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De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium; Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J. Van de Vondel L, et al. Among authors: uysal h. Mov Disord. 2022 Jun;37(6):1175-1186. doi: 10.1002/mds.28959. Epub 2022 Feb 12. Mov Disord. 2022. PMID: 35150594 Free PMC article.
Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA.
Arikan Y, Berker Karauzum S, Uysal H, Mihci E, Nur B, Duman O, Haspolat S, Altiok Clark O, Toylu A. Arikan Y, et al. Among authors: uysal h. Gene. 2022 May 20;823:146322. doi: 10.1016/j.gene.2022.146322. Epub 2022 Feb 25. Gene. 2022. PMID: 35219815
Flunarizine-induced fasciculation-myokymia.
Kizilay F, Ekmekci B, Gungor H, Uysal H, Oh SJ. Kizilay F, et al. Among authors: uysal h. J Clin Neuromuscul Dis. 2011 Jun;12(4):246-7. doi: 10.1097/CND.0b013e31821a2507. J Clin Neuromuscul Dis. 2011. PMID: 22361525 No abstract available.
227 results