Chia R, Ndukwe K, Ding J, Nalls MA, International Parkinson's Disease Genomics C, North American Brain Expression C, Olszewski M, Hauser DN, Kumaran R, Lozano AM, Baekelandt V, Greene LE, Taymans JM, Greggio E, Cookson MR. 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 Feb 18;111(7):2626-31. 

Nalls MA, Saad M, Noyce AJ, Keller MF, Schrag A, Bestwick JP, Traynor BJ, Gibbs JR, Hernandez DG, Cookson MR, Morris HR, Williams N, Gasser T, Heutink P, Wood N, Hardy J, Martinez M, Singleton AB, International Parkinson's Disease Genomics C, Wellcome Trust Case Control C, North American Brain Expression C, United Kingdom Brain Expression C. Genetic comorbidities in Parkinson's disease. Hum Mol Genet. 2014 Feb 1;23(3):831-41. 

Schondorf DC, Aureli M, McAllister FE, Hindley CJ, Mayer F, Schmid B, Sardi SP, Valsecchi M, Hoffmann S, Schwarz LK, Hedrich U, Berg D, Shihabuddin LS, Hu J, Pruszak J, Gygi SP, Sonnino S, Gasser T, Deleidi M. iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis. Nat Commun. 2014 5:4028. 

2013 

Vijayaraghavan  S, Maetzler W, Reimold M, Unger Lithner C, Liepelt-Scarfone I, Berg D, Darreh-Shori T. High Apolipoprotein E in cerebrospinal fluid of patients with Lewy body disorders is associated with dementia. Alzheimers & Dementia. 2013 accepted. 

Koehler NK, Stransky E, Shing M, Gaertner S, Meyer M, Schreitmuller B, Leyhe T, Laske C, Maetzler W, Kahle P, Celej MS, Jovin TM, Fallgatter AJ, Batra A, Buchkremer G, Schott K, Richartz-Salzburger E. Altered Serum IgG Levels to alpha-Synuclein in Dementia with Lewy Bodies and Alzheimer's Disease. PLoS One. 2013 8(5):e64649. 

Caesar M, Zach S, Carlson CB, Brockmann K, Gasser T, Gillardon F. Leucine-rich repeat kinase 2 functionally interacts with microtubules and kinase-dependently modulates cell migration. Neurobiol Dis. 2013 Jun;54:280-8. 

Klebe S, Golmard JL, Nalls MA, Saad M, Singleton AB, Bras JM, Hardy J, Simon-Sanchez J, Heutink P, Kuhlenbaumer G, Charfi R, Klein C, Hagenah J, Gasser T, Wurster I, Lesage S, Lorenz D, Deuschl G, Durif F, Pollak P, Damier P, Tison F, Durr A, Amouyel P, Lambert JC, Tzourio C, Maubaret C, Charbonnier-Beaupel F, Tahiri K, Vidailhet M, Martinez M, Brice A, Corvol JC, French Parkinson's Disease Genetics Study G, International Parkinson's Disease Genomics C. The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. J Neurol Neurosurg Psychiatry. 2013 Jun;84(6):666-73. 

Nalls MA, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith IG, Chinnery PF, Morris CM, Theuns J, Crosiers D, Cras P, Engelborghs S, De Deyn PP, Van Broeckhoven C, Mann DM, Snowden J, Pickering-Brown S, Halliwell N, Davidson Y, Gibbons L, Harris J, Sheerin UM, Bras J, Hardy J, Clark L, Marder K, Honig LS, Berg D, Maetzler W, Brockmann K, Gasser T, Novellino F, Quattrone A, Annesi G, De Marco EV, Rogaeva E, Masellis M, Black SE, Bilbao JM, Foroud T, Ghetti B, Nichols WC, Pankratz N, Halliday G, Lesage S, Klebe S, Durr A, Duyckaerts C, Brice A, Giasson BI, Trojanowski JQ, Hurtig HI, Tayebi N, Landazabal C, Knight MA, Keller M, Singleton AB, Wolfsberg TG, Sidransky E. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol. 2013 Jun;70(6):727-35. 

Brockmann K, Schulte C, Hauser AK, Lichtner P, Huber H, Maetzler W, Berg D, Gasser T. SNCA: Major genetic modifier of age at onset of Parkinson's disease. Mov Disord. 2013 May 14. Epub ahead of print. 

Srulijes K, Hauser AK, Guella I, Asselta R, Brockmann K, Schulte C, Solda G, Cilia R, Maetzler W, Schols L, Wenning GK, Poewe W, Barone P, Wullner U, Oertel W, Berg D, Goldwurm S, Gasser T. No association of GBA mutations and multiple system atrophy. Eur J Neurol. 2013 Apr;20(4):e61-2. 

Reinhardt P, Schmid B, Burbulla LF, Schondorf DC, Wagner L, Glatza M, Hoing S, Hargus G, Heck SA, Dhingra A, Wu G, Muller S, Brockmann K, Kluba T, Maisel M, Kruger R, Berg D, Tsytsyura Y, Thiel CS, Psathaki OE, Klingauf J, Kuhlmann T, Klewin M, Muller H, Gasser T, Scholer HR, Sterneckert J. Genetic correction of a LRRK2 mutation in human iPSCs links parkinsonian neurodegeneration to ERK-dependent changes in gene expression. Cell Stem Cell. 2013 Mar 7;12(3):354-67. 

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

Appenzeller S, Schulte C, Thier S, Hopfner F, Pendziwiat M, Papengut F, Klein C, Hagenah J, Kasten M, Srulijes K, Berg D, Gasser T, Singleton A, Deuschl G, Kuhlenbaumer G. No Association Between Polymorphisms in the Glutamate Transporter SLC1A2 and Parkinson's Disease. Mov Disord. 2013 Feb 6. Epub ahead of print. 

van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Engelborghs S, Philtjens S, Vandenbulcke M, Sleegers K, Sieben A, Baumer V, Maes G, Corsmit E, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schmid J, de Mendonca A, Miltenberger-Miltenyi G, Pereira S, Pimentel J, Nacmias B, Bagnoli S, Sorbi S, Graff C, Chiang HH, Westerlund M, Sanchez-Valle R, Llado A, Gelpi E, Santana I, Almeida MR, Santiago B, Frisoni G, Zanetti O, Bonvicini C, Synofzik M, Maetzler W, Vom Hagen JM, Schols L, Heneka MT, Jessen F, Matej R, Parobkova E, Kovacs GG, Strobel T, Sarafov S, Tournev I, Jordanova A, Danek A, Arzberger T, Fabrizi GM, Testi S, Salmon E, Santens P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, Ramirez A, Kurzwelly D, Sachtleben C, Mairer W, Firmo C, Antonell A, Molinuevo J, Kinhult Stahlbom A, Thonberg H, Nennesmo I, Borjesson-Hanson A, Bessi V, Piaceri I, Helena Ribeiro M, Oliveira C, Massano J, Garret C, Pires P, Danel A, Ferrari S, Cavallaro T, European Early-Onset Dementia C. A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Hum Mutat. 2013 Feb;34(2):363-73. 

Laske C, Schmohl M, Leyhe T, Stransky E, Maetzler W, Berg D, Fallgatter AJ, Joos T, Dietzsch J. Immune profiling in blood identifies sTNF-R1 performing comparably well as biomarker panels for classification of Alzheimer's disease patients. J Alzheimers Dis. 2013 Jan 1;34(2):367-75. 

2012 

Synofzik M, Maetzler W, Grehl T, Prudlo J, Vom Hagen JM, Haack T, Rebassoo P, Munz M, Schols L, Biskup S. Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. Neurobiol Aging. 2012 Dec;33(12):2949 e13-7. 

Sathe K*, Maetzler W*, Lang JD, Mounsey RB, Fleckenstein C, Martin HL, Schulte C, Mustafa S, Synofzik M, Vukovic Z, Itohara S, Berg D, Teismann P. S100B is increased in Parkinson's disease and ablation protects against MPTP-induced toxicity through the RAGE and TNF-alpha pathway. Brain. 2012 Nov;135(Pt 11):3336-47. *equal contribution 

Synofzik M, Schicks J, Srulijes K, Schulte C, Schiele F, Berg D, Schols L. POLG and PEO1 (Twinkle) mutations are infrequent in PSP-like atypical parkinsonism: a preliminary screening study. J Neurol. 2012 Oct;259(10):2232-3. 

Brosseron F, May C, Schoenebeck B, Tippler B, Woitalla D, Kauth M, Brockmann K, Meyer HE, Berg D, Bufe A, Marcus K. Stepwise isolation of human peripheral erythrocytes, T lymphocytes, and monocytes for blood cell proteomics. Proteomics Clin Appl. 2012 Oct;6(9-10):497-501. 

Weiss D, Brockmann K, Srulijes K, Meisner C, Klotz R, Reinbold S, Hauser AK, Schulte C, Berg D, Gasser T, Plewnia C, Gharabaghi A, Breit S, Wachter T, Kruger R. Long-term follow-up of subthalamic nucleus stimulation in glucocerebrosidase-associated Parkinson's disease. J Neurol. 2012 Sep;259(9):1970-2. 

Maetzler W, Tian Y, Baur SM, Gauger T, Odoj B, Schmid B, Schulte C, Deuschle C, Heck S, Apel A, Melms A, Gasser T, Berg D. Serum and cerebrospinal fluid levels of transthyretin in Lewy body disorders with and without dementia. PLoS One. 2012 7(10):e48042. 

Blauw HM, van Rheenen W, Koppers M, Van Damme P, Waibel S, Lemmens R, van Vught PW, Meyer T, Schulte C, Gasser T, Cuppen E, Pasterkamp RJ, Robberecht W, Ludolph AC, Veldink JH, van den Berg LH. NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis. Hum Mol Genet. 2012 Jun 1;21(11):2497-502. 

Schmid SP, Schleicher ED, Cegan A, Deuschle C, Baur S, Hauser AK, Synofzik M, Srulijes K, Brockmann K, Berg D, Maetzler W. Cerebrospinal fluid fatty acids in glucocerebrosidase-associated Parkinson's disease. Mov Disord. 2012 Feb;27(2):288-92. 

Maetzler W, Langkamp M, Lerche S, Godau J, Brockmann K, Gaenslen A, Huber H, Wurster I, Niebler R, Eschweiler GW, Berg D. Lowered serum amyloid-beta1-42 autoantibodies in individuals with lifetime depression. J Alzheimers Dis. 2012 32(1):95-100. 

2011 

van Es MA, Schelhaas HJ, van Vught PW, Ticozzi N, Andersen PM, Groen EJ, Schulte C, Blauw HM, Koppers M, Diekstra FP, Fumoto K, LeClerc AL, Keagle P, Bloem BR, Scheffer H, van Nuenen BF, van Blitterswijk M, van Rheenen W, Wills AM, Lowe PP, Hu GF, Yu W, Kishikawa H, Wu D, Folkerth RD, Mariani C, Goldwurm S, Pezzoli G, Van Damme P, Lemmens R, Dahlberg C, Birve A, Fernandez-Santiago R, Waibel S, Klein C, Weber M, van der Kooi AJ, de Visser M, Verbaan D, van Hilten JJ, Heutink P, Hennekam EA, Cuppen E, Berg D, Brown RH, Jr., Silani V, Gasser T, Ludolph AC, Robberecht W, Ophoff RA, Veldink JH, Pasterkamp RJ, de Bakker PI, Landers JE, van de Warrenburg BP, van den Berg LH. Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol. 2011 Dec;70(6):964-73. 

Brockmann K, Groger A, Di Santo A, Liepelt I, Schulte C, Klose U, Maetzler W, Hauser AK, Hilker R, Gomez-Mancilla B, Berg D, Gasser T. Clinical and brain imaging characteristics in leucine-rich repeat kinase 2-associated PD and asymptomatic mutation carriers. Mov Disord. 2011 Nov;26(13):2335-42. 

Ross OA, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Van Broeckhoven C, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Ferraris A, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, van de Loo S, Vassilatis DK, Vilarino-Guell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Farrer MJ, Genetic Epidemiology Of Parkinson's Disease C. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol. 2011 Oct;10(10):898-908. 

Srulijes K, Mallien G, Bauer S, Dietzel E, Groger A, Ebersbach G, Berg D, Maetzler W. In vivo comparison of Richardson's syndrome and progressive supranuclear palsy-parkinsonism. J Neural Transm. 2011 Aug;118(8):1191-7. 

Brockmann K, Srulijes K, Hauser AK, Schulte C, Csoti I, Gasser T, Berg D. GBA-associated PD presents with nonmotor characteristics. Neurology. 2011 Jul 19;77(3):276-80. 

Godau J, Knauel K, Weber K, Brockmann K, Maetzler W, Binder G, Berg D. Serum insulinlike growth factor 1 as possible marker for risk and early diagnosis of Parkinson disease. Arch Neurol. 2011 Jul;68(7):925-31. 

Hoglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P, Group PSPGS, Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu CE, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Muller U, Schellenberg GD. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet. 2011 Jul;43(7):699-705. 

International Parkinson's Disease Genomics C, Wellcome Trust Case Control C. A two-stage meta-analysis identifies several new loci for Parkinson's disease. PLoS Genet. 2011 Jun;7(6):e1002142. 

Laske C, Fallgatter AJ, Stransky E, Hagen K, Berg D, Maetzler W. Decreased alpha-synuclein serum levels in patients with Lewy body dementia compared to Alzheimer's disease patients and control subjects. Dement Geriatr Cogn Disord. 2011 31(6):413-6. 

Elbaz A, Ross OA, Ioannidis JP, Soto-Ortolaza AI, Moisan F, Aasly J, Annesi G, Bozi M, Brighina L, Chartier-Harlin MC, Destee A, Ferrarese C, Ferraris A, Gibson JM, Gispert S, Hadjigeorgiou GM, Jasinska-Myga B, Klein C, Kruger R, Lambert JC, Lohmann K, van de Loo S, Loriot MA, Lynch T, Mellick GD, Mutez E, Nilsson C, Opala G, Puschmann A, Quattrone A, Sharma M, Silburn PA, Stefanis L, Uitti RJ, Valente EM, Vilarino-Guell C, Wirdefeldt K, Wszolek ZK, Xiromerisiou G, Maraganore DM, Farrer MJ, Genetic Epidemiology of Parkinson's Disease C. Independent and joint effects of the MAPT and SNCA genes in Parkinson disease. Ann Neurol. 2011 May;69(5):778-92. 

Kruger R, Sharma M, Riess O, Gasser T, Van Broeckhoven C, Theuns J, Aasly J, Annesi G, Bentivoglio AR, Brice A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Klein C, Lambert JC, Lesage S, Lin JJ, Lynch T, Mellick GD, de Nigris F, Opala G, Prigione A, Quattrone A, Ross OA, Satake W, Silburn PA, Tan EK, Toda T, Tomiyama H, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Maraganore DM, Genetic Epidemiology of Parkinson's disease C. A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease. Neurobiol Aging. 2011 Mar;32(3):548 e9-18. 

Roder C, Peters V, Kasuya H, Nishizawa T, Wakita S, Berg D, Schulte C, Khan N, Tatagiba M, Krischek B. Analysis of ACTA2 in European Moyamoya disease patients. Eur J Paediatr Neurol. 2011 Mar;15(2):117-22. 

International Parkinson Disease Genomics C, Nalls MA, Plagnol V, Hernandez DG, Sharma M, Sheerin UM, Saad M, Simon-Sanchez J, Schulte C, Lesage S, Sveinbjornsdottir S, Stefansson 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. 

Roder C, Peters V, Kasuya H, Nishizawa T, Takehara Y, Berg D, Schulte C, Khan N, Tatagiba M, Krischek B. Common genetic polymorphisms in moyamoya and atherosclerotic disease in Europeans. Childs Nerv Syst. 2011 Feb;27(2):245-52. 

Maetzler W, Stapf AK, Schulte C, Hauser AK, Lerche S, Wurster I, Schleicher E, Melms A, Berg D. Serum and cerebrospinal fluid uric acid levels in lewy body disorders: associations with disease occurrence and amyloid-beta pathway. J Alzheimers Dis. 2011 27(1):119-26. 

Maetzler W, Berg D, Synofzik M, Brockmann K, Godau J, Melms A, Gasser T, Hornig S, Langkamp M. Autoantibodies against amyloid and glial-derived antigens are increased in serum and cerebrospinal fluid of Lewy body-associated dementias. J Alzheimers Dis. 2011 26(1):171-9. 

Maetzler W, Schmid SP, Wurster I, Liepelt I, Gaenslen A, Gasser T, Berg D. Reduced but not oxidized cerebrospinal fluid glutathione levels are lowered in Lewy body diseases. Mov Disord. 2011 Jan;26(1):176-81.  

2010 

Roder C, Peters V, Kasuya H, Nishizawa T, Takehara Y, Berg D, Schulte C, Khan N, Tatagiba M, Krischek B. Polymorphisms in TGFB1 and PDGFRB are associated with Moyamoya disease in European patients. Acta Neurochir (Wien). 2010 Dec;152(12):2153-60. 

Tomlinson CL, Stowe R, Patel S, Rick C, Gray R, Clarke CE. Systematic review of levodopa dose equivalency reporting in Parkinson's disease. Mov Disord. 2010 Nov 15;25(15):2649-53. 

Synofzik M, Schule R, Schulte C, Kruger R, Lindig T, Schols L, Asmus F. Complex hyperkinetic movement disorders associated with POLG mutations. Mov Disord. 2010 Oct 30;25(14):2472-5. 

Blauw HM, Al-Chalabi A, Andersen PM, van Vught PW, Diekstra FP, van Es MA, Saris CG, Groen EJ, van Rheenen W, Koppers M, Van't Slot R, Strengman E, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Kiemeney LA, Vermeulen SH, Birve A, Waibel S, Meyer T, Cronin S, McLaughlin RL, Hardiman O, Sapp PC, Tobin MD, Wain LV, Tomik B, Slowik A, Lemmens R, Rujescu D, Schulte C, Gasser T, Brown RH, Jr., Landers JE, Robberecht W, Ludolph AC, Ophoff RA, Veldink JH, van den Berg LH. A large genome scan for rare CNVs in amyotrophic lateral sclerosis. Hum Mol Genet. 2010 Oct 15;19(20):4091-9. 

Laske C, Stransky E, Hoffmann N, Maetzler W, Straten G, Eschweiler GW, Leyhe T. Macrophage colony-stimulating factor (M-CSF) in plasma and CSF of patients with mild cognitive impairment and Alzheimer's disease. Curr Alzheimer Res. 2010 Aug;7(5):409-14. 

Synofzik M, Fernandez-Santiago R, Maetzler W, Schols L, Andersen PM. The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2010 Jul;81(7):764-7. 

Maetzler W, Schmid B, Synofzik M, Schulte C, Riester K, Huber H, Brockmann K, Gasser T, Berg D, Melms A. The CST3 BB genotype and low cystatin C cerebrospinal fluid levels are associated with dementia in Lewy body disease. J Alzheimers Dis. 2010 19(3):937-42. 

Maetzler W, Stoycheva V, Schmid B, Schulte C, Hauser AK, Brockmann K, Melms A, Gasser T, Berg D. Neprilysin activity in cerebrospinal fluid is associated with dementia and amyloid-beta42 levels in Lewy body disease. J Alzheimers Dis. 2010 22(3):933-8. 

2010  

Simon-Sanchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Kruger 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. 

Elstner M, Morris CM, Heim K, Lichtner P, Bender A, Mehta D, Schulte C, Sharma M, Hudson G, Goldwurm S, Giovanetti A, Zeviani M, Burn DJ, McKeith IG, Perry RH, Jaros E, Kruger R, Wichmann HE, Schreiber S, Campbell H, Wilson JF, Wright AF, Dunlop M, Pistis G, Toniolo D, Chinnery PF, Gasser T, Klopstock T, Meitinger T, Prokisch H, Turnbull DM. Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol. 2009 Dec;66(6):792-8. 

Madzar D, Schulte C, Gasser T. Screening for LRRK2 R1441 mutations in a cohort of PSP patients from Germany. Eur J Neurol. 2009 Nov;16(11):1230-2. 

Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Durr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009 Oct 22;361(17):1651-61. 

Schulte C, Synofzik M, Gasser T, Schols L. Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. Neurology. 2009 Sep 15;73(11):898-900. 

Maetzler W, Keller S, Michelis J, Koehler N, Stransky E, Becker C, Schulte C, Melms A, Gasser T, Berg D. No differences of butyrylcholinesterase protein activity and allele frequency in Lewy body diseases. Neurobiol Dis. 2009 Aug;35(2):296-301. 

Zimprich A, Schulte C, Reinthaler E, Haubenberger D, Balzar J, Lichtner P, El Tawil S, Edris S, Foki T, Pirker W, Katzenschlager R, Daniel G, Brucke T, Auff E, Gasser T. PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease. Parkinsonism Relat Disord. 2009 Aug;15(7):532-4. 

Maetzler W, Michelis J, Tomiuk J, Melms A, Becker C, Gasser T, Schulte C, Berg D. A single-nucleotide polymorphism of the osteopontin gene may contribute to a susceptibility to Lewy body disease. J Neural Transm. 2009 May;116(5):599-605. 

Scholz SW, Houlden H, Schulte C, Sharma M, Li A, Berg D, Melchers A, Paudel R, Gibbs JR, Simon-Sanchez J, Paisan-Ruiz C, Bras J, Ding J, Chen H, Traynor BJ, Arepalli S, Zonozi RR, Revesz T, Holton J, Wood N, Lees A, Oertel W, Wullner U, Goldwurm S, Pellecchia MT, Illig T, Riess O, Fernandez HH, Rodriguez RL, Okun MS, Poewe W, Wenning GK, Hardy JA, Singleton AB, Del Sorbo F, Schneider S, Bhatia KP, Gasser T. SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol. 2009 May;65(5):610-4. 

Fuchs J, Mueller JC, Lichtner P, Schulte C, Munz M, Berg D, Wullner U, Illig T, Sharma M, Gasser T. The transcription factor PITX3 is associated with sporadic Parkinson's disease. Neurobiol Aging. 2009 May;30(5):731-8. 

Straten G, Eschweiler GW, Maetzler W, Laske C, Leyhe T. Glial cell-line derived neurotrophic factor (GDNF) concentrations in cerebrospinal fluid and serum of patients with early Alzheimer's disease and normal controls. J Alzheimers Dis. 2009 18(2):331-7. 

Laske C, Stransky E, Leyhe T, Eschweiler GW, Maetzler W, Wittorf A, Soekadar S, Richartz E, Koehler N, Bartels M, Buchkremer G, Schott K. BDNF serum and CSF concentrations in Alzheimer's disease, normal pressure hydrocephalus and healthy controls. J Psychiatr Res. 2007 Aug;41(5):387-94. 

Maetzler W, Berg D, Schalamberidze N, Melms A, Schott K, Mueller JC, Liaw L, Gasser T, Nitsch C. Osteopontin is elevated in Parkinson's disease and its absence leads to reduced neurodegeneration in the MPTP model. Neurobiol Dis. 2007 Mar;25(3):473-82.

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