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Page 1
Emerging pathways for hereditary axonopathies.
Züchner S, Vance JM. Züchner S, et al. Among authors: vance jm. J Mol Med (Berl). 2005 Dec;83(12):935-43. doi: 10.1007/s00109-005-0694-9. Epub 2005 Aug 31. J Mol Med (Berl). 2005. PMID: 16133422 Review.
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, Bird T, Timmerman V, Shy M, Vance JM. Züchner S, et al. Among authors: vance jm. Ann Neurol. 2006 Feb;59(2):276-81. doi: 10.1002/ana.20797. Ann Neurol. 2006. PMID: 16437557
Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.
McCorquodale DS 3rd, Montenegro G, Peguero A, Carlson N, Speziani F, Price J, Taylor SW, Melanson M, Vance JM, Züchner S. McCorquodale DS 3rd, et al. Among authors: vance jm. J Neurol. 2011 Jul;258(7):1234-9. doi: 10.1007/s00415-011-5910-7. Epub 2011 Jan 22. J Neurol. 2011. PMID: 21258814 Free PMC article.
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
McLaughlin HM, Sakaguchi R, Giblin W; NISC Comparative Sequencing Program; Wilson TE, Biesecker L, Lupski JR, Talbot K, Vance JM, Züchner S, Lee YC, Kennerson M, Hou YM, Nicholson G, Antonellis A. McLaughlin HM, et al. Among authors: vance jm. Hum Mutat. 2012 Jan;33(1):244-53. doi: 10.1002/humu.21635. Epub 2011 Nov 9. Hum Mutat. 2012. PMID: 22009580 Free PMC article.
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C, Van Coster R, Goemans N, Auer-Grumbach M, Robberecht W, Milic Rasic V, Nevo Y, Tournev I, Guergueltcheva V, Roelens F, Vieregge P, Vinci P, Moreno MT, Christen HJ, Shy ME, Lupski JR, Vance JM, De Jonghe P, Timmerman V. Verhoeven K, et al. Among authors: vance jm. Brain. 2006 Aug;129(Pt 8):2093-102. doi: 10.1093/brain/awl126. Epub 2006 May 19. Brain. 2006. PMID: 16714318
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. Among authors: vance jm. Nat Genet. 2004 May;36(5):449-51. doi: 10.1038/ng1341. Epub 2004 Apr 4. Nat Genet. 2004. PMID: 15064763 No abstract available.
294 results