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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: young p. Nat Genet. 2005 Oct;37(10):1044-6. doi: 10.1038/ng1649. Epub 2005 Sep 25. Nat Genet. 2005. PMID: 16186812
Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous.
Kuhlenbäumer G, Meuleman J, De Jonghe P, Falck B, Young P, Hünermund G, Van Broeckhoven C, Timmerman V, Stögbauer F. Kuhlenbäumer G, et al. Among authors: young p. J Neurol. 2001 Oct;248(10):861-5. doi: 10.1007/s004150170070. J Neurol. 2001. PMID: 11697522
[Hereditary neural amyotrophy (HNA): clinical and molecular genetic basis].
Stögbauer F, Young P, Kuhlenbäumer G, Meuleman J, Timmerman V, van Broeckhoven C, Kurlemann G, Ringelstein EB. Stögbauer F, et al. Among authors: young p. Fortschr Neurol Psychiatr. 1998 Jan;66(1):10-4. doi: 10.1055/s-2007-995234. Fortschr Neurol Psychiatr. 1998. PMID: 9530552 German.
Recurrent brachial plexus palsies as the only clinical expression of hereditary neuropathy with liability to pressure palsies associated with a de novo deletion of the peripheral myelin protein-22 gene.
Stögbauer F, Young P, Kerschensteiner M, Ringelstein EB, Assmann G, Funke H. Stögbauer F, et al. Among authors: young p. Muscle Nerve. 1998 Sep;21(9):1199-201. doi: 10.1002/(sici)1097-4598(199809)21:9<1199::aid-mus12>3.0.co;2-n. Muscle Nerve. 1998. PMID: 9703447
Hereditary neuralgic amyotrophy: mutation analysis of candidate genes.
Meuleman J, Kuhlenbäumer G, Schirmacher A, Wehnert M, Young P, Stögbauer F, Ringelstein EB, Van Broeckhoven C, Timmerman V. Meuleman J, et al. Among authors: young p. Ann N Y Acad Sci. 1999 Sep 14;883:443-4. Ann N Y Acad Sci. 1999. PMID: 10586268 No abstract available.
3,589 results