Publikationen

2011

Krüger R, Sharma M, Riess O, Gasser T, van Broeckhoven C, Theuns J, Aasly JO, Annesi G, Bentivoglio AR, Brice A, Brighina L, Chartier-Harlin MC, Farrer M, Ferrarese C, Ferraris A, Hadjigeorgiou GM, Hattori N, Klein C, Lesage S, Lin JJ, Lynch T, Maraganore DM,  Mellick G, Nilsson C, Nuytemans K, Opala G, Prigione A, Quattrone A, Silburn PA, Tan EK, Toda T, Tomiyama H, Valente EM, Wirdefelt K, Wszolek ZK and Maraganore DM for the Genetic Epidemiology of Parkinson disease  consortium. (2011) A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease. Neurobiol Aging 32: 548.e9–548.e18

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

Fitzgerald JC, Wu SH, Dunn L, Krüger R, Martins LM, Wood NW, Plun-Favreau H. (2011) Phosphorylation of HtrA2 by cyclin dependent kinase 5 modulates its neuroprotective function. Cell Death Differ (published online; doi: 10.1038/cdd.2011.90)

Nuber S, Petrasch-Parwez E, Arias-Carrion O, Hoeglinger G, Wurst C, Kohl Z, Schneider J, Calaminus C, Kahle PJ, Krüger R, Demietzel R, Samarina A, Fendt M, Nguyen H, von Hörsten S,  Teismann P, Velavan TP, Schmidt T, Winkler J, Riess O. (2011) Olfactorial Expression of Mutant A30P alpha-Synuclein in Conditional Mouse Brain: Implications for Early Stage of Parkinson’s Disease. Neurobiol disease; Neurobiol Dis 44:192-204

Sharma M, Gasser T, Maraganore DM, J Ioannidis, Riess O, van Broeckhoven C, Aasly J, Annesi G, Bentivoglio AR, Brice A, Brighina L, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Gispert S, Hattori N, Jasinska-Myga B, Klein C, Lesage S, Lynch T, , Mellick GD, Chartier-Harlin MC, de Nigris F, Opala G, Prigione A, Quattrone A, Roageva E, Ross O, Satake W, Silburn PA, Theuns J, Toda T, Tomiyama H, Wirdefeldt K, Wszolek Z and Krüger R on behalf of the Genetic Epidemiology of Parkinson disease  consortium. (2011) Role of sepiapterin reductase (SPR) gene at the PARK3 locus in Parkinson disease: A large multi-centre study. Neurobiol Aging 32: 2108.e1-5

Ross OA, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon J, Bardien S, Bozi M, Brice A, Brighina L, van Broeckhoven C,Carr J, Chartier-Harlin MC, Dardiotis E, Diehl N, Ferrarese C, Ferraris A, Friske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Heckman MG, Jasinska-Myga, B, Jeon BS, Kim YJ, Klein C, Krüger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM,  Mellick G, Nilsson C, Nuytemans K, Opala G, Sup Park S, Pedersen NL, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Tomiyama H, Uitti R, Valente EM, van de Loo S, Vassilatis D, Vilariño-Güell C, White LR, Wirdefelt K, Wszolek ZK, Wu RM and Farrer MJ on behalf of the Genetic Epidemiology Of Parkinson’s Disease (GEOPD) consortium. (2011) LRRK2 exonic variants and susceptibility to Parkinson’s disease. Lancet Neurology 10: 898-908

Gispert S, Kurz A, Waibel S, Bauer P, Liepelt I, Geisen C, Gitler AD, Becker T, Weber M, Schulte C,  Berg D, Andersen PM, Krüger R, Riess O, Ludolph AC, Auburger G. (2011) The modulation of Amyotrophic Lateral Sclerosis risk by Ataxin-2 intermediate polyglutamine expansions is a specific effect. Neurobiol Dis 45: 356-61

Burbulla LF, Krüger R. (2011) Converging pathways of genes and environment in the pathogenesis of Parkinson’s disease. J Neurol Sci 306: 1-8

Sharma M, C, Aasly J, Annesi G, Bentivoglio AR, Brice A, Brighina L, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Gispert S, Hattori N, Jasinska-Myga B, Klein C, Lesage S, Lynch T, , Mellick GD, Chartier-Harlin MC, de Nigris F, Opala G, Prigione A, Quattrone A, Roageva E, Ross O, Satake W, Silburn PA, Theuns J, Toda T, Tomiyama H, Wirdefeldt K, Wszolek Z, Gasser T, Maraganore DM and Krüger R on behalf of the Genetic Epidemiology of Parkinson disease  consortium.  Large scale replication and heterogeneity in Parkinson’s disease genetic loci. Neurology (in press)

Sharma M,  Krüger R, Gasser T. LRRK2: Understanding the role of common and rare variants in Parkinson disease. Mov Disord (in press)

2010

Kieper N, Holmström K, Ciceri D, Fiesel F, Wolburg H, Ziviani E, Whitworth A, Martins LM, Kahle PJ, Krüger R. (2010) Modulation of mitochondrial function and morphology by interaction of Omi/HtrA2 with the mitochondrial fusion factor OPA1. Exp Cell Res 316: 1213-1224

Krebiehl G, Ruckerbauer S, Burbulla L, Kieper N, Maurer B, Waak J, Wolburg H, Gizatullina Z, Gellerich F, Woitalla D, Riess O, Kahle PJ, Proikas-Cezanne T, Krüger R. (2010) Reduced basal autophagy and impaired mitochondrial dynamics due to loss of Parkinson’s disease-associated protein DJ-1. PLoS One 5: e9367

Seidel K, Schöls L, Nuber S, Petrasch-Parwez E, Gierga K, Wszolek Z, Dickson D, Gai WP, Bornemann A, Riess O, Rami A, den Dunnen WFA, Deller T, Rüb U, Krüger R. (2010) First appraisal of brain pathology owing to A30P mutant alpha-synuclein. Ann Neurol 67: 684-689

Burbulla LF, Schelling C, Kato H, Rapaport D, Woitalla D, Schiesling C, Schulte C, Sharma M, Bauer P, Jung S, Nordheim A, Schöls L, Riess O, Krüger R. (2010) Dissecting the Role of the Mitochondrial Chaperone Mortalin in Parkinson’s Disease – Functional Impact of Disease-Related Variants on Mitochondrial Homeostasis. Hum Mol Genet (published online 16.09.2010; doi:10.1093/hmg/ddq370)

2009

Sharma M, Lichtner P,  Krüger R, Berg D, Schulte C,  Illig T, Riess O, Gasser T. (2009) Further delineation of the association signal on chromosome 5 from the first whole genome association study in Parkinson's disease. Neurobiol Aging 30: 1706-9

Evangelou E , Maraganore DM, Annesi G, Brighina L, Brice A, Elbaz A, Ferrarese C, Hadjigeorgiou GM, Krüger R, Lambert JC, Lesage S, Markopoulou K, Mellick GD, Meeus B, Pedersen NL, Quatrone A, Sharma M, Silburn PA, Tan EK, Van Broeckhoven C, Wirdefeldt K, Ioannidis JPA, for the Genetic Epidemiology of Parkinson’s disease (GEOPD) consortium. (2009) Non-replication of association for 6 polymorphisms from meta-analysis of genome-wide association studies of Parkinson’s disease: large-scale collaborative study. Am J Med Genet B Neuropsychiatr Genet (published online May 27th)

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. (2009) Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease. Neurogenetics (published online September 3rd)

Nuber S, Franck T, Wolburg H, Schumann U, Chanarat S, Teismann P, Schulz JB, Luft AR, Tomiuk J, Wilbertz J, Bornemann A, Krüger R,  Riess O. (2009) Overexpression of the alpha-synuclein interacting protein Synphilin-1 leads to behavioural and neuropathological alterations in transgenic mice. Neurogenetics (in press)

Simon-Sanchez J, Schulte C, Bras CM, Sharma M, Gibbs R, Berg D, Paison-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Krüger R, Fedoroff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Foote KD, Fernandez HH, Schreiber S, Arepalli S, Zonozi R, Gwinn K, 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. (2009) Genome-wide association study reveals genetic risk underlying Parkinson’s disease. Nat Genet (in press)

2008

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;115:941-58

Radke S, Chander H, Schäfer P, Meiss G, Krüger R, Schulz JB, Germain D. Mitochondrial protein quality control by the proteasome involves ubiquitination and the protease Omi. J Biol Chem 2008;283:12681-12685

Wahl C, Kautzmann S, Strauss KM, Lang M, Schiessling C, Woitalla D, Müller T, Berger K, Niewar M, 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

Kamm C, Fogel W, Wächter T, Schweitzer K, Berg D, Krüger R, Freudenstein D, Gasser T. Novel ATP1A3 mutation in a sporadic RDP patient with minimal benefit from deep brain stimulation. Neurology 2008;70:1501-1503

2007

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, Krüger R. The proteasomal subunit S6 ATPase is a novel synphilin-1 interacting protein – implications for Parkinson’s disease. FASEB J 2007;21:1759-1767  

Schweitzer KJ, Brüssel T, Leitner P, Krüger R, Bauer P, Gasser T, Berg D. Transcranial Ultrasound in different monogenetic subtypes of Parkinson’s Disease. J Neurol 2007;254:613-616

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

Exner N, Treske B, Paquet D, Schiesling C, Holmström K, Gispert S, Carballo-Carbajal I, Berg D, Gasser T, Krüger R, Winklhofer KF, Vogel F, Reichert AS, Auburger G, Schmid B, Kahle PJ, Haass C. Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin. J Neurosci 2007;27:12413-12418.

2006

Maraganore DM, de Andrade M,  Elbaz A, Farrer MJ, Ioannidis JP, Krüger R, Rocca WA, Schneider NK, Lesnick TG, Lincoln SJ, Hulihan MM, Aasly JO, Ashizawa T, Chartier-Harlin MC, Checkoway H, Ferrarese C, Hadjigeorgiou G, Hattori N, Kawakami H, Lambert JC, Lynch T, Mellick GD, Papapetropoulos S, Parsian A, Quattrone A, Riess O, Tan EK, Van Broeckhoven C, on behalf of the Genetic Epidemiology of Parkinson’s Disease (GEO-PD) Consortium. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson’s disease. JAMA 2006;296:661-670

Elbaz A, Nelson LM, Payami H, Ioannidis JPA, Fiske BK, Annesi G, Carmine A, Factor SA, Ferrarese C, Hadjigeorgiou GM, Higgins D, Kawakami H, Krüger R, Marder K, Mayeux R, Mellick G, Nutt J, Ritz B, Samii A, Tanner CA, Van Broeckhoven C, Van Den Eeden SK, Wirdefeldt K, Zabetian C, Dehem M, Montimurro JM, Myers RM, Southwick A, Trikalinos TA. Whole-genome association and Parkinson’s disease: a large-scale international replication study. Lancet Neurology 2006;5:917-923

Franck T, Krüger 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;113:1903-1908

2005

Hofer A, Berg D, Asmus F, Niwar M, Ransmayr G, Riemenschneider M, Bonelli SP, Steffelbauer M, Ceballos-Baumann A, Häusermann P, Behnke S, Krüger R, Prestel J, Sharma M, Zimprich A, Riess O and Gasser T. The role of a-synuclein gene multiplications in early-onset Parkinson´s disease and dementia with Lewy bodies. J Neural Transm  2005;14:2099-2111

Berg D, Niwar N, Maass S, Zimprich A, Moeller C, Wuellner U, Klein C, Tan E, Schoels L, Marsh L, Dawson T, Janetzky B, Dufke A, Bauer P, Krüger R, Gasser T, Riess O. Mutations in the alpha-synuclein gene and Parkinson’s disease – implications from the screening of more than 1900 patients. Mov Disord 2005;20:1191-1194

Strauss KM, Martins LM,  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 mutation in the gene encoding Omi/HtrA2 in Parkinson’s disease. Hum Mol Genet 2005;14:2099-2111

Hochstrasser H, Tomiuk J, Walter U, Behnke S, Spiegel J, Krüger R, Becker G, Riess O, Berg D.  Functional relevance of ceruloplasmin mutations in Parkinson´s disease. FASEB J 2005;19:1851-1853

2004

Maraganore DM, Lesnick TG, Elbaz A, Chartier-Harlin MC, Gasser T, Krüger R, Hattori N, Mellick GD, Quattrone A, Satoh JI, Toda T, Wang J, Ioannidis JPA, de Andrade M, Rocca WA, the UCHL1 Global Genetics Consortium. UCHL1 is a Parkinson’s disease susceptibility gene. Ann Neurol 2004;55: 512-521

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’s Disease. Neurology 2004;62:1231-1232

Glass A, 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 2004;68:21-28

Müller T, Przuntek H, Krüger R, Mackowiak A. Antiapoptotic effects of budipine. J Neural Transm 2004;111:1365-1373

Hering R, Strauss K, Tao X, Bauer A, Mietz EM, Petrovic S, Bauer P, Schaible W, Woitalla D, Müller T, Schöls L, Klein C, Berg D, Meyer PT, Schulz JB, Wollnik B, Tong L, Krüger R, Riess O. Novel E64D mutation in DJ-1 gene is causative of early onset Parkinson’s Disease. Hum Mutat 2004;24:321-329

2003

Marx FP, Holzmann C, Strauss KM, Li L, Eberhardt O, Gerhardt E, Cookson MR, Hernandez D, Farrer MJ, Kachergus J, Engelender S, Ross CA, Berger K, Schöls L, Schulz JB, Riess O, Krüger R. Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson’s disease. Hum Mol Gen 2003;12:1223-1231

Holzmann C, Krüger R, Saecker AM, Schmitt I, Schöls L, Berger K, Riess O. Polymorphisms of the alpha-synuclein promoter: expression analyses and association studies in Parkinson’s disease. J Neural Transm 2003;110:67-76

Kobayashi H, Krüger R, Markopoulou K, Wszolek Z, Chase B, Taka H, Mineki R, Murayama K, Riess O, Mizuno Y, Hattori N. Haploinsufficiency at the alpha-synuclein gene underlies phenotypic severity in familial Parkinson’s disease. Brain 2003;126:32-42

Schulte T, Böhringer S, Schöls L, Müller T, Fischer C, Riess O, Przuntek H, Berger K, Epplen JT, Krüger R. Modulation of disease risk according to a cathepsin D / apolipoprotein E genotype in Parkinson’s disease. J Neural Transm 2003;110:749-755

Krüger R, Fischer C, Schulte T, Strauss K, Müller T, Woitalla D, Berg D, Hungs M, Gobbele R, Berger K, Epplen JT, Riess O, Schöls L. Mutations in the neurofilament M gene in Parkinson’s disease. Neurosci Lett 2003;351:125-129

2002

Schulte T, Schöls L, Müller T, Woitalla D, Berger K, Krüger R. Polymorphisms in the interleukin-1 alpha and beta genes and the risk for Parkinson’s disease. Neurosci Lett  2002;236:70-72

Rahner N, Holzmann C, Krüger R, Schöls L, Berger K, Riess O. Mutation analysis and association studies of neurofilament L in Parkinson’s disease. Brain Res 2002;951:82-87

Wintermeyer P, Riess O, Schöls L, Przuntek H, Miterski B, Epplen JT, Krüger R. Mutation analysis and association studies of nuclear factor-kappaB1 in German Parkinson‘s disease patients. J Neural Transm 2002;109:1181-1188

Ubl A, Berg D, Holzmann C, Krüger R, Berger K, Arzberger T, Bornemann A, Riess O. 14-3-3 is a component of Lewy bodies in Parkinson’s disease - mutation analysis and association studies of 14-3-3 eta. Brain Res Mol Brain Res 2002;108:33-39

2001

Krüger R, Kuhn W, Leenders KL, Sprengelmeyer R, Müller T, Woitalla D, Portman AT, Maguire RP, Veenma L, Schröder U, Schöls L, Epplen JT, Riess O, Przuntek H. Familial parkinsonism with synuclein pathology – clinical and PET studies of Ala30Pro mutation carriers. Neurology 2001;56:1355-1362

Krüger R, Schöls L, Müller T, Kuhn W, Woitalla D, Przuntek H, Epplen JT, Riess O. Evaluation of the alpha-synuclein gene in German Parkinson’s disease patients. Neurosci Lett 2001;310:191-193

2000

Krüger R, Menezes-Saecker AM, Schöls L, Kuhn W, Müller T, Woitalla D, Berg D, Berger K, Przuntek H, Epplen JT, Riess O. Genetic analysis of the alpha2-macroglobulin gene in early- and late-onset Parkinson’s disease. NeuroReport 2000;11:2439-2442

Krüger R, Hardt C, Tschentscher F, Jäckel S, Kuhn W, Müller T, Werner J, Woitalla D, Berg D, Kühnl N, Fuchs GA, Santos EJ, Przuntek H, Epplen JT, Schöls L, Riess O. Genetic analysis of immunomodulating factors in sporadic Parkinson’s disease. J Neural Transm 2000;107:553-562

Miterski B, Krüger R, Wintermeyer P, Epplen JT. PCR/SSCP detects reliably and efficiently DNA sequence variations in large scale screening projects. Comb Chem High Throughput Screening 2000;3:211-218

Wintermeyer P, Krüger R, Kuhn W, Müller T, Woitalla D, Berg D, Becker G, Leroy E, Polymeropoulos M, Berger K, Przuntek H, Schöls L, Epplen JT, Riess O. Mutation analysis and association studies of the UCHL1 gene in German Parkinson’s disease patients. NeuroReport 2000;11:2079-2082

Schöls L, Peters S, Szymanski S, Krüger R, Lange S, Hardt C, Riess O, Przuntek H. Extrapyramidal motor signs in degenerative ataxias. Arch Neurol 2000;57:1495-1500

1999

Krüger R, Vieira-Saecker AMM, Kuhn W, Berg D, Müller T, Kühnl N, Fuchs GA, Storch A, Hungs M, Woitalla D, Przuntek H, Epplen JT, Schöls L, Riess O. Increased susceptibility to sporadic Parkinson’s disease by a certain combined alpha-synuclein/apolipoprotein E genotype. Ann Neurol 1999;45:611-617

Krüger R, Vieira-Säcker AMM, Kuhn W, Müller T, Woitalla D, Schöls L, Przuntek H, Epplen JT, Riess O. Analysis of the parkin deletion in sporadic and familial Parkinson’s disease. J Neural Transm 1999;106:159-163

Grasbon-Frodl EM, Egensperger R, Kösel S, Krüger R, Riess O, Mehrain P, Graeber MB. The alpha-antichymotrypsin A-allele in German Parkinson disease patients. J Neural Transm 1999;106:729-736

1998

Krüger R, Kuhn W, Müller T, Woitalla D, Graeber M, Kösel S, Przuntek H, Epplen JT, Schöls L, Riess O. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson’s disease. Nat Genet 1998;18:106-108

Schöls L, Krüger R, Amoiridis G, Przuntek H, Epplen JT, Riess O. Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. J Neurol Neurosurg Psychiatry 1998;64:67-73

Original Articles

Imam, S. Z., Zhou, Q., Yamamoto, A., Valente, A. J., Ali, S. F., Bains, M., Roberts, J. L., Kahle, P. J., Clark, R. A., and Li, S. (2011) Novel regulation of parkin function through c-Abl-mediated tyrosine phosphorylation: implications for Parkinson's disease. J. Neurosci. 31, 157-163

Ünal-Çevik, I., Gürsoy-Özdemir, Y., Yemişçi, M., Lüle, S., Gurer, G., Can A., Müller, V., Kahle, P. J., and Dalkara, T. (2011) Alpha-synuclein aggregation induced by brief ischemia negatively impacts neuronal survival in vivo: a study in [A30P]alpha-synuclein transgenic mouse. J. Cereb. Blood Flow Metab. 31, 913-923

Geisler, S., Holmström, K. M., Treis, A., Skujat, D., Weber, S. S., Fiesel, F. C., Kahle, P. J., and Springer, W. (2010) The PINK1/parkin-mediated mitophagy is compromised by PD-associated mutations. Autophagy 6, 871-878

Voigt, A., Herholz, D., Fiesel, F. C., Kaur, K., Müller, D., Karsten, P., Weber, S. S., Kahle, P. J., Marquardt, T., and Schulz, J. B. (2010) TDP-43-mediated neuron loss in vivo requires RNA-binding activity. PLoS One 5, e12247

Siebert, H., Kahle, P. J.,Kramer, M. L., Isik, T., Schlüter, O. M., Schulz-Schaeffer, W. J., and Brück, W. (2010) Overexpression of α-synuclein in the nervous system enhances axonal degeneration after peripheral nerve lesion in a transgenic mouse strain. J. Neurochem. 114, 1007-1018

Cornejo Castro, E. M., Waak, J.,Weber, S. S., Fiesel, F. C., Oberhettinger, P., Schütz, M., Autenrieth, I. B., Springer, W., and Kahle, P. J. (2010) Parkinson's disease-associated DJ-1 modulates innate immunity signaling in Caenorhabditis elegans. J. Neural Transm. 117, 599-604

Pham, T. T., Giesert, F., Röthig, A., Floss, T., Kallnik, M., Weindl, K., Hölter, S. M., Ahting, U., Prokisch, H., Becker, L., Klopstock, T., Beyer, K., Görner, K., Kahle, P. J., Vogt-Weisenhorn, D. M., and Wurst, W. (2010) DJ-1 deficient mice show less TH positive neurons in the ventral tegmental area and exhibit non-motoric behavioural impairments. Genes Brain Behav. 9, 305-317

Carballo-Carbajal, I., Weber-Endress, S., Rovelli, G., Chan, D., Wolozin, B., Klein, C. L., Patenge, N., Gasser, T., and Kahle, P. J. (2010) Leucine-rich repreat kinase 2 induces α-synuclein expression via the extracellular signal-regulated kinase pathway. Cell. Signal. 22, 821-827

Kieper, N., Holmström, K. M., Ciceri, D., Fiesel, F. C., Wolburg, H., Martins, L. M., Kahle, P. J., and Krüger, R. (2010) Modulation of mitochondrial function and morphology by interaction of Omi/HtrA2 with the fusion protein OPA1. Exp. Cell Res. 316, 1213-1224

Krebiehl, G., Ruckerbauer, S., Burbulla, L. F., Kieper, N., Maurer, B., Waak, J., Wolburg, H., Gizatullina, Z., Gellerich, F. N., Woitalla, D., Riess, O., Kahle, P. J., Proikas-Cezanne, T., and Krüger, R. (2010) Reduced basal autophagy and impaired mitochondrial dynamics due to loss of Parkinson's disease-associated protein DJ-1. PLoS ONE 5, e9367

Geisler, S., Holmström, K. M., Skujat, D., Fiesel, F. C., Rothfuss, O. C., Kahle, P. J., and Springer, W. (2010). PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1. Nat. Cell Biol. 12, 119-131

Mbefo, M. K., Paleologou, K. E., Boucharaba, A., Oueslati, A., Schell, H., Fournier, M., Olschewski, D., Yin, G., Zweckstetter, M., Masliah, E., Kahle, P. J., Hirling, H., and Lashuel, H. A. (2010) Phosphorylation of synucleins by members of the polo-like kinase family. J. Biol. Chem. 285, 2807-2822

Fiesel, F. C., Voigt, A., Weber, S. S., Van den Heute, C., Waldenmaier, A., Görner, K., Walter, M., Anderson, M. L., Kern, J. V., Rasse, T. M., Schmidt, T., Springer, W., Kirchner, R., Bonin, M., Neumann, M., Baekelandt, V., Alunni-Fabbroni, M., Schulz, J. B., and Kahle, P. J. (2010) Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6. EMBO J. 29, 209-221

Wilms, H., Rosenstiel, P., Romero-Ramos, M., Arlt, A., Schäfer, H., Seegert, D., Kahle, P. J., Odoy, S., Claasen, J. H., Holzknecht, C., Brandenburg, L. O., Deuschl, G., Schreiber, S., Kirik, D., and Lucius, R. (2009) Suppression of MAP kinases inhibits microglial activation and attenuate neuronal cell death induced by a-synuclein protofibrils. Int. J. Immunopathol. Pharmacol. 22, 897-909

Klein, C. L., Rovelli, G., Springer, W., Schall, C., Gasser, T., and Kahle, P. J. (2009) Homo- and heterodimerization of ROCO kinases: LRRK2 kinase inhibition by the LRRK2 ROCO fragment. J. Neurochem. 111, 703-715

Fournier, M., Vitte, J., Garrigue, J., Langui, D., Dullin, J.-P., Saurini, F., Hanoun, N., Perez-Diaz, F., Cornilleau, F., Joubert, C., Ardila-Osorio, H., Traver, S., Duchateau, R., Goujet-Zalc, C., Paleologou, K., Lashuel, H. A., Haass, C., Duyckaerts, C., Cohen-Salmon, C., Kahle, P. J., Hamon, M., Brice, A., and Corti, O. (2009) Parkin deficiency delays motor decline and disease manifestation in a mouse model of synucleinopathy. PLoS ONE 4, e6629

Waak, J., Weber, S. S., Waldenmaier, A., Görner, K., Alunni-Fabbroni, M., Schell, H., Vogt-Weisenhorn, D., Pham, T.-T., Reumers, V., Baekelandt, V., Wurst, W., and Kahle, P. J. (2009) Regulation of astrocyte inflammatory responses by the Parkinson's disease-associated gene DJ-1. FASEB J. 23, 2478-2489

Schell, H., Hasegawa, T., Neumann, M., and Kahle, P. J. (2009) Nuclear and neuritic distribution of serine-129 phosphorylated a-synuclein in transgenic mice. Neuroscience 160, 796-804

Waak, J., Weber, S. S., Görner, K., Schall, C., Ichijo, H., Stehle, T., and Kahle, P. J. (2009) Oxidizable residues mediating protein stability and cytoprotective interaction of DJ-1 with apoptosis signal-regulating kinase-1. J. Biol. Chem. 284, 14245-14257

Koch, A., Lehmann-Horn, K., Dächsel, J. C., Gasser, T., Kahle, P. J., and Lücking, C. B. (2009) Proteasomal inhibition reduces parkin mRNA in PC12 and SH-SY5Y cells. Parkinsonism Relat. Disord. 15, 220-225

Hasegawa, T., Treis, A., Patenge, N., Fiesel, F. C., Springer, W., and Kahle, P. J. (2008). Parkin protects against tyrosinase-mediated dopamine neurotoxicity by suppressing stress-activated protein kinase pathways. J. Neurochem. 105, 1700-1715

Stefanova, N., Reindl, M., Neumann, M., Kahle, P. J., Poewe, W., and Wenning, G. K. (2007) Microglial activation mediates neurodegeneration related to oligodendroglial α-synucleinopathy: Implications for multiple system atrophy. Mov Disord. 22, 2196-2203

Exner, N., Treske, B., Paquet, D., Holmström, K., Schiesling, C., Gispert, S., Carballo-Carbajal, I., Berg, D., Gasser, T., Krüger, R., Winklhofer, K. F., Vogel, F., Reichert, A. S., Auburger, G., Kahle, P. J., Schmid, B., and Haass, C. (2007) Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin. J. Neurosci. 27, 12413-12418

Görner, K., Holtorf, E., Waak, J., Pham, T.-T., Vogt-Weisenhorn, D. M., Wurst, W., Haass, C., and Kahle, P. J. (2007) Structural determinants of the C-terminal helix-kink-helix motif essential for protein stability and survival-promoting activity of DJ-1. J. Biol. Chem. 282, 13680-13691

Freichel, C., Neumann, M., Ballard, T., Müller, V., Woolley, M., Ozmen, L., Borroni, E., Kretzschmar, H. A., Haass, C., Spooren, W., and Kahle, P. J. (2007) Age-dependent cognitive decline and amygdala pathology in α-synuclein transgenic mice. Neurobiol. Aging 28, 1421-1435

Gerard, M., Debyser, Z., Desender, L., Kahle, P. J., Baert, J., Baekelandt, V., and Engelborghs, Y. (2006) The aggregation of α-synuclein is stimulated by FK506 binding proteins as shown by Fluorescence Correlation Spectroscopy. FASEB J. 20, 524-526

Springer, W., Hoppe, T., Schmidt, E., Baumeister, R. (2005) A Caenorhabditis elegans parkin mutant with altered solubility couples α-synuclein aggregation to proteotoxic stress. Hum. Mol. Genet. 14, 3407-3423

Giese, A., Bader, B., Bieschke, J., Schaffar, G., Odoy, S., Kahle, P. J., Haass, C., and Kretzschmar, H. A. (2005) Single particle detection and characterization of synuclein co-aggregation. Biochem. Biophys. Res. Commun. 333, 1202-1210

Dächsel, J. C., Lücking, C. B., Deeg, S., Schultz, E., Lalowski, M., Casademunt, E., Corti, O., Hampe, C., Patenge, N., Vaupel, K., Yamamoto, A., Dichgans, M., Brice, A., Wanker, E. E., Kahle, P. J., and Gasser, T. (2005) Parkin interacts with the proteasome subunit a4. FEBS Lett. 579, 3913-3919

Frasier, M., Walzer, M., McCarthy, L., Magnuson, D., Lee, J. M., Haass, C., Kahle, P. J., and Wolozin, B. (2005) Tau phosphorylation increases in symptomatic mice overexpressing [A30P]α-synuclein. Exp. Neurol. 192, 274-287

Stefanova, N., Reindl, M., Neumann, M., Haass, C., Poewe, W., Kahle, P. J., and Wenning, G. K. (2005) Oxidative stress in transgenic mice with oligodendroglial α-synuclein overexpression replicates the characteristic neuropathology of multiple system atrophy. Am. J. Pathol. 166, 869-876

Yamamoto, A., Imai, Y., Takahashi, R., Kahle, P. J., and Haass, C. (2005) Parkin phosphorylation and modulation of its E3 ubiquitin ligase activity. J. Biol. Chem. 280, 3390-3399

Neumann, M., Müller, V., Kretzschmar, H. A., Haass, C., and Kahle, P. J. (2004) Regional distribution of proteinase K-resistant α-synuclein correlates with Lewy body disease stage. J. Neuropathol. Exp. Neurol. 63, 1225–1235

Hoppe, T., Cassata, G., Barral, J. M., Springer, W., Hutagalung, A. H., Epstein, H. F., and Baumeister, R. (2004) Regulation of the myosin-directed chaperone UNC-45 by a novel E3/E4-multiubiquitylation complex in C. elegans. Cell 118, 337-349

Nuscher, B., Kamp, F., Mehnert, T., Odoy, S., Haass, C., Kahle, P. J., and Beyer, K. (2004) α-Synuclein has a high affinity for packing defects in a bilayer membrane: a thermodynamics study. J. Biol. Chem. 279, 21966-21975

Neumann, M., Müller, V., Görner, K., Kretzschmar, H. A., Haass, C., and Kahle, P. J. (2004) Pathological properties of the Parkinson’s disease-associated protein DJ-1 in α-synucleinopathies and tauopathies: relevance for multiple system atrophy and Pick’s disease. Acta Neuropathol. 107, 489-496

Görner, K., Holtorf, E., Odoy, S., Nuscher, B., Yamamoto, A., Regula, J. T., Beyer, K., Haass, C., Kahle, P. J. (2004) Differential effects of Parkinson’s disease-associated mutations on stability and folding of DJ-1. J. Biol. Chem. 279, 6943-6951

Neumann, M., Kahle, P. J., Giasson, B. I., Ozmen, L., Borroni, E., Spooren, W., Müller, V., Odoy, S., Fujiwara, H., Hasegawa, M., Iwatsubo, T., Trojanowski, J. Q., Kretzschmar, H. A., and Haass, C. (2002) Misfolded proteinase K-resistant and hyperphosphorylated α-synuclein in aged transgenic mice and in Lewy body disease patients. J. Clin. Invest. 110, 1429-1439

Kahle, P. J., Neumann, M., Ozmen, L., Müller, V., Jacobsen, H., Spooren, W., Fuss, B., Mallon, B., Macklin, W. B., Fujiwara, H., Hasegawa, M., Iwatsubo, T., Kretzschmar, H. A., and Haass, C. (2002) Hyperphosphorylation and insolubility of α-synuclein in transgenic mouse oligodendrocytes. EMBO Rep. 3, 583-588

Kahle, P. J., Neumann, M., Ozmen, L., Müller, V., Odoy, S., Okamoto, N., Jacobsen, H., Iwatsubo, T., Trojanowski, J. Q., Takahashi, H., Wakabayashi, K., Bogdanovic, N., Riederer, P., Kretzschmar, H. A., and Haass, C. (2001) Selective insolubility of α-synuclein in human Lewy body diseases is recapitulated in a transgenic mouse model. Am. J. Pathol. 159, 2215-2225

Rathke-Hartlieb, S., Kahle, P. J., Neumann, M., Ozmen, L., Haid, S., Okochi, M., Haass, C., Schulz, J. B. (2001) Sensitivity to MPTP is not increased in Parkinson’s disease-associated mutant α-synuclein transgenic mice. J. Neurochem. 77, 1181-1184

Wirths, O., Weickert, S., Majtenyi, K., Havas, L., Okochi, M., Kahle, P. J., Haass, C., Multhaup, G., Beyreuther, K., and Bayer, T. A. (2000) Lewy body variant of Alzheimer’s disease: α-synuclein in dystrophic neurites of Ab plaques. NeuroReport 11, 3737-3741

Kahle, P. J., Neumann, M., Ozmen, L., Müller, V., Jacobsen, H., Schindzielorz, A., Okochi, M., Leimer, U., van der Putten, H., Probst, A., Kremmer, E., Kretzschmar, H. A., and Haass, C. (2000) Subcellular localization of wild-type and Parkinson’s disease-associated mutant α-synuclein in human and transgenic mouse brain. J. Neurosci. 20, 6365-6373

Hampel, H., Bürger, K., Teipel, S. J., Padberg, F., Kohnken, R., Zinkowski, R., Kahle, P., Rapoport, S. I., Sunderland, T., Davies, P., and Möller, H.-J. (2000) CSF total and phosphorylated tau in Alzheimer’s disease: Perspectives for early detection, differential diagnosis and mapping of disease progression. J. Lab. Med. 24, 559

Kahle, P. J., Jakowec, M., Teipel, S. J., Hampel, H., Petzinger, G. M., Di Monte, D. A., Silverberg, G. D., Möller, H.-J., Yesavage, J. A., Tinklenberg, J. R., Shooter, E. M., and Murphy, G. M., Jr. (2000) Combined assessment of tau and neuronal thread protein in Alzheimer disease cerebrospinal fluid. Neurology 54, 1498-1504

Okochi, M., Walter, J., Koyama, A., Nakajo, S., Baba, M., Iwatsubo, T., Meijer, L., Kahle, P. J., and Haass, C. (2000) Constitutive phosphorylation of the Parkinson’s disease associated α-synuclein. J. Biol. Chem. 275, 390-397

Kahle, P. J., Shooter, E. M., Johnson, R. M., and Verity, A. N. (1998) Phosphatidylcholine-specific phospholipase inhibitor D609 differentially affects MAP kinases and immediate-early genes in PC12 cells. Cell. Signal. 10, 321-330

Horstmann, S., Kahle, P. J., and Borasio, G. D. (1998) Inhibitors of p38 mitogen-activated protein kinase promote neuronal survival in vitro. J. Neurosci. Res. 52, 483-490

Maas, J. W., Jr., Horstmann, S., Borasio, G. D., Anneser, J. M. H., Shooter, E. M., and Kahle, P. J. (1998) Apoptosis of central and peripheral neurons can be prevented with cyclin-dependent kinase / mitogen-activated protein kinase inhibitors. J. Neurochem. 70, 1401-1410

Krüttgen, A., Heymach, J. V., Jr., Kahle, P. J., and Shooter, E. M. (1997) The role of the nerve growth factor carboxyl terminus in receptor binding and conformational stability. J. Biol. Chem. 272, 29222-29228

Markus, M. A., Kahle, P. J., Winkler, A., Horstmann, S., Anneser, J. M. H., and Borasio, G. D. (1997) Survival-promoting activity of inhibitors of cyclin-dependent kinases on primary neurons correlates with inhibition of c-Jun kinase-1. Neurobiol. Dis. 4, 122-133

Kahle, P., Barker, P. A., Shooter, E. M., and Hertel, C. (1994) p75 nerve growth factor receptor modulates p140trkA kinase activity, but not ligand internalization, in PC12 cells. J. Neurosci. Res. 38, 599-606

Kahle, P., Mangold, M., Kuwahara, T., Schubenel, R., and Hertel, C. (1994) Protein kinase inhibitor H-7 differentially affects early and delayed nerve growth factor responses in PC12 cells. J. Neurochem. 62, 479-488

Kahle, P., Burton, L. E., Schmelzer, C. H., and Hertel, C. (1992) The amino terminus of nerve growth factor is involved in the interaction with the receptor tyrosine kinase p140trkA. J. Biol. Chem. 267, 22707-22710

Kahle, P., and Hertel, C. (1992) Nerve growth factor (NGF) receptor on rat glial cell lines. Evidence for NGF internalization via p75NGFR. J. Biol. Chem. 267, 13917-13923

Reviews and Commentaries

Fiesel, F. C., and Kahle, P. J. (2011) TDP-43 and FUS/TLS: role in the pathophysiology of neurodegeneration processes. FEBS J. 278, 3550-3568

Springer, W., and Kahle, P. J. (2011) Regulation of PINK1-parkin-mediated mitophagy. Autophagy 7, 266-278

Kahle, P. J., Waak, J., and Gasser, T. (2009) DJ-1 and prevention of oxidative stress in Parkinson's disease and other age-related disorders. Free Radic. Biol. Med. 47, 1354-1361

Kahle, P. J. (2008) α-synucleinopathy models and human neuropathology: similarities and differences. Acta Neuropathol. 115, 87-95

Springer, W., and Kahle, P. J. (2006) Mechanisms and models of α-synuclein-related neurodegeneration. Curr. Neurol. Neurosci. Rep. 6, 432-436

Fillon, G., and Kahle, P. J. (2005) α-Synuclein transgenic mice: relevance to multiple system atrophy. Mov. Disord. 20, S64-S66

Kahle, P. J., and Haass, C. (2004) How does parkin ligate ubiquitin to Parkinson’s disease? EMBO Rep. 5, 681-685 Kahle, P. J., and De Strooper, B. (2003) Attack on amyloid. EMBO Rep. 4, 747-751

Kahle, P. J., Haass, C., Kretzschmar, H. A., and Neumann, M. (2002) Structure / function of α-synuclein in health and disease: rational development of animal models for Parkinson’s and related diseases. J. Neurochem. 82, 449-457

Haass, C., and Kahle, P. J. (2001) Parkin and its substrates. Science 293, 224-225 Kahle, P. J., and Haass, C. (2001) The emerging utility of animal models of chronic neurodegenerative diseases. Emerging Therapeutic Targets 5, 125-132

Kahle, P. J., Neumann, M., Ozmen, L., and Haass, C. (2000) Physiology and pathophysiology of α-synuclein: cell culture and transgenic animal models based on a Parkinson’s disease-associated protein. Ann. NY Acad. Sci. 920, 33-41

Kahle, P. J., Leimer, U., and Haass, C. (2000) Does failure of parkin-mediated ubiquitination cause juvenile parkinsonism? Trends Biochem. Sci. 25, 524-527

Haass, C., and Kahle, P. J. (2000) Parkinson’s pathology in a fly. Nature 404, 341-343 Waggie, K. S., Kahle, P. J., and Tolwani, R. J. (1999) Neurons and mechanisms of neuronal death in neurodegenerative diseases: a brief review. Lab. Anim. Sci. 49, 358-362

2009

Original Articles

Asmus F, Langseth A, Doherty E, Nestor T, Munz M, Gasser T, Lynch T, King MD (2009) "Jerky" dystonia in children: spectrum of phenotypes and genetic testing. Mov Disord. 2009 Apr 15;24(5):702-9.

Asmus F, von Coelln R, Boertlein A, Gasser T, Mueller J. (2009) Reverse sensory geste in cervical dystonia. Mov Disord. 2009 Jan 30;24(2):297-300.

Bauer M, Kinkl N, Meixner A, Kremmer E, Riemenschneider M, Förstl H, Gasser T, Ueffing M. (2009) Prevention of interferon-stimulated gene expression using microRNA-designed hairpins. Gene Ther. 2009 Jan;16(1):142-7.

Bensimon G, Ludolph A, Agid Y, Vidailhet M, Payan C, Leigh PN; NNIPPS Study Group. (2009) Riluzole treatment, survival and diagnostic criteria in Parkinson plus disorders: the NNIPPS study. Brain. 2009 Jan;132(Pt 1):156-71.

Breit S, Wächter T, Schöls S, Gasser T, Nägele T, Freudenstein D, Krüger R. (2009) Effective thalamic deep brain stimulation for neuropathic tremor in a patient with severe demyelinating neuropathy. J Neurol Neurosurg Psychiatry. J Neurol Neurosurg Psychiatry 80: 235-36.

Djarmati A, Hagenah J, Reetz K, Winkler S, Behrens MI, Pawlack H, Lohmann K, Ramirez A, Tadić V, Brüggemann N, Berg D, Siebner HR, Lang AE, Pramstaller PP, Binkofski F, Kostić VS, Volkmann J, Gasser T, Klein C. (2009) ATP13A2 variants in early-onset Parkinson's disease patients and controls. Mov Disord. 2009 Aug 24.

Evangelou E , Maraganore DM, Annesi G, Brighina L, Brice A, Elbaz A, Ferrarese C, Hadjigeorgiou GM, Krüger R, Lambert JC, Lesage S, Markopoulou K, Mellick GD, Meeus B, Pedersen NL, Quatrone A, Sharma M, Silburn PA, Tan EK, Van Broeckhoven C, Wirdefeldt K, Ioannidis JPA, for the Genetic Epidemiology of Parkinson’s disease (GEOPD) consortium. (2009) Non-replication of association for 6 polymorphisms from meta-analysis of genome-wide association studies of Parkinson’s disease: large-scale collaborative study. Am J Med Genet B Neuropsychiatr Genet.

Fernández-Santiago R, Sharma M, Berg D, Illig T, Anneser J, Meyer T, Ludolph A, Gasser T. No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort.
Neurobiol Aging. 2009 May 21.

Fernández-Santiago R, Hoenig S, Lichtner P, Sperfeld AD, Sharma M, Berg D, Weichenrieder O, Illig T, Eger K, Meyer T, Anneser J, Münch C, Zierz S, Gasser T, Ludolph A. (2009) Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis. J Neurol. 2009 Aug;256(8):1337-42.

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

Golub Y, Berg D, Calne DB, Pfeiffer RF, Uitti RJ, Stoessl AJ, Wszolek ZK, Farrer MJ, Mueller JC, Gasser T, Fuchs J. (2009) Genetic factors influencing age at onset in LRRK2-linked Parkinson disease. Parkinsonism Relat Disord. 2009 Aug;15(7):539-41.

Hampel H, Ewers M, Bürger K, Annas P, Mörtberg A, Bogstedt A, Frölich L, Schröder J, Schönknecht P, Riepe MW, Kraft I, Gasser T, Leyhe T, Möller HJ, Kurz A, Basun H. (2009) Lithium trial in Alzheimer's disease: a randomized, single-blind, placebo-controlled, multicenter 10-week study. J Clin Psychiatry. 2009 Jun;70(6):922-31.

Kahle PJ, Waak J, Gasser T. (2009) DJ-1 and prevention of oxidative stress in Parkinson's disease and other age-related disorders. Free Radic Biol Med. 2009 Aug 14.

Klein CL, Rovelli G, Springer W, Schall C, Gasser T, Kahle PJ. (2009) Homo- and heterodimerization of ROCO kinases: LRRK2 kinase inhibition by the LRRK2 ROCO fragment. J Neurochem. 2009 Aug 27.

Koch A, Lehmann-Horn K, Dächsel JC, Gasser T, Kahle PJ, Lücking CB. (2009) Proteasomal inhibition reduces parkin mRNA in PC12 and SH-SY5Y cells. Parkinsonism Relat Disord. 2009 Mar;15(3):220-5.

Leyhe T, Eschweiler GW, Stransky E, Gasser T, Annas P, Basun H, Laske C. (2009) Increase of BDNF serum concentration in lithium treated patients with early Alzheimer's disease. J Alzheimers Dis. 2009 Mar;16(3):649-56.

Madžar D, Schulte C, Gasser T. (2009) Screening for LRRK2 R1441 mutations in a cohort of PSP patients from Germany. Eur J Neurol. 2009 Jun 15.

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

Maetzler W, Michelis J, Tomiuk J, Melms A, Becker C, Gasser T, Schulte C, Berg D. (2009) 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.

Maetzler W, Liepelt I, Reimold M, Reischl G, Solbach C, Becker C, Schulte C, Leyhe T, Keller S, Melms A, Gasser T, Berg D. (2009) Cortical PIB binding in Lewy body disease is associated with Alzheimer-like characteristics. Neurobiol Dis. 2009 Apr;34(1):107-12.

Olanow CW, Rascol O, Hauser R, Feigin PD, Jankovic J, Lang A, Langston W, Melamed E, Poewe W, Stocchi F, Tolosa E; ADAGIO Study Investigators. (2009) A double-blind, delayed-start trial of rasagiline in Parkinson's disease. N Engl J Med. 2009 Sep 24;361(13):1268-78.

Robottom BJ, Weiner WJ, Asmus F, Huber H, Gasser T, Schöls S. (2009) Kick and rush: paradoxical kinesia in Parkinson disease. Neurology. 2009 Jul 28;73(4):328; author reply 328-9.

Rothfuss O, Fischer H, Hasegawa T, Maisel M, Leitner P, Miesel F, Sharma M, Bornemann A, Berg D, Gasser T, Patenge N. (2009) Parkin protects mitochondrial genome integrity and supports mitochondrial DNA repair. Hum Mol Genet. 2009 Oct 15;18(20):3832-50.

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, Wüllner U, Goldwurm S, Pellecchia MT, Illig T, Riess O, Fernandez HH, Rodriguez RL, Okun MS, Poewe W, Wenning GK, Hardy JA, Singleton AB, Gasser T. (2009) SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol. 2009 May;65(5):610-4.

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

Sharma M, Lichtner P,  Krüger R, Berg D, Schulte C,  Illig T, Riess O, Gasser T. (2009) Further delineation of the association signal on chromosome 5 from the first whole genome association study in Parkinson's disease. Neurobiol Aging 30: 1706-9.

Sidransky E, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen C-M, Clark LN, Condroyer C, de Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer M, Fung H-C, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen G-J, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nalls MA, 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 S, Spitz M, TanE-K, Tayebi N, Toda T, Troiano A, Tsuji S, Wittstock M, Wolfsberg TG, Wu Y-R, Zabetian CP, Zhao Y, Ziegler SG (2009) International multi-center analysis of glucocerebrosidase mutations in Parkinson disease. New Engl J Med.

Simon-Sanchez J, Schulte C, Bras CM, Sharma M, Gibbs R, Berg D, Paison-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Krüger R, Fedoroff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Foote KD,  Fernandez HH, Schreiber S, Arepalli S, Zonozi R, Gwinn K, 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.  (2009) Genome-wide association study reveals genetic risk underlying Parkinson’s disease. Nat Genet.

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, da Costa CA, Riess O. (2009)  Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease. Neurogenetics. 2009 Sep 3.

Wächter T, Weiss D, Breit S, Gasser T, Krüger R, Gharabaghi A. (2009) Severe muscular fasciculations as an uncommon side-effect due to microdefect of an extension wire in deep brain stimulation. Mov Disord. 2009 Aug 24.

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, Brücke T, Auff E, Gasser T. (2009) PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease. Parkinsonism Relat Disord. 2009 Aug;15(7):532-4.

Reviews

Harbo HF, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls S, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen C, Zeviani M, Burgunder JM, Gasser T; EFNS. (2009) EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias. Eur J Neurol. 2009 Jul;16(7):777-85.

Ludolph AC, Kassubek J, Landwehrmeyer BG, Mandelkow E, Mandelkow EM, Burn DJ, Caparros-Lefebvre D, Frey KA, de Yebenes JG, Gasser T, Heutink P, Höglinger G, Jamrozik Z, Jellinger KA, Kazantsev A, Kretzschmar H, Lang AE, Litvan I, Lucas JJ, McGeer PL, Melquist S, Oertel W, Otto M, Paviour D, Reum T, Saint-Raymond A, Steele JC, Tolnay M, Tumani H, van Swieten JC, Vanier MT, Vonsattel JP, Wagner S, Wszolek ZK; Reisensburg Working Group for Tauopathies With Parkinsonism. (2009) Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options. Eur J Neurol. 2009 Mar;16(3):297-309.

Gasser T. (2009) Genomic and proteomic biomarkers for Parkinson disease. Neurology. 2009 Feb 17;72(7 Suppl):S27-31.

Gasser T. (2009) Mendelian forms of Parkinson's disease. Biochim Biophys Acta. 2009 Jul;1792(7):587-96.

Gasser T. (2009) Molecular pathogenesis of Parkinson disease: insights from genetic studies. Expert Rev Mol Med. 2009 Jul 27;11
Schulz JB, Boesch S, Bürk K, Dürr A, Giunti P, Mariotti C, Pousset F, Schöls S, Vankan P, Pandolfo M. (2009) Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol. 2009 Apr;5(4):222-34.


2008

Original Articles

Asmus F, Huber H, Gasser T, Schöls S (2008) Kick and rush: paradoxical kinesia in Parkinson disease. Neurology 71(9):695

Bach J, Sommer N, Möller JC, Oertel WH, Dodel R, Gasser T (2008) Parkinson’s syndrome in a young patient with Klinefelter’s syndrome--a case report. Movement Disorders 23(5):771-2

Bauer M, Szulc J, Meyer M, Jensen CH, Terki TA, Meixner A, Kinkl N, Gasser T, Aebischer P, Ueffing M (2008) Delta-like 1 participates in the specification of ventral midbrain progenitor derived dopaminergic neurons. Journal of Neurochemistry 104(4):1101-15

Breit S, Martin A, Lessmann L, Cerkez D, Gasser T, Schulz JB (2008) Bilateral changes in neuronal activity of the basal ganglia in the unilateral 6-hydroxydopamine rat model. Journal of Neuroscience Research 86(6):1388-96

Breit S, Spieker S, Schulz JB, Gasser T (2008) Long-term EMG recordings differentiate between parkinsonian and essential tremor. Journal of Neurology 255(1):103-11

Fuchs J, Tichopad A, Golub Y, Munz M, Schweitzer KJ, Wolf B, Berg D, Mueller JC, Gasser T (2008) Genetic variability in the SNCA gene influences alpha-synuclein levels in the blood and brain. The FASEB Journal 22(5):1327-34

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

Gasser T (2008) Hunting for genes and mutations: it’s worth remembering the basics. Neurology 70(16 Pt 2):1373-4

Godau J, Wevers A, Gaenslen A, Di Santo A, Liepelt I, Gasser T, Berg D (2008) Sonographic abnormalities of brainstem structures in restless legs syndrome. Sleep Medicine 9(7):782-9

Haugarvoll K, Rademakers R, Kachergus JM, Nuytemans K, Ross OA, Gibson JM, Tan E, Gaig C, Tolosa E, Goldwurm S, Guidi M, Riboldazzi G, Brown L, Walter U, Benecke R, Berg D, Gasser T, Theuns J, Pals P, Cras P, De Deyn PP, Engelborghs S, Pickut B, Uitti RJ, Foroud T, Nichols WC, Hagenah J, Klein C, Samii A, Zabetian CP, Bonifati V, Van Broeckhoven C, Farrer MJ, Wszolek ZK (2008) Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease. Neurology 70(16 Pt 2):1456-60

Healy DG, Falchi M, O’Sullivan SS, Bonifati V, Durr A, Bressman S, Brice A, Aasly J, Zabetian CP, Goldwurm S, Ferreira JJ, Tolosa E, Kay DM, Klein C, Williams DR, Marras C, Lang AE, Wszolek ZK, Berciano J, Schapira AHV, Lynch T, Bhatia KP, Gasser T, Lees AJ, Wood NW (2008) Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson’s disease: a case-control study. Lancet Neurology 7(7):583-90

Hoepken H, 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 (2008) Parkinson patient fibroblasts show increased alpha-synuclein expression. Experimental Neurology 212(2):307-13
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 (2008) Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism. Neurology 70(23):2261-2

Kamm C, Fogel W, Wächter T, Schweitzer K, Berg D, Kruger R, Freudenstein D, Gasser T (2008) Novel ATP1A3 mutation in a sporadic RDP patient with minimal benefit from deep brain stimulation. Neurology 70(16 Pt 2):1501-3

Kamm C, Nägele T, Mittelbronn M, Schöning M, Melms A, Gasser T, Schöls S (2008) Primary central nervous system vasculitis in a child mimicking parasitosis. Journal of Neurology 255(1):130-2

Köllensperger M, Geser F, Seppi K, Stampfer-Kountchev M, Sawires M, Scherfler C, Boesch S, Mueller J, Koukouni V, Quinn N, Pellecchia MT, Barone P, Schimke N, Dodel R, Oertel W, Dupont E, Østergaard K, Daniels C, Deuschl G, Gurevich T, Giladi N, Coelho M, Sampaio C, Nilsson C, Widner H, Sorbo FD, Albanese A, Cardozo A, Tolosa E, Abele M, Klockgether T, Kamm C, Gasser T, Djaldetti R, Colosimo C, Meco G, Schrag A, Poewe W, Wenning GK (2008) Red flags for multiple system atrophy. Movement Disorders 23(8):1093-9

Liepelt I, Maetzler W, Blaicher H, Gasser T, Berg D (2008) Treatment for dementia in parkinsonian syndromes. Efficacy of cholinesterase inhibitors. Der Nervenarzt 79(1):36-9, 42-6

Lücking CB, Lichtner P, Dichgans M, Illig T, Gieger C, Berg D, Gasser T (2008) Polymorphisms in the proteasomal subunit alpha4 are not associated with Parkinson’s disease. Journal of Neurology 255(3):441-2

Maetzler W, Reimold M, Liepelt I, Solbach C, Leyhe T, Schweitzer K, Eschweiler GW, Mittelbronn M, Gaenslen A, Uebele M, Reischl G, Gasser T, Machulla H, Bares R, Berg D (2008) [11C]PIB binding in Parkinson’s disease dementia. NeuroImage 39(3):1027-33

Prestel J, Gempel K, Hauser T, Schweitzer K, Prokisch H, Ahting U, Freudenstein D, Bueltmann E, Naegele T, Berg D, Klopstock T, Gasser T (2008) Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation. Journal of Neurology 255(5):643-8

Ross OA, Braithwaite AT, Skipper LM, Kachergus J, Hulihan MM, Middleton FA, Nishioka K, Fuchs J, Gasser T, Maraganore DM, Adler CH, Larvor L, Chartier-Harlin M, Nilsson C, Langston JW, Gwinn K, Hattori N, Farrer MJ (2008) Genomic investigation of alpha-synuclein multiplication and parkinsonism. Annals of Neurology 63(6):743-50

Trenkwalder C, Boesch S, Ceballos-Baumann A, Dressler D, Eggert K, Gasser T, Honig H, Müller T, Reichmann H, Sieb JP, Storch A, Odin P, Poewe W (2008) Intermittent apomorphine injections as rescue therapy for advanced Parkinson’s disease. Consensus statement. Der Nervenarzt 79(4):475-9

von Coelln R, Raible A, Gasser T, Asmus F (2008) Ultrasound-guided injection of the iliopsoas muscle with botulinum toxin in camptocormia. Movement Disorders 23(6):889-92

Weber YG, Storch A, Wuttke TV, Brockmann K, Kempfle J, Maljevic S, Margari L, Kamm C, Schneider SA, Huber SM, Pekrun A, Roebling R, Seebohm G, Koka S, Lang C, Kraft E, Blazevic D, Salvo-Vargas A, Fauler M, Mottaghy FM, Münchau A, Edwards MJ, Presicci A, Margari F, Gasser T, Lang F, Bhatia KP, Lehmann-Horn F, Lerche H (2008) GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. The Journal of Clinical Investigation 118(6):2157-68
Reviews

Biskup S, Gerlach M, Kupsch A, Reichmann H, Riederer P, Vieregge P, Wüllner U, Gasser T (2008) Genes associated with Parkinson syndrome. Journal of Neurology 255 Suppl 5:8-17

Gaenslen A, Gasser T, Berg D (2008) Nutrition and the risk for Parkinson’s disease: review of the literature. Journal of Neural Transmission (Vienna, Austria: 1996) 115(5):703-13


Books, book chapters, and proceedings

Gasser T (2008) Biomarker für neurodegenerative Erkrankungen. In: Schmitz G, Endres S, Götte D (eds): Biomarker: Bedeutung für medizinischen Fortschritt und Nutzenbewertung. Schattauer Verlag, Stuttgart, New York, 156-168


2007

Original Articles

Asmus F, Devlin A, Munz M, Zimprich A, Gasser T, Chinnery PF (2007) Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. Movement Disord 22(14):2104-9

Asmus F, Hjermind LE, Dupont E, Wagenstaller J, Haberlandt E, Munz M, Strom TM, Gasser T (2007) Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. Brain 130(10):2736-45

Bogaerts V, Engelborghs S, Kumar-Singh S, Goossens D, Pickut B, van der Zee J, Sleegers K, Peeters K, Martin JJ, Del-Favero J, Gasser T, Dickson DW, Wszolek ZK, De Deyn PP, Theuns J, Van Broeckhoven C (2007) A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder. Brain 130(9):2277-91

Breit S, Bouali-Benazzouz R, Popa RC, Gasser T, Benabid AL, Benazzouz A (2007) Effects of 6-hydroxydopamine-induced severe or partial lesion of the nigrostriatal pathway on the neuronal activity of pallido-subthalamic network in the rat. Exp Neurol 205(1):36-47

Brötz D, Eichner M, Gasser T, Weller M, Steinbach JP (2007) Radicular and nonradicular back pain in Parkinson’s disease: a controlled study. Movement Disord 22(6):853-6

Eggert K, Wullner U, Antony G, Gasser T, Janetzky B, Klein C, Schöls S, Oertel W (2007) Data protection in biomaterial banks for Parkinson’s disease research: the model of GEPARD (Gene Bank Parkinson’s Disease Germany). Movement Disord 22(5):611-8

Exner N, Treske B, Paquet D, Holmström K, Schiesling C, Gispert S, Carballo-Carbajal I, Berg D, Hoepken HH, Gasser T, Krüger R, Winklhofer KF, Vogel F, Reichert AS, Auburger G, Kahle PJ, Schmid B, Haass C (2007) Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin. J Neurosci 27(45):12413-8

Fuchs J, Nilsson C, Kachergus J, Munz M, Larsson EM, Schule B, Langston JW, Middleton FA, Ross OA, Hulihan M, Gasser T, Farrer MJ (2007) Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication. Neurology 68(12):916-22

Haubenberger D, Bonelli S, Hotzy C, Leitner P, Lichtner P, Samal D, Katzenschlager R, Djamshidian A, Brucke T, Steffelbauer M, Bancher C, Grossmann J, Ransmayr G, Strom TM, Meitinger T, Gasser T, Auff E, Zimprich A (2007) A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson’s disease. Movement Disord 22(11):1640-3

Kamm C, Mayer P, Sharma M, Niemann G, Gasser T (2007) New family with paroxysmal exercise-induced dystonia and epilepsy. Movement Disord 22(6):873-7

Litvan I, Chesselet MF, Gasser T, Di Monte DA, Parker D Jr, Hagg T, Hardy J, Jenner P, Myers RH, Price D, Hallett M, Langston WJ, Lang AE, Halliday G, Rocca W, Duyckaerts C, Dickson DW, Ben-Shlomo Y, Goetz CG, Melamed E (2007) The etiopathogenesis of Parkinson disease and suggestions for future research. Part II. J Neuropath Exp Neur 66(5):329-36

Litvan I, Halliday G, Hallett M, Goetz CG, Rocca W, Duyckaerts C, Ben-Shlomo Y, Dickson DW, Lang AE, Chesselet MF, Langston WJ, Di Monte DA, Gasser T, Hagg T, Hardy J, Jenner P, Melamed E, Myers RH, Parker D Jr, Price DL (2007) The etiopathogenesis of Parkinson disease and suggestions for future research. Part I. J Neuropath Exp Neur 66(4):251-7

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

Mätzler W, Nagele T, Gasser T, Krüger R (2007) Acute parkinsonism with corresponding lesions in the basal ganglia after heroin abuse. Neurology 68(6):414

Ohta E, Hasegawa K, Gasser T, Obata F (2007) Independent occurrence of I2020T mutation in the kinase domain of the leucine rich repeat kinase 2 gene in Japanese and German Parkinson’s disease families. Neurosci Lett 417(1):21-3

Rosenberger A, Sharma M, Muller-Myhsok B, Gasser T, Bickeboller H (2007) Meta analysis of whole-genome linkage scans with data uncertainty: an application to Parkinson’s disease. BMC Genet 8(44):1-9

Rosenkranz D, Weyer S, Tolosa E, Gaenslen A, Berg D, Leyhe T, Gasser T, Stoltze L (2007) Higher frequency of regulatory T cells in the elderly and increased suppressive activity in neurodegeneration. J Neuroimmunol 188(1):117-27

Schweitzer KJ, Behnke S, Liepelt I, Wolf B, Grosser C, Godau J, Gaenslen A, Brüssel T, Wendt A, Abel F, Müller A, Gasser T, Berg D (2007) Cross-sectional study discloses a positive family history for Parkinson’s disease and male gender as epidemiological risk factors for substantia nigra hyperechogenicity. J Neural Transm 114(9):1167-71

Schweitzer KJ, Brüssel T, Leitner P, Krüger R, Bauer P, Woitalla D, Tomiuk J, Gasser T, Berg D (2007) Transcranial ultrasound in different monogenetic subtypes of Parkinson’s disease. J Neurol 254(5):613-16

Taylor JP, Hulihan MM, Kachergus JM, Melrose HL, Lincoln SJ, Hinkle KM, Stone JT, Ross OA, Hauser R, Aasly J, Gasser T, Payami H, Wszolek ZK, Farrer MJ (2007) Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson‘s disease. Neurogenetics 8(2):95-102

Valkovic P, Krastev G, Mako M, Leitner P, Gasser T (2007) A unique case of coincidence of early onset Parkinson‘s disease and multiple sclerosis. Movement Disord 22(15)2278-81

Reviews

Gasser T (2007) Update on the genetics of Parkinson‘s disease. Movement Disord 22(S17):S343-50

Liepelt I, Mätzler W, Blaicher HP, Gasser T, Berg D (2007) Treatment of dementia in parkinsonian syndromes with cholinesterase inhibitors. Dement Geriatr Cogn 23(6):351-67

Liepelt I, Mätzler W, Blaicher HP, Gasser T, Berg D (2007) Behandlung der Demenz bei Parkinson-Syndromen. Nervenarzt 79(1):36-46

Books, book chapters, and proceedings

Gasser T (2007) Molekulargenetische Diagnostik und Gentherapie. In: Brandt T, Dichgans J, Diener HC (eds) Therapie und Verlauf neurologischer Erkrankungen, 5th edition. Kohlhammer, Stuttgart, 1519-38

Gasser T (2007) Genetics of Parkinson’s disease. In: Jankowic J, Tolosa E (eds) Parkinson’s disease and movement disorders, 5th edition. Liptincott, Williams and Wilkins, Philadelphia, 93-101

Gasser T, Danek A (2007) Chorea. In: Brandt T, Dichgans J, Diener HC (eds) Therapie und Verlauf neurologischer Erkrankungen, 5. Auflage. Kohlhammer, Stuttgart, 1089-97

Gasser T (2007) Molekulargenetische Diagnostik und Gentherapie. In: Brandt T, Dichgans J, Diener HC (eds) Therapie und Verlauf neurologischer Erkrankungen, 5th edition. Kohlhammer, Stuttgart, 1519-38

Schulz JB, Gasser T (2007) Parkinson-Syndrome. In: Brandt T, Dichgans J, Diener HC (eds) Therapie und Verlauf neurologischer Erkrankungen, 5. Auflage. Kohlhammer, Stuttgart, 961-1007

2006

Original Articles

Bender A, Koch W, Elstner M, Schombacher Y, Bender J, Moeschl M, Gekeler F, Müller-Myhsok B, Gasser T, Tatsch K, Klopstock T (2006) Creatine supplementation in Parkinson disease: A placebo-controlled randomized pilot trial. Neurology 67:1262-4

Breit S, Lessmann L, Unterbrink D, Popa RC, Gasser T, Schulz JB (2006) Lesion of the pedunculopontine nucleus reverses hyperactivity of the subthalamic nucleus and substantia nigra pars reticulata in a 6-hydroxydopamine rat model. Eur J Neurosci 24(8):2275-82

Depboylu C, Lohmuller F, Du Y, Riemenschneider M, Kurz A, Gasser T, Muller U, Dodel RC (2006) Alpha2-macroglobulin, lipoprotein receptor-related protein and lipoproteinreceptor-associated protein and the genetic risk for developing Alzheimer's disease. Neurosci Lett 400(3):187-90

Deutschlander A, Asmus F, Marelli E, Klopstock T, Gasser T, Botzel K (2006) Excellent response to  pomorphine in Parkinsonism with optic atrophy unresponsive to oral antiparkinsonian medication. Movement Disord 21(9):1523-5

Di Fonzo A, Tassorelli C, De Mari M, Chien HF, Ferreira J, Rohe CF, Riboldazzi G, Antonini A, Albani G, Mauro A, Marconi R, Abbruzzese G, Lopiano L, Fincati E, Guidi M, Marini P, Stocchi F, Onofrj M, Toni V, Tinazzi M, Fabbrini G, Lamberti P, Vanacore N, Meco G, Leitner P, Uitti RJ, Wszolek ZK, Gasser T, Simons EJ, Breedveld GJ, Goldwurm S, Pezzoli G, Sampaio C, Barbosa E, Martignoni E, Oostra BA, Bonifati V (2006) Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. Eur J Hum Genet 14(3):322-31

Elstner M, Bettecken T, Wasner M, Anneser F, Dichgans M, Meitinger T, Gasser T, Klopstock T( 2006) Familial carpal tunnel syndrome: further evidence for a geneticcontribution. Clin Genet 69(2):179-82

Fernandez-Santiago R, Sharma M, Mueller C, Gohlke H, Illig T, Anneser J, Münch C, Ludolph A, Kamm C, Gasser T (2006) Possible gender-dependent association of vascular endothelial growth factor (VEGF) gene and ALS. Neurology 66:1929-31

Gasser T (2006) Molecular genetic findings in LRRK2 American, Canadian and German families. J Neural Transm-Supp 70:231-4

Kamm C, Asmus F, Mueller J, Mayer P, Sharma M, Muller UJ, Beckert S, Ehling R, Illig T, Wichmann HE, Poewe W, Mueller JC, Gasser T (2006) Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia. Neurology 67(10):1857-9

Leyhe T, Schule R, Schwarzler F, Gasser T, Haarmeier T (2006) Second primary tumor in anti-Ma1/2-positive paraneoplastic limbicencephalitis. J Neuro-Oncol 78(1):49-51

Liebetanz KM, Winkelmann J, Trenkwalder C, Putz B, Dichgans M, Gasser T, Muller-Myhsok B (2006) RLS3: fine-mapping of an autosomal dominant locus in a family with intrafamilial heterogeneity. Neurology 67(2):320-1

Ozawa T, Healy DG, Abou-Sleiman PM, Ahmadi KR, Quinn N, Lees AJ, Shaw K, Wullner U, Berciano J, Moller JC, Kamm C, Burk K, Josephs KA, Barone P, Tolosa E, Goldstein DB, Wenning G, Geser F, Holton JL, Gasser T, Revesz T, Wood NW (2006) The a-synuclein gene in multiple system atrophy. J Neurol Neurosur PS 77:464-7

Prestel J, Schweitzer K, Hofer A, Gasser T, Berg D (2006) Predictive value of transcranial sonography in the diagnosis of Parkinson's disease. Movement Disord 21:1763-5

Schneider SA, Mohire MD, Trender-Gerhard I, Asmus F, Sweeney M, Davis M, Gasser T, Wood NW, Bhatia KP (2006) Familial dopa-responsive cervical dystonia. Neurology 66:599-601

Schulte C, Sharma M, Mueller JC, Lichtner P, Prestel J, Berg D, Gasser T (2006) Comprehensive association analysis of the NOS2A gene with Parkinson disease. Neurology 67(11)2080-2

Sharma M, Mueller JC, Zimprich A, Lichtner P, Hofer A, Leitner P, Maass S, Berg D, Dürr A, Bonifati V, De Michele G, Oostra B, Brice A, Wood NW, Müller-Myhsok B, Gasser T (2006) The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations. J Med Genet 43:557-62

Reviews

Albanese A, Barnes MP, Bhatia KP, Fernandez-Alvarez E, Filippini G, Gasser T, Krauss JK, Newton A, Rektor I, Savoiardo M, Valls-Sole J (2006) A systematic review on the diagnosis and treatment of primary (idiopathic)dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force. Eur J Neurol 13(5):433-44

Originalarbeiten

Asmus F, Schoenian S, Lichtner P, Munz M, Mayer P, Muller-Myhsok B, Zimprich A, Remschmidt H, Hebebrand J, bandmann O, Gasser T. Epsilon-Sarcoglycan (SGCE) is not involved in sporadic Gilles de la Tourette syndrome. Neurogenetics 2005; akzeptiert.

Deutschlander A, Asmus F, Gasser T, Steude U, Botzel K. Sporadic rapid-onset dystonia-parkinsonism syndrome: Failure of bilateral pallidal stimulation. Mov Disord 2004.

Kamm C, Boston H, Hewett J, Wilbur J, Corey DP, Hanson PI, Ramesh V, Breakefield XO. The early onset dystonia protein torsinA interacts with kinesin light chain 1. J Biol Chem. 2004 May 7;279(19):19882-92

Kamm C, Leung J, Joseph S, Dobyns WB, Brashear A, Breakefield XO, Ozelius LJ. Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene. Mov Disord. 2004 Jul;19(7):845-7 

Hewett JW, Kamm C, Boston H, Beauchamp R, Naismith T, Ozelius L, Hanson PI, Breakefield XO, Ramesh V. TorsinB--perinuclear location and association with torsinA. J Neurochem. 2004 Jun;89(5):1186-94

Hewett J, Ziefer P, Bergeron D, Naismith T, Boston H, Slater D, Wilbur J, Schuback D, Kamm C, Smith N, Camp S, Ozelius LJ, Ramesh V, Hanson PI, Breakefield XO. TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress. J Neurosci Res. 2003 Apr 15;72(2):158-68

Castelon Konkiewitz E, Trender-Gerhard I, Kamm C, Warner T, Ben-Shlomo Y, Gasser T, Conrad B, and Ceballos-Baumann AO. Service-based survey of dystonia in munich. Neuroepidemiology 2002, 21(4): 202-6

Bandmann O, Asmus F, Sibbing D, Grundmann M, Schwab SG, Muller J, Wildenauer DB, Poewe W, Gasser T, Oertel WH. Copper genes are not implicated in the pathogenesis of focal dystonia. Neurology 2002; 59: 782-783

Muller J, Kiechl S, Wenning GK, Seppi K, Willeit J, Gasperi A, Wissel J, Gasser T, Poewe W. The prevalence of primary dystonia in the general community. Neurology 2002; 59: 941-943.

Asmus F, Zimprich A, Tezenas Du MS, Kabus C, Deuschl G, Kupsch A, Ziemann U, Castro M, Kuhn AA, Strom TM, Vidailhet M, Bhatia KP, Durr A, Wood NW, Brice A, Gasser T. Myoclonus-dystonia syndrome: epsilon -sarcoglycan mutations and phenotype. Ann Neurol 2002; 52: 489-492.

Kruse N, Berg D, Francis MJ, Naumann M, Rausch W-D, Reiners K, Rieckmann P, Weishaupt A, Becker G. Reduction of Menkes mRNA and Copper in Leucocytes of Patients with Primary Adult-Onset Dystonia. Ann Neurol, 2001;49:405-408.

Becker G, Berg D, Francis M, Naumann M. Evidence for disturbances of copper metabolism in dystonia. Neurology 2001;57:2290-2294.

Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, Scheidtmann K, Kern P, Winkelmann J, Muller-Myhsok B, Riedel L, Bauer M, Muller T, Castro M, Meitinger T, Strom TM, Gasser T. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001; 29: 66-69.

Wunderlich S, Reiners K, Gasser T, Naumann M. Cervical dystonia in monozygotic twins: Case report and review of the literature. Mov Disord 2001; 16: 714-718.

Leung JC, Klein C, Friedman J, Vieregge P, Jacobs H, Doheny D, Kamm C, deLeon D, Pramstaller PP, Penney JB, Eisengart M, Jankovic J, Gasser T, Bressman SB, Corey DP, Kramer P, Brin MF, Ozelius LJ, Breakefield XO. Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 2001; 3: 133-143.

Asmus F, Zimprich A, Naumann M, Berg D, Bertram L, Ceballos-Baumann A, Pruszak-Seel R, Kabus C, Dichgans M, Fuchs S, Müller-Myhsok B, Gasser T. Inherited Myoclonus-Dystonia Syndrome: Narrowing the 7q21-q31 Locus in German Families. Ann Neurol 2001; ??: 121-124.

Berg D, Weishaupt A, Francis MJ, Miura N, Yang XL, Goodyer I, Naumann M, Koltzenburg M, Reiners K, Becker G.Changes of Copper Transporting Proteins and Ceruloplasmin in the Lentiform Nuclei in Primary Adult-Onset Dystonia. Ann Neurol 2000;47:827-30.

Kamm C, Naumann M, Mueller J, Mai N, Riedel L, Wissel J, Gasser T. The DYT1 GAG deletion is infrequent in sporadic and familial writer' s cramp. Mov Disord 2000; 15: 1238-1241.

Kamm C, Castelon-Konkiewitz E, Naumann M, Heinen F, Brack M, Nebe A, Ceballos-Baumann A, Gasser T. GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. Mov Disord 1999; 14: 681-683.

Gasser T. Inherited myoclonus-dystonia syndrome. Adv Neurol 1998; 78:325-34: 325-334.

Gasser T, Windgassen K, Bereznai B, Kabus C, Ludolph AC. Phenotypic expression of the DYT1-mutation: a family with writer's cramp of juvenile onset. Ann Neurol 1998; 44: 126-128.

Gasser T. Idiopathic, myoclonic and Dopa-responsive dystonia. Curr Opin Neurol 1997; 10: 357-362.

Gasser T, Bereznai B, Müller B, Pruszak-Seel R, Damrich R, Deuschl G, Oertel WH. Linkage studies in alcohol-responsive myoclonic dystonia. Mov Disord 1996; 12: 363-370.

Gasser T, Bove CM, Ozelius LJ, Hallett M, Charness ME, Hochberg FH, Breakefield XO. Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia. Mov Disord 1996; 11: 163-166.


Reviews

Kamm C. Idiopathic torsion dystonia. Orphanet Encyclopedia, May 2004. http://www.orpha.net/data/patho/GB/uk-IdiopathicTorsionDystonia.pdf

Asmus F, Gasser T. Genetics and molecular pathogenesis of myoclonus-dystonia. Nervenheilkunde 2004a; 23: 99-103.

Asmus F, Gasser T. Inherited myoclonus-dystonia. Adv Neurol 2004b; 94: 113-9.

Articles
Schmitz-Hubsch T, Tezenas du Montcel S, Baliko L, Boesch S, Bonato S, Fancellu R, et al. Reliability and validity of the International Cooperative Ataxia Rating Scale: A study in 156 spinocerebellar ataxia patients. Mov Disord 2006.

Konieczny M, Bauer P, Tomiuk J, Weisser G, Haan J, Berger K, et al. CAG repeats in Restless Legs syndrome. Am J Med Genet B Neuropsychiatr Genet 2006;141(2):173-6.

Schols L, Zange J, Abele M, Schillings M, Skipka G, Kuntz-Hehner S, et al. L-carnitine and creatine in Friedreich's ataxia. A randomized, placebo-controlled crossover trial. J Neural Transm 2005;112(6):789-96.

Saft C, Zange J, Andrich J, Muller K, Lindenberg K, Landwehrmeyer B, et al. Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease. Mov Disord 2005.

Rub U, Brunt ER, Gierga K, Seidel K, Schultz C, Schols L, et al. Spinocerebellar ataxia type 7 (SCA7): first report of a systematic neuropathological study of the brain of a patient with a very short expanded CAG-repeat. Brain Pathol 2005;15(4):287-95.

Rub U, Del Turco D, Burk K, Diaz GO, Auburger G, Mittelbronn M, et al. Extended pathoanatomical studies point to a consistent affection of the thalamus in spinocerebellar ataxia type 2. Neuropathol Appl Neurobiol 2005;31(2):127-40.

Rub U, Gierga K, Brunt ER, de Vos RA, Bauer M, Schols L, et al. Spinocerebellar ataxias types 2 and 3: degeneration of the precerebellar nuclei isolates the three phylogenetically defined regions of the cerebellum. J Neural Transm 2005.

Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, et al. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol 2005;58(5):720-9.

Kamm C, Healy DG, Quinn NP, Wullner U, Moller JC, Schols L, et al. The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. Brain 2005;128(Pt 8):1855-60.

Gierga K, Burk K, Bauer M, Orozco Diaz G, Auburger G, Schultz C, et al. Involvement of the cranial nerves and their nuclei in spinocerebellar ataxia type 2 (SCA2). Acta Neuropathol (Berl) 2005;109(6):617-31.

Berg D, Niwar M, Maass S, Zimprich A, Moller JC, Wuellner U, et al. Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients. Mov Disord 2005;20(9):1191-1194.

Schulte-Mattler WJ, Krack P. Treatment of chronic tension-type headache with botulinum toxin A: a randomized, double-blind, placebo-controlled multicenter study. Pain 2004;109(1-2):110-4.

Schols L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004;3(5):291-304.

Schols L, Meyer C, Schmid G, Wilhelms I, Przuntek H. Therapeutic strategies in Friedreich's ataxia. J Neural Transm Suppl 2004(68):135-45.

Schols L, Zange J, Abele M, Schillings M, Skipka G, Kuntz-Hehner S, et al. L-carnitine and creatine in Friedreich's ataxia. A randomized, placebo-controlled crossover trial. J Neural Transm 2004.

Saft C, Andrich JE, Neuen-Jacob E, Schmid G, Schols L, Amoiridis G. Supracubital perineurioma misdiagnosed as carpal tunnel syndrome: case report. BMC Neurol 2004;4(1):19.

Rub U, Burk K, Schols L, Brunt ER, de Vos RA, Diaz GO, et al. Damage to the reticulotegmental nucleus of the pons in spinocerebellar ataxia type 1, 2, and 3. Neurology 2004;63(7):1258-63.

Postert T, Eyding J, Berg D, Przuntek H, Becker G, Finger M, et al. Transcranial sonography in spinocerebellar ataxia type 3. J Neural Transm Suppl 2004(68):123-33.

Moreira MC, Klur S, Watanabe M, Nemeth AH, Le Ber I, Moniz JC, et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet 2004;36(3):225-7.

Hering R, Strauss KM, Tao X, Bauer A, Woitalla D, Mietz EM, et al. Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). Hum Mutat 2004;24(4):321-9.

Grundmann K, Laubis-Herrmann U, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, et al. Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias. Mov Disord 2004;19(11):1294-7.

Grundmann K, Laubis-Herrmann U, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, et al. Mutation at the SCA17 locus is not a common cause of primary dystonia. J Neurol 2004;251(10):1232-4.

Schulte T, Miterski B, Bornke C, Przuntek H, Epplen JT, Schols L. Neurophysiological findings in SPG4 patients differ from other types of spastic paraplegia. Neurology 2003;60(9):1529-32.

Schulte T, Bohringer S, Schols L, Muller T, Fischer C, Riess O, et al. Modulation of disease risk according to a cathepsin D / apolipoprotein E genotype in Parkinson's disease. J Neural Transm 2003;110(7):749-55.

Schols L, Bauer I, Zuhlke C, Schulte T, Kolmel C, Burk K, et al. Do CTG expansions at the SCA8 locus cause ataxia? Ann Neurol 2003;54(1):110-5.

Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 2003;54(3):367-75.

Marx FP, Holzmann C, Strauss KM, Li L, Eberhardt O, Gerhardt E, et al. Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease. Hum Mol Genet 2003;12(11):1223-31.

Kruger R, Fischer C, Schulte T, Strauss KM, Muller T, Woitalla D, et al. Mutation analysis of the neurofilament M gene in Parkinson's disease. Neurosci Lett 2003;351(2):125-9.

Holzmann C, Kruger R, Saecker AM, Schmitt I, Schols L, Berger K, et al. Polymorphisms of the alpha-synuclein promoter: expression analyses and association studies in Parkinson's disease. J Neural Transm 2003;110(1):67-76.

Grundmann K, Laubis-Herrmann U, Bauer I, Dressler D, Vollmer-Haase J, Bauer P, et al. Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. Arch Neurol 2003;60(9):1266-70.

Abele M, Schols L, Schwartz S, Klockgether T. Prevalence of antigliadin antibodies in ataxia patients. Neurology 2003;60(10):1674-5.

Wintermeyer P, Riess O, Schols L, Przuntek H, Miterski B, Epplen JT, et al. Mutation analysis and association studies of nuclear factor-kappaB1 in sporadic Parkinson's disease patients. J Neural Transm 2002;109(9):1181-8.

Schwenkreis P, Tegenthoff M, Witscher K, Bornke C, Przuntek H, Malin JP, et al. Motor cortex activation by transcranial magnetic stimulation in ataxia patients depends on the genetic defect. Brain 2002;125(Pt 2):301-9.

Schulte T, Schols L, Muller T, Woitalla D, Berger K, Kruger R. Polymorphisms in the interleukin-1 alpha and beta genes and the risk for Parkinson's disease. Neurosci Lett 2002;326(1):70-2.

Schmidt T, Lindenberg KS, Krebs A, Schols L, Laccone F, Herms J, et al. 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 2002;51(3):302-10.

Sauter S, Miterski B, Klimpe S, Bonsch D, Schols L, Visbeck A, et al. Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Hum Mutat 2002;20(2):127-32.

Rahner N, Holzmann C, Kruger R, Schols L, Berger K, Riess O. Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson's disease. Brain Res 2002;951(1):82-6.

Bornke C, Schmid G, Szymanski S, Schols L. Vertebral body infarction indicating midthoracic spinal stroke. Spinal Cord 2002;40(5):244-7.

Abele M, Burk K, Schols L, Schwartz S, Besenthal I, Dichgans J, et al. The aetiology of sporadic adult-onset ataxia. Brain 2002;125(Pt 5):961-8.

Schulte T, Mattern R, Berger K, Szymanski S, Klotz P, Kraus PH, et al. Double-blind crossover trial of trimethoprim-sulfamethoxazole in spinocerebellar ataxia type 3/Machado-Joseph disease. Arch Neurol 2001;58(9):1451-7.

Schols L, Vorgerd M, Schillings M, Skipka G, Zange J. Idebenone in patients with Friedreich ataxia. Neurosci Lett 2001;306(3):169-72.

Kruger R, Kuhn W, Leenders KL, Sprengelmeyer R, Muller T, Woitalla D, et al. Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers. Neurology 2001;56(10):1355-62.

Kruger R, Schols L, Muller T, Kuhn W, Woitalla D, Przuntek H, et al. Evaluation of the gamma-synuclein gene in German Parkinson's disease patients. Neurosci Lett 2001;310(2-3):191-3.

Figueroa KP, Chan P, Schols L, Tanner C, Riess O, Perlman SL, et al. Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with ataxia. Arch Neurol 2001;58(10):1649-53.

Bit-Avragim N, Perrot A, Schols L, Hardt C, Kreuz FR, Zuhlke C, et al. The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia. J Mol Med 2001;78(11):626-32.

Wintermeyer P, Kruger R, Kuhn W, Muller T, Woitalla D, Berg D, et al. Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients. Neuroreport 2000;11(10):2079-82.

Vorgerd M, Schols L, Hardt C, Ristow M, Epplen JT, Zange J. Mitochondrial impairment of human muscle in Friedreich ataxia in vivo. Neuromuscul Disord 2000;10(6):430-5.

Schulz JB, Dehmer T, Schols L, Mende H, Hardt C, Vorgerd M, et al. Oxidative stress in patients with Friedreich ataxia. Neurology 2000;55(11):1719-21.

Schols L, Szymanski S, Peters S, Przuntek H, Epplen JT, Hardt C, et al. Genetic background of apparently idiopathic sporadic cerebellar ataxia. Hum Genet 2000;107(2):132-7.

Schols L, Peters S, Szymanski S, Kruger R, Lange S, Hardt C, et al. Extrapyramidal motor signs in degenerative ataxias. Arch Neurol 2000;57(10):1495-500.

Kruger R, Menezes-Saecker AM, Schols L, Kuhn W, Muller T, Woitalla D, et al. Genetic analysis of the alpha2-macroglobulin gene in early- and late-onset Parkinson's disease. Neuroreport 2000;11(11):2439-42.

Kruger R, Hardt C, Tschentscher F, Jackel S, Kuhn W, Muller T, et al. Genetic analysis of immunomodulating factors in sporadic Parkinson's disease. J Neural Transm 2000;107(5):553-62.

Hebinck J, Hardt C, Schols L, Vorgerd M, Briedigkeit L, Kahn CR, et al. Heterozygous expansion of the GAA tract of the X25/frataxin gene is associated with insulin resistance in humans. Diabetes 2000;49(9):1604-7.

Amoiridis G, Schols L. Is the sural nerve a pure sensory nerve? Muscle Nerve 2000;23(12):1895-6.

Kruger R, Vieira-Sacker AM, Kuhn W, Muller T, Woitalla D, Schols L, et al. Analysis of the parkin deletion in sporadic and familial Parkinson's disease. Short communication. J Neural Transm 1999;106(2):159-63.

Kruger R, Vieira-Saecker AM, Kuhn W, Berg D, Muller T, Kuhnl N, et al. Increased susceptibility to sporadic Parkinson's disease by a certain combined alpha-synuclein/apolipoprotein E genotype. Ann Neurol 1999;45(5):611-7.

Klockgether T, Schols L, Abele M, Burk K, Topka H, Andres F, et al. Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). J Neurol Neurosurg Psychiatry 1999;66(2):222-4.

Dichgans M, Schols L, Herzog J, Stevanin G, Weirich-Schwaiger H, Rouleau G, et al. Spinocerebellar ataxia type 6: evidence for a strong founder effect among German families. Neurology 1999;52(4):849-51.

Schols L, Kruger R, Amoiridis G, Przuntek H, Epplen JT, Riess O. Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. J Neurol Neurosurg Psychiatry 1998;64(1):67-73.

Schols L, Haan J, Riess O, Amoiridis G, Przuntek H. Sleep disturbance in spinocerebellar ataxias: is the SCA3 mutation a cause of restless legs syndrome? Neurology 1998;51(6):1603-7.

Schmidt T, Landwehrmeyer GB, Schmitt I, Trottier Y, Auburger G, Laccone F, et al. An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients. Brain Pathol 1998;8(4):669-79.

Kruger R, Kuhn W, Muller T, Woitalla D, Graeber M, Kosel S, et al. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat Genet 1998;18(2):106-8.

Klockgether T, Ludtke R, Kramer B, Abele M, Burk K, Schols L, et al. The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain 1998;121 ( Pt 4):589-600.

Amoiridis G, Schols L, Przuntek H, Wohrle J. Collision technique in Martin-Gruber anastomosis. Muscle Nerve 1998;21(10):1354-6.

Schols L, Amoiridis G, Langkafel M, Schols S, Przuntek H. Motor evoked potentials in the spinocerebellar ataxias type 1 and type 3. Muscle Nerve 1997;20(2):226-8.

Schols L, Riess O, Amoiridis G, Riess A, Przuntek H, Epplen JT. [Genetic diagnosis, classification and clinical hereditary ataxia disease entities]. Fortschr Neurol Psychiatr 1997;65(2):79-89.

Schols L, Gispert S, Vorgerd M, Menezes Vieira-Saecker AM, Blanke P, Auburger G, et al. Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds. Arch Neurol 1997;54(9):1073-80.

Schols L, Amoiridis G, Buttner T, Przuntek H, Epplen JT, Riess O. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann Neurol 1997;42(6):924-32.

Schols L, Amoiridis G, Przuntek H, Frank G, Epplen JT, Epplen C. Friedreich's ataxia. Revision of the phenotype according to molecular genetics. Brain 1997;120 ( Pt 12):2131-40.

Riess O, Epplen JT, Amoiridis G, Przuntek H, Schols L. Transmission distortion of the mutant alleles in spinocerebellar ataxia. Hum Genet 1997;99(2):282-4.

Riess O, Schols L, Bottger H, Nolte D, Vieira-Saecker AM, Schimming C, et al. SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene. Hum Mol Genet 1997;6(8):1289-93.

Riess O, Laccone FA, Gispert S, Schols L, Zuhlke C, Vieira-Saecker AM, et al. SCA2 trinucleotide expansion in German SCA patients. Neurogenetics 1997;1(1):59-64.

Haupt A, Schols L, Przuntek H, Epplen JT. Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications/deletions. Hum Genet 1997;99(5):688-91.

Epplen C, Epplen JT, Frank G, Miterski B, Santos EJ, Schols L. Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene. Hum Genet 1997;99(6):834-6.

Amoiridis G, Schols L, Ameridis N, Przuntek H. Motor fibers in the sural nerve of humans. Neurology 1997;49(6):1725-8.

Schols L, Amoiridis G, Epplen JT, Langkafel M, Przuntek H, Riess O. Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation. J Neurol Neurosurg Psychiatry 1996;61(5):466-70.

Klockgether T, Kramer B, Ludtke R, Schols L, Laccone F. Repeat length and disease progression in spinocerebellar ataxia type 3. Lancet 1996;348(9030):830.

Amoiridis G, Schols L, Meves S, Przuntek H. Fact and fallacy in clinical and electrophysiological studies of anomalous innervation of the intrinsic foot muscles. Muscle Nerve 1996;19(9):1227-9.

Amoiridis G, Meves S, Schols L, Przuntek H. Reversible urinary retention as the main symptom in the first manifestation of a syringomyelia. J Neurol Neurosurg Psychiatry 1996;61(4):407-8.

Amoiridis G, Schols L, Pohlau D, Berger K, Niemczyk W, Przuntek H. [Drug-induced rhabdomyolysis and lesions of peripheral nerves. Sequelae of local ischemia within the scope of circulatory collapse?]. Nervenarzt 1996;67(12):1023-6.


Books
Rieß O, Schöls L (eds) Neurogenetik. Molekulargenetische Diagnostik neurologischer und psychiatrischer Erkrankungen. Stuttgart, Verlag Kohlhammer, 2002

Rieß O, Schöls L (eds) Neurogenetik. Molekulargenetische Diagnostik neurologischer Erkrankungen. Berlin, Springer Verlag, 1998


Bookchapters
Rieß O, Schöls L. Direkte Gendiagnostik und Mutationstypen. In Riess O, Schöls L (Hrsg.): Neurogenetik - Molekulargenetische Diagnostik neurologischer Erkrankungen. Springer Verlag, Berlin 1998: 27-34

Schöls L. Adrenoleukodystrophie. In Riess O, Schöls L (Hrsg.): Neurogenetik - Molekulargenetische Diagnostik neurologischer Erkrankungen. Springer Verlag, Berlin 1998: 215-218

Schöls L, Rieß O. Kupferstoffwechselstörungen. In Riess O, Schöls L (Hrsg.): Neurogenetik - Molekulargenetische Diagnostik neurologischer Erkrankungen. Springer Verlag, Berlin 1998: 218-222

Schöls L. Gilles-de-la-Tourette-Syndrom. In Riess O, Schöls L (Hrsg.): Neurogenetik - Molekulargenetische Diagnostik neurologischer Erkrankungen. Springer Verlag, Berlin 1998: 222-223

Schöls L, Przuntek H, Rieß O. Parkinson-Syndrom. In Riess O, Schöls L (Hrsg.): Neurogenetik - Molekulargenetische Diagnostik neurologischer Erkrankungen. Springer Verlag, Berlin 1998: 232-240

Schöls L, Rieß O. Hereditäre Ataxien. In Riess O, Schöls L (Hrsg.): Neurogenetik - Molekulargenetische Diagnostik neurologischer Erkrankungen. Springer Verlag, Berlin 1998: 249-277

Schöls L. Hereditäre Neuropathien. In Riess O, Schöls L (Hrsg.): Neurogenetik - Molekulargenetische Diagnostik neurologischer Erkrankungen. Springer Verlag, Berlin 1998: 315-332

Schöls L, Mortier W, Rieß O. Dystrophia myotonica Curschmann-Steinert. In Riess O, Schöls L (Hrsg.): Neurogenetik - Molekulargenetische Diagnostik neurologischer Erkrankungen. Springer Verlag, Berlin 1998: 362-370

Schöls L. Myasthene Syndrome. In Riess O, Schöls L (Hrsg.): Neurogenetik - Molekulargenetische Diagnostik neurologischer Erkrankungen. Springer Verlag, Berlin 1998: 370-374

Schöls L, Paulson H, Riess O. Spinocerebellar ataxia type 3 /Machado-Joseph disease. In Klockgether T (ed.): Handbook of Ataxia Disorders. Marcel Dekker, New York 2000: 385-423

Schöls L, Schulte T. Molekulare Diagnostik neurologischer Erkrankungen. In: Harrisons Innere Medizin (15. Auflage). McGraw-Hill, ABW Wissenschaftsverlag, Berlin 2002: 2549-2560

Schöls L, Riess O. Einführung und tabellarischer Überblick über genetisch diagnostizierbare neurologische Erkrankungen. In Riess O, Schöls L (Hrsg.): Neurogenetik - Molekulargenetische Diagnostik neurologischer und psychiatrischer Erkrankungen. Kohlhammer Verlag, Stuttgart 2002: 3-16

Schöls L. Klinische Aspekte der genetischen Diagnostik. In Riess O, Schöls L (Hrsg.): Neurogenetik - Molekulargenetische Diagnostik neurologischer und psychiatrischer Erkrankungen. Kohlhammer Verlag, Stuttgart 2002: 22-23

Riess O, Schöls L, Horsthemke B. Direkte Gendiagnostik und Mutationstypen. In Riess O, Schöls L (Hrsg.): Neurogenetik - Molekulargenetische Diagnostik neurologischer und psychiatrischer Erkrankungen. Kohlhammer Verlag, Stuttgart 2002: 27-34

Krüger R, Schöls L, Riess O. Idiopathisches Parkinson-Syndrom. In Riess O, Schöls L (Hrsg.): Neurogenetik - Molekulargenetische Diagnostik neurologischer und psychiatrischer Erkrankungen. Kohlhammer Verlag, Stuttgart 2002: 326-333

Schöls L. Tremor. In Riess O, Schöls L (Hrsg.): Neurogenetik - Molekulargenetische Diagnostik neurologischer und psychiatrischer Erkrankungen. Kohlhammer Verlag, Stuttgart 2002: 335-337

Schöls L, Riess O. Spinozerebelläre Ataxien. In Riess O, Schöls L (Hrsg.): Neurogenetik - Molekulargenetische Diagnostik neurologischer und psychiatrischer Erkrankungen. Kohlhammer Verlag, Stuttgart 2002: 367-385

Schöls L, Riess O. Autosomal rezessiv und X-chromosomal vererbte Ataxien. In Riess O, Schöls L (Hrsg.): Neurogenetik - Molekulargenetische Diagnostik neurologischer und psychiatrischer Erkrankungen. Kohlhammer Verlag, Stuttgart 2002: 398-408

Schöls L, Sereda MW, Nave KA. Hereditäre Neuropathien. In Riess O, Schöls L (Hrsg.): Neurogenetik - Molekulargenetische Diagnostik neurologischer und psychiatrischer Erkrankungen. Kohlhammer Verlag, Stuttgart 2002: 448-458

Sereda MW, Schöls L, Nave KA. Molekulargenetische Grundlagen der Charcot-Marie-Tooth Neuropathien (CMT/HMSN). In Riess O, Schöls L (Hrsg.): Neurogenetik - Molekulargenetische Diagnostik neurologischer und psychiatrischer Erkrankungen. Kohlhammer Verlag, Stuttgart 2002: 459-469

Schöls L, Mortier W, Riess O. Myotone Dystrophien. In Riess O, Schöls L (Hrsg.): Neurogenetik - Molekulargenetische Diagnostik neurologischer und psychiatrischer Erkrankungen. Kohlhammer Verlag, Stuttgart 2002: 508-514

Globas Ch, Geser F, Wenning G, Schöls L. Multiple system atrophy. In Brice A, Pulst SM (eds): Spinocerebellar degenerations: The ataxias and spastic paraplegias. Elsevier, in press

Dietz V, Schöls L. Syndrom der spastischen Parese und Spastische Spinalparalysen. In: Brandt T, Dichgans J, Diener Ch (Hrsg): Therapie und Verlauf neurologischer Erkrankungen. Kohlhammer Verlag, Stuttgart, 5. Auflage, im Druck

Schöls L, Asmus F. Dystonien und Dyskinesien. In: Brandt T, Dichgans J, Diener Ch (Hrsg): Therapie und Verlauf neurologischer Erkrankungen. Kohlhammer Verlag, Stuttgart, 5. Auflage, im Druck