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Page 1
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: reinthaler e. 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.
PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease.
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. Zimprich A, et al. Among authors: reinthaler e. Parkinsonism Relat Disord. 2009 Aug;15(7):532-4. doi: 10.1016/j.parkreldis.2009.01.005. Epub 2009 Feb 27. Parkinsonism Relat Disord. 2009. PMID: 19250854
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.
Stogmann E, Reinthaler E, Eltawil S, El Etribi MA, Hemeda M, El Nahhas N, Gaber AM, Fouad A, Edris S, Benet-Pages A, Eck SH, Pataraia E, Mei D, Brice A, Lesage S, Guerrini R, Zimprich F, Strom TM, Zimprich A. Stogmann E, et al. Among authors: reinthaler e. Brain. 2013 Apr;136(Pt 4):1155-60. doi: 10.1093/brain/awt068. Epub 2013 Mar 21. Brain. 2013. PMID: 23518707
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium; Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium; Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA. Reinthaler EM, et al. Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16. Hum Mol Genet. 2014. PMID: 24939913 Free article.
Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.
Reinthaler EM, Lal D, Jurkowski W, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Geldner J, Haberlandt E, Neophytou B, Hahn A, Altmüller J, Thiele H, Toliat MR; EuroEPINOMICS Consortium; Lerche H, Nürnberg P, Sander T, Neubauer BA, Zimprich F. Reinthaler EM, et al. Epilepsia. 2014 Aug;55(8):e89-93. doi: 10.1111/epi.12712. Epub 2014 Jul 3. Epilepsia. 2014. PMID: 24995671 Free article.
A rare P2RX7 variant in a Hungarian family with multiple sclerosis.
Zrzavy T, Kovacs-Nagy R, Reinthaler E, Deutschländer A, Schmied C, Kornek B, Leutmezer F, Zimprich A. Zrzavy T, et al. Among authors: reinthaler e. Mult Scler Relat Disord. 2019 Jan;27:340-341. doi: 10.1016/j.msard.2018.10.110. Epub 2018 Oct 27. Mult Scler Relat Disord. 2019. PMID: 30472412 No abstract available.
32 results