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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: struhal w. 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. 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.
Onset of sweating depends on the type of reflex syncope.
Struhal W, Mišmaš A, Kirchmayr M, Bartl S, Javor A, Vosko MR, Ransmayr G. Struhal W, et al. Auton Neurosci. 2014 Sep;184:73-6. doi: 10.1016/j.autneu.2014.06.002. Epub 2014 Jun 14. Auton Neurosci. 2014. PMID: 25009131
A 70 year old farmer suffering from fatal meningoencephalitis.
Struhal W, Vosko MR, Mitterhumer M, Syre G, Zeiner D, Floery D, Fellner F, Ransmayr G, Gruber F. Struhal W, et al. Brain Pathol. 2014 Nov;24(6):673-4. doi: 10.1111/bpa.12205. Brain Pathol. 2014. PMID: 25345898 Free PMC article. No abstract available.
84 results