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Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
Erdmann H, Scharf F, Gehling S, Benet-Pagès A, Jakubiczka S, Becker K, Seipelt M, Kleefeld F, Knop KC, Prott EC, Hiebeler M, Montagnese F, Gläser D, Vorgerd M, Hagenacker T, Walter MC, Reilich P, Neuhann T, Zenker M, Holinski-Feder E, Schoser B, Abicht A. Erdmann H, et al. Among authors: neuhann t. Brain. 2023 Apr 19;146(4):1388-1402. doi: 10.1093/brain/awac336. Brain. 2023. PMID: 36100962
Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.
Erdmann H, Schöberl F, Giurgiu M, Leal Silva RM, Scholz V, Scharf F, Wendlandt M, Kleinle S, Deschauer M, Nübling G, Heide W, Babacan SS, Schneider C, Neuhann T, Hahn K, Schoser B, Holinski-Feder E, Wolf DA, Abicht A. Erdmann H, et al. Among authors: neuhann t. Brain. 2023 May 2;146(5):1831-1843. doi: 10.1093/brain/awac377. Brain. 2023. PMID: 36227727
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A. Di Donato N, et al. Among authors: neuhann t, neuhann i. J Med Genet. 2016 Jun;53(6):419-25. doi: 10.1136/jmedgenet-2015-103511. Epub 2016 Feb 3. J Med Genet. 2016. PMID: 26843489
156 results