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Limbic encephalitis due to GABAB and AMPA receptor antibodies: a case series.
Dogan Onugoren M, Deuretzbacher D, Haensch CA, Hagedorn HJ, Halve S, Isenmann S, Kramme C, Lohner H, Melzer N, Monotti R, Presslauer S, Schäbitz WR, Steffanoni S, Stoeck K, Strittmatter M, Stögbauer F, Trinka E, von Oertzen TJ, Wiendl H, Woermann FG, Bien CG. Dogan Onugoren M, et al. Among authors: presslauer s. J Neurol Neurosurg Psychiatry. 2015 Sep;86(9):965-72. doi: 10.1136/jnnp-2014-308814. Epub 2014 Oct 9. J Neurol Neurosurg Psychiatry. 2015. PMID: 25300449
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: presslauer s. 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: presslauer s. 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.