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Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25.
Meulemann J, Kuhlenbäumer G, Schirmacher A, Wehnert M, De Jonghe P, De Vriendt E, Young P, Airaksinen E, Pou-Serradell A, Prats JM, Ringelstein B, Stögbauer F, Van Broeckhoven C, Timmerman V. Meulemann J, et al. Among authors: schirmacher a. Eur J Hum Genet. 1999 Dec;7(8):920-7. doi: 10.1038/sj.ejhg.5200384. Eur J Hum Genet. 1999. PMID: 10602368
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: schirmacher a. Nat Genet. 2005 Oct;37(10):1044-6. doi: 10.1038/ng1649. Epub 2005 Sep 25. Nat Genet. 2005. PMID: 16186812
Mutation analysis of a putative sialyltransferase gene, the SFRS2 splicing factor gene and the c-myb ET-locus in two families with hereditary neuralgic amyotrophy (HNA).
Kuhlenbaeumer G, Meuleman J, Schirmacher A, Stoegbauer F, Ringelstein EB, Wehnert M, Hoeltzenbein M, Broeckhoven CV, Timmerman V. Kuhlenbaeumer G, et al. Among authors: schirmacher a. Ann Hum Genet. 1998 Sep;62(Pt 5):397-400. doi: 10.1046/j.1469-1809.1998.6250397.x. Ann Hum Genet. 1998. PMID: 10088036
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: schirmacher a. Ann N Y Acad Sci. 1999 Sep 14;883:443-4. Ann N Y Acad Sci. 1999. PMID: 10586268 No abstract available.
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: schirmacher a. Ann N Y Acad Sci. 1999 Oct;883(1):443-444. doi: 10.1111/j.1749-6632.1999.tb08605.x. Ann N Y Acad Sci. 1999. PMID: 29086982 No abstract available.
Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene.
Appenzeller S, Schirmacher A, Halfter H, Bäumer S, Pendziwiat M, Timmerman V, De Jonghe P, Fekete K, Stögbauer F, Lüdemann P, Hund M, Quabius ES, Ringelstein EB, Kuhlenbäumer G. Appenzeller S, et al. Among authors: schirmacher a. Am J Hum Genet. 2010 Jan;86(1):83-7. doi: 10.1016/j.ajhg.2009.12.003. Am J Hum Genet. 2010. PMID: 20085714 Free PMC article.
Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14.
Kuhlenbäumer G, Lüdemann P, Schirmacher A, De Vriendt E, Hünermund G, Young P, Hund-Georgiadis M, Schuierer G, Möller H, Ringelstein EB, Van Broeckhoven C, Timmerman V, Stögbauer F. Kuhlenbäumer G, et al. Among authors: schirmacher a. Neurology. 2004 Jun 22;62(12):2203-8. doi: 10.1212/01.wnl.0000130485.89814.10. Neurology. 2004. PMID: 15210883
58 results