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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: 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.
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.
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.
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
CHD2 variants are a risk factor for photosensitivity in epilepsy.
Galizia EC, Myers CT, Leu C, de Kovel CG, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ruppert AK, Møller RS, Thiele H, Krause R, Schubert J, Lehesjoki AE, Nürnberg P, Lerche H; EuroEPINOMICS CoGIE Consortium; Palotie A, Coppola A, Striano S, Gaudio LD, Boustred C, Schneider AL, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggiotti P, Piccioli M, Parisi P, Cantonetti L, Sadleir LG, Mullen SA, Berkovic SF, Stephani U, Helbig I, Crawford AD, Esguerra CV, Kasteleijn-Nolst Trenité DG, Koeleman BP, Mefford HC, Scheffer IE, Sisodiya SM. Galizia EC, et al. Among authors: pendziwiat m. Brain. 2015 May;138(Pt 5):1198-207. doi: 10.1093/brain/awv052. Epub 2015 Mar 17. Brain. 2015. PMID: 25783594 Free PMC article.
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
Knaus A, Awaya T, Helbig I, Afawi Z, Pendziwiat M, Abu-Rachma J, Thompson MD, Cole DE, Skinner S, Annese F, Canham N, Schweiger MR, Robinson PN, Mundlos S, Kinoshita T, Munnich A, Murakami Y, Horn D, Krawitz PM. Knaus A, et al. Among authors: pendziwiat m. Hum Mutat. 2016 Aug;37(8):737-44. doi: 10.1002/humu.23006. Epub 2016 May 19. Hum Mutat. 2016. PMID: 27120253 Free PMC article.
63 results