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Duplication in chromosome 17p11. 2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a) P Raeymaekers, V Timmerman, E Nelis, P De Jonghe, JE Hoogenduk, ... Neuromuscular disorders 1 (2), 93-97, 1991 | 752 | 1991 |
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy OV Evgrafov, I Mersiyanova, J Irobi, L Van Den Bosch, I Dierick, CL Leung, ... Nature genetics 36 (6), 602-606, 2004 | 749 | 2004 |
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Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy K Verhoeven, P De Jonghe, K Coen, N Verpoorten, M Auer-Grumbach, ... The American Journal of Human Genetics 72 (3), 722-727, 2003 | 559 | 2003 |
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Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy J Irobi, KV Impe, P Seeman, A Jordanova, I Dierick, N Verpoorten, ... Nature genetics 36 (6), 597-601, 2004 | 508 | 2004 |
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