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A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.
Zimprich A, Benet-Pagès A, Struhal W, Graf E, Eck SH, Offman MN, Haubenberger D, Spielberger S, Schulte EC, Lichtner P, Rossle SC, Klopp N, Wolf E, Seppi K, Pirker W, Presslauer S, Mollenhauer B, Katzenschlager R, Foki T, Hotzy C, Reinthaler E, Harutyunyan A, Kralovics R, Peters A, Zimprich F, Brücke T, Poewe W, Auff E, Trenkwalder C, Rost B, Ransmayr G, Winkelmann J, Meitinger T, Strom TM. Zimprich A, et al. Among authors: ransmayr g. Am J Hum Genet. 2011 Jul 15;89(1):168-75. doi: 10.1016/j.ajhg.2011.06.008. Am J Hum Genet. 2011. PMID: 21763483 Free PMC article.
VPS35 Parkinson's disease phenotype resembles the sporadic disease.
Struhal W, Presslauer S, Spielberger S, Zimprich A, Auff E, Bruecke T, Poewe W, Ransmayr G; Austrian VPS-35 Investigators Team. Struhal W, et al. Among authors: ransmayr g. J Neural Transm (Vienna). 2014 Jul;121(7):755-9. doi: 10.1007/s00702-014-1179-1. Epub 2014 Feb 21. J Neural Transm (Vienna). 2014. PMID: 24557499 Review.
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: ransmayr g. Mov Disord. 2007 Aug 15;22(11):1640-3. doi: 10.1002/mds.21568. Mov Disord. 2007. PMID: 17523199
Mortality in Parkinson's disease: a 20-year follow-up study.
Diem-Zangerl A, Seppi K, Wenning GK, Trinka E, Ransmayr G, Oberaigner W, Poewe W. Diem-Zangerl A, et al. Among authors: ransmayr g. Mov Disord. 2009 Apr 30;24(6):819-25. doi: 10.1002/mds.22414. Mov Disord. 2009. PMID: 19224612
Long-term antidyskinetic efficacy of amantadine in Parkinson's disease.
Wolf E, Seppi K, Katzenschlager R, Hochschorner G, Ransmayr G, Schwingenschuh P, Ott E, Kloiber I, Haubenberger D, Auff E, Poewe W. Wolf E, et al. Among authors: ransmayr g. Mov Disord. 2010 Jul 30;25(10):1357-63. doi: 10.1002/mds.23034. Mov Disord. 2010. PMID: 20198649 Clinical Trial.
Dopamine D4 receptor polymorphism and idiopathic Parkinson's disease.
Kronenberg MF, Menzel HJ, Ebersbach G, Wenning GK, Luginger E, Gollner M, Ransmayr G, Utermann G, Poewe W, Kronenberg F. Kronenberg MF, et al. Among authors: ransmayr g. Eur J Hum Genet. 1999 Apr;7(3):397-400. doi: 10.1038/sj.ejhg.5200297. Eur J Hum Genet. 1999. PMID: 10234518
167 results