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De novo mutations in SOD1 are a cause of ALS.
Müller K, Oh KW, Nordin A, Panthi S, Kim SH, Nordin F, Freischmidt A, Ludolph AC, Ki CS, Forsberg K, Weishaupt J, Kim YE, Andersen PM. Müller K, et al. Among authors: ludolph ac. J Neurol Neurosurg Psychiatry. 2022 Feb;93(2):201-206. doi: 10.1136/jnnp-2021-327520. Epub 2021 Sep 13. J Neurol Neurosurg Psychiatry. 2022. PMID: 34518333 Free PMC article.
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, Lemmens R, Schelhaas HJ, Groen EJ, Huisman MH, van der Kooi AJ, de Visser M, Dahlberg C, Estrada K, Rivadeneira F, Hofman A, Zwarts MJ, van Doormaal PT, Rujescu D, Strengman E, Giegling I, Muglia P, Tomik B, Slowik A, Uitterlinden AG, Hendrich C, Waibel S, Meyer T, Ludolph AC, Glass JD, Purcell S, Cichon S, Nöthen MM, Wichmann HE, Schreiber S, Vermeulen SH, Kiemeney LA, Wokke JH, Cronin S, McLaughlin RL, Hardiman O, Fumoto K, Pasterkamp RJ, Meininger V, Melki J, Leigh PN, Shaw CE, Landers JE, Al-Chalabi A, Brown RH Jr, Robberecht W, Andersen PM, Ophoff RA, van den Berg LH. van Es MA, et al. Among authors: ludolph ac. Nat Genet. 2009 Oct;41(10):1083-7. doi: 10.1038/ng.442. Epub 2009 Sep 6. Nat Genet. 2009. PMID: 19734901
809 results