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Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome.
Helbig I, Barcia G, Pendziwiat M, Ganesan S, Mueller SH, Helbig KL, Vaidiswaran P, Xian J, Galer PD, Afawi Z, Specchio N, Kluger G, Kuhlenbäumer G, Appenzeller S, Wittig M, Kramer U, van Baalen A, Nabbout R; FIRES Genetics Study Group. Helbig I, et al. Among authors: appenzeller s. Ann Clin Transl Neurol. 2020 Aug;7(8):1429-1435. doi: 10.1002/acn3.51062. Epub 2020 Jul 14. Ann Clin Transl Neurol. 2020. PMID: 32666661 Free PMC article.
Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor.
Thier S, Lorenz D, Nothnagel M, Poremba C, Papengut F, Appenzeller S, Paschen S, Hofschulte F, Hussl AC, Hering S, Poewe W, Asmus F, Gasser T, Schöls L, Christensen K, Nebel A, Schreiber S, Klebe S, Deuschl G, Kuhlenbäumer G. Thier S, et al. Among authors: appenzeller s. Neurology. 2012 Jul 17;79(3):243-8. doi: 10.1212/WNL.0b013e31825fdeed. Epub 2012 Jul 3. Neurology. 2012. PMID: 22764253 Free PMC article.
No association between NOD2 variants and Parkinson's disease.
Appenzeller S, Thier S, Papengut F, Klein C, Hagenah J, Kasten M, Berg D, Srulijes K, Gasser T, Schreiber S, Deuschl G, Kuhlenbäumer G. Appenzeller S, et al. Mov Disord. 2012 Aug;27(9):1191-2. doi: 10.1002/mds.25059. Epub 2012 Jul 13. Mov Disord. 2012. PMID: 22807259 No abstract available.
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium. Suls A, et al. Am J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207121 Free PMC article.
Differential aggregation properties of alpha-synuclein isoforms.
Bungeroth M, Appenzeller S, Regulin A, Völker W, Lorenzen I, Grötzinger J, Pendziwiat M, Kuhlenbäumer G. Bungeroth M, et al. Among authors: appenzeller s. Neurobiol Aging. 2014 Aug;35(8):1913-9. doi: 10.1016/j.neurobiolaging.2014.02.009. Epub 2014 Feb 19. Neurobiol Aging. 2014. PMID: 24629672
Mutations in HTRA2 are not a common cause of familial classic ET.
Hopfner F, Müller SH, Lorenz D, Appenzeller S, Klebe S, Deuschl G, Kuhlenbäumer G. Hopfner F, et al. Among authors: appenzeller s. Mov Disord. 2015 Jul;30(8):1149-50. doi: 10.1002/mds.26252. Epub 2015 May 13. Mov Disord. 2015. PMID: 25970799 No abstract available.
324 results