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Genome-wide significant association with seven novel multiple sclerosis risk loci.
Lill CM, Luessi F, Alcina A, Sokolova EA, Ugidos N, de la Hera B, Guillot-Noël L, Malhotra S, Reinthaler E, Schjeide BM, Mescheriakova JY, Mashychev A, Wohlers I, Akkad DA, Aktas O, Alloza I, Antigüedad A, Arroyo R, Astobiza I, Blaschke P, Boyko AN, Buttmann M, Chan A, Dörner T, Epplen JT, Favorova OO, Fedetz M, Fernández O, García-Martínez A, Gerdes LA, Graetz C, Hartung HP, Hoffjan S, Izquierdo G, Korobko DS, Kroner A, Kubisch C, Kümpfel T, Leyva L, Lohse P, Malkova NA, Montalban X, Popova EV, Rieckmann P, Rozhdestvenskii AS, Schmied C, Smagina IV, Tsareva EY, Winkelmann A, Zettl UK, Binder H, Cournu-Rebeix I, Hintzen R, Zimprich A, Comabella M, Fontaine B, Urcelay E, Vandenbroeck K, Filipenko M, Matesanz F, Zipp F, Bertram L. Lill CM, et al. Among authors: reinthaler e. J Med Genet. 2015 Dec;52(12):848-55. doi: 10.1136/jmedgenet-2015-103442. Epub 2015 Oct 16. J Med Genet. 2015. PMID: 26475045
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
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.
Pérez-Palma E, Helbig I, Klein KM, Anttila V, Horn H, Reinthaler EM, Gormley P, Ganna A, Byrnes A, Pernhorst K, Toliat MR, Saarentaus E, Howrigan DP, Hoffman P, Miquel JF, De Ferrari GV, Nürnberg P, Lerche H, Zimprich F, Neubauer BA, Becker AJ, Rosenow F, Perucca E, Zara F, Weber YG, Lal D. Pérez-Palma E, et al. Among authors: reinthaler em. J Med Genet. 2017 Sep;54(9):598-606. doi: 10.1136/jmedgenet-2016-104495. Epub 2017 Jul 29. J Med Genet. 2017. PMID: 28756411 Free PMC 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.
TPP2 mutation associated with sterile brain inflammation mimicking MS.
Reinthaler EM, Graf E, Zrzavy T, Wieland T, Hotzy C, Kopecky C, Pferschy S, Schmied C, Leutmezer F, Keilani M, Lill CM, Hoffjan S, Epplen JT, Zettl UK, Hecker M, Deutschländer A, Meuth SG, Ahram M, Mustafa B, El-Khateeb M, Vilariño-Güell C, Sadovnick AD, Zimprich F, Tomkinson B, Strom T, Kristoferitsch W, Lassmann H, Zimprich A. Reinthaler EM, et al. Neurol Genet. 2018 Nov 13;4(6):e285. doi: 10.1212/NXG.0000000000000285. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30533531 Free PMC article.
Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease.
Vilariño-Güell C, Zimprich A, Martinelli-Boneschi F, Herculano B, Wang Z, Matesanz F, Urcelay E, Vandenbroeck K, Leyva L, Gris D, Massaad C, Quandt JA, Traboulsee AL, Encarnacion M, Bernales CQ, Follett J, Yee IM, Criscuoli MG, Deutschländer A, Reinthaler EM, Zrzavy T, Mascia E, Zauli A, Esposito F, Alcina A, Izquierdo G, Espino-Paisán L, Mena J, Antigüedad A, Urbaneja-Romero P, Ortega-Pinazo J, Song W, Sadovnick AD. Vilariño-Güell C, et al. Among authors: reinthaler em. PLoS Genet. 2019 Jun 6;15(6):e1008180. doi: 10.1371/journal.pgen.1008180. eCollection 2019 Jun. PLoS Genet. 2019. PMID: 31170158 Free PMC article.
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.
30 results