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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battaloglu E, Polyakov AV, Timmerman V, Schröder JM, Vance JM. Züchner S, et al. Nat Genet. 2004 May;36(5):449-51. doi: 10.1038/ng1341. Epub 2004 Apr 4. Nat Genet. 2004. PMID: 15064763 No abstract available.
Increased expression of CNTF receptor alpha in denervated human skeletal muscle.
Weis J, Lie DC, Ragoss U, Züchner SL, Schröder JM, Karpati G, Farruggella T, Stahl N, Yancopoulos GD, DiStefano PS. Weis J, et al. Among authors: zuchner sl. J Neuropathol Exp Neurol. 1998 Sep;57(9):850-7. doi: 10.1097/00005072-199809000-00006. J Neuropathol Exp Neurol. 1998. PMID: 9737548
Hypertrophic nerve roots in a case of Roussy-Lévy syndrome.
Haubrich C, Krings T, Senderek J, Züchner S, Schröder JM, Noth J, Töpper R. Haubrich C, et al. Among authors: zuchner s. Neuroradiology. 2002 Nov;44(11):933-7. doi: 10.1007/s00234-002-0847-2. Epub 2002 Aug 24. Neuroradiology. 2002. PMID: 12428130
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Müller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schöneborn S, Züchner S, Michael Schröder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Büttner R, Nelis E, Zerres K. Senderek J, et al. Among authors: zuchner s. Am J Hum Genet. 2003 Nov;73(5):1106-19. doi: 10.1086/379525. Epub 2003 Oct 21. Am J Hum Genet. 2003. PMID: 14574644 Free PMC article.
431 results