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Page 1
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
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
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.
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS, Dahl HH, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, Doherty CP, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Zumsteg D, Duncan S, Kälviäinen RK, Eriksson KJ, Kantanen AM, Pandolfo M, Gruber-Sedlmayr U, Schlachter K, Reinthaler EM, Stogmann E, Zimprich F, Théâtre E, Smith C, O'Brien TJ, Meng Tan K, Petrovski S, Robbiano A, Paravidino R, Zara F, Striano P, Sperling MR, Buono RJ, Hakonarson H, Chaves J, Costa PP, Silva BM, da Silva AM, de Graan PN, Koeleman BP, Becker A, Schoch S, von Lehe M, Reif PS, Rosenow F, Becker F, Weber Y, Lerche H, Rössler K, Buchfelder M, Hamer HM, Kobow K, Coras R, Blumcke I, Scheffer IE, Berkovic SF, Weale ME; UK Brain Expression Consortium; Delanty N, Depondt C, Cavalleri GL, Kunz WS, Sisodiya SM. Kasperaviciute D, et al. Among authors: reinthaler em. Brain. 2013 Oct;136(Pt 10):3140-50. doi: 10.1093/brain/awt233. Epub 2013 Sep 6. Brain. 2013. PMID: 24014518 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.
30 results