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Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K, Martin JJ, Vasserman N, Tverskaya S, Polyakov A, Liem RK, Gettemans J, Robberecht W, De Jonghe P, Timmerman V. Evgrafov OV, et al. Among authors: wagner k. Nat Genet. 2004 Jun;36(6):602-6. doi: 10.1038/ng1354. Epub 2004 May 2. Nat Genet. 2004. PMID: 15122254
Clinical predominance of proximal upper limb weakness in CMT1A syndrome.
Auer-Grumbach M, Wagner K, Strasser-Fuchs S, Löscher WN, Fazekas F, Millner M, Hartung HP. Auer-Grumbach M, et al. Among authors: wagner k. Muscle Nerve. 2000 Aug;23(8):1243-9. doi: 10.1002/1097-4598(200008)23:8<1243::aid-mus13>3.0.co;2-z. Muscle Nerve. 2000. PMID: 10918262
Candidate region for Gilles de la Tourette syndrome at 7q31.
Kroisel PM, Petek E, Emberger W, Windpassinger C, Wladika W, Wagner K. Kroisel PM, et al. Among authors: wagner k. Am J Med Genet. 2001 Jul 1;101(3):259-61. doi: 10.1002/1096-8628(20010701)101:3<259::aid-ajmg1374>3.0.co;2-#. Am J Med Genet. 2001. PMID: 11424142
3,019 results