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Page 1
Rare variants in ANO3 are not a susceptibility factor in essential tremor.
Hopfner F, Bungeroth M, Pendziwiat M, Tittmann L, Deuschl G, Schneider SA, Kuhlenbäumer G. Hopfner F, et al. Among authors: pendziwiat m. Parkinsonism Relat Disord. 2014 Jan;20(1):134-5. doi: 10.1016/j.parkreldis.2013.09.022. Epub 2013 Sep 27. Parkinsonism Relat Disord. 2014. PMID: 24094724 No abstract available.
Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene.
Appenzeller S, Schirmacher A, Halfter H, Bäumer S, Pendziwiat M, Timmerman V, De Jonghe P, Fekete K, Stögbauer F, Lüdemann P, Hund M, Quabius ES, Ringelstein EB, Kuhlenbäumer G. Appenzeller S, et al. Among authors: pendziwiat m. Am J Hum Genet. 2010 Jan;86(1):83-7. doi: 10.1016/j.ajhg.2009.12.003. Am J Hum Genet. 2010. PMID: 20085714 Free PMC article.
No association between polymorphisms in the glutamate transporter SLC1A2 and Parkinson's disease.
Appenzeller S, Schulte C, Thier S, Hopfner F, Pendziwiat M, Papengut F, Klein C, Hagenah J, Kasten M, Srulijes K, Berg D, Gasser T, Singleton A, Deuschl G, Kuhlenbäumer G. Appenzeller S, et al. Among authors: pendziwiat m. Mov Disord. 2013 Aug;28(9):1305-6. doi: 10.1002/mds.25330. Epub 2013 Feb 6. Mov Disord. 2013. PMID: 23390085 Free PMC article. No abstract available.
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: pendziwiat m. 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
The impact of rare variants in FUS in essential tremor.
Hopfner F, Stevanin G, Müller SH, Mundwiller E, Bungeroth M, Durr A, Pendziwiat M, Anheim M, Schneider SA, Tittmann L, Klebe S, Lorenz D, Deuschl G, Brice A, Kuhlenbäumer G. Hopfner F, et al. Among authors: pendziwiat m. Mov Disord. 2015 Apr 15;30(5):721-4. doi: 10.1002/mds.26145. Epub 2015 Jan 28. Mov Disord. 2015. PMID: 25631824
Genome-wide association study in essential tremor identifies three new loci.
Müller SH, Girard SL, Hopfner F, Merner ND, Bourassa CV, Lorenz D, Clark LN, Tittmann L, Soto-Ortolaza AI, Klebe S, Hallett M, Schneider SA, Hodgkinson CA, Lieb W, Wszolek ZK, Pendziwiat M, Lorenzo-Betancor O, Poewe W, Ortega-Cubero S, Seppi K, Rajput A, Hussl A, Rajput AH, Berg D, Dion PA, Wurster I, Shulman JM, Srulijes K, Haubenberger D, Pastor P, Vilariño-Güell C, Postuma RB, Bernard G, Ladwig KH, Dupré N, Jankovic J, Strauch K, Panisset M, Winkelmann J, Testa CM, Reischl E, Zeuner KE, Ross OA, Arzberger T, Chouinard S, Deuschl G, Louis ED, Kuhlenbäumer G, Rouleau GA. Müller SH, et al. Among authors: pendziwiat m. Brain. 2016 Dec;139(Pt 12):3163-3169. doi: 10.1093/brain/aww242. Epub 2016 Oct 20. Brain. 2016. PMID: 27797806 Free PMC article.
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: pendziwiat m. 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.
65 results