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A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample.
Buervenich S, Carmine A, Galter D, Shahabi HN, Johnels B, Holmberg B, Ahlberg J, Nissbrandt H, Eerola J, Hellström O, Tienari PJ, Matsuura T, Ashizawa T, Wüllner U, Klockgether T, Zimprich A, Gasser T, Hanson M, Waseem S, Singleton A, McMahon FJ, Anvret M, Sydow O, Olson L. Buervenich S, et al. Among authors: zimprich a. Arch Neurol. 2005 Jan;62(1):74-8. doi: 10.1001/archneur.62.1.74. Arch Neurol. 2005. PMID: 15642852
Autosomal dominant parkinsonism associated with variable synuclein and tau pathology.
Wszolek ZK, Pfeiffer RF, Tsuboi Y, Uitti RJ, McComb RD, Stoessl AJ, Strongosky AJ, Zimprich A, Müller-Myhsok B, Farrer MJ, Gasser T, Calne DB, Dickson DW. Wszolek ZK, et al. Among authors: zimprich a. Neurology. 2004 May 11;62(9):1619-22. doi: 10.1212/01.wnl.0000125015.06989.db. Neurology. 2004. PMID: 15136696
PARK11 is not linked with Parkinson's disease in European families.
Prestel J, Sharma M, Leitner P, Zimprich A, Vaughan JR, Dürr A, Bonifati V, De Michele G, Hanagasi HA, Farrer M, Hofer A, Asmus F, Volpe G, Meco G, Brice A, Wood NW, Müller-Myhsok B, Gasser T; European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD). Prestel J, et al. Among authors: zimprich a. Eur J Hum Genet. 2005 Feb;13(2):193-7. doi: 10.1038/sj.ejhg.5201317. Eur J Hum Genet. 2005. PMID: 15523496
Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease.
Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Bétard C, Singleton A, Hardy J, De Michele G, Bonifati V, Oostra BA, Gasser T, Wood NW, Dürr A. Martinez M, et al. Among authors: zimprich a. Am J Med Genet B Neuropsychiatr Genet. 2005 Jul 5;136B(1):72-4. doi: 10.1002/ajmg.b.30196. Am J Med Genet B Neuropsychiatr Genet. 2005. PMID: 15924299
A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease.
Haubenberger D, Bonelli S, Hotzy C, Leitner P, Lichtner P, Samal D, Katzenschlager R, Djamshidian A, Brücke T, Steffelbauer M, Bancher C, Grossmann J, Ransmayr G, Strom TM, Meitinger T, Gasser T, Auff E, Zimprich A. Haubenberger D, et al. Among authors: zimprich a. Mov Disord. 2007 Aug 15;22(11):1640-3. doi: 10.1002/mds.21568. Mov Disord. 2007. PMID: 17523199
165 results