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Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
Kuhlenbäumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, Watts GD, De Vriendt E, Young P, Stögbauer F, Halfter H, Irobi J, Goossens D, Del-Favero J, Betz BG, Hor H, Kurlemann G, Bird TD, Airaksinen E, Mononen T, Serradell AP, Prats JM, Van Broeckhoven C, De Jonghe P, Timmerman V, Ringelstein EB, Chance PF. Kuhlenbäumer G, et al. Among authors: nelis e. Nat Genet. 2005 Oct;37(10):1044-6. doi: 10.1038/ng1649. Epub 2005 Sep 25. Nat Genet. 2005. PMID: 16186812
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreëls-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V. Nelis E, et al. Neurology. 2002 Dec 24;59(12):1865-72. doi: 10.1212/01.wnl.0000036272.36047.54. Neurology. 2002. PMID: 12499475
86 results