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All publications related to disease Charcot-Marie-Tooth disease type 1. To link directly to a specific first author surname click on the required letter below.
ABJSY A Abe A, Numakura C, Saito K, Koide H, Oka N, Honma A, Kishikawa Y, Hayasaka K
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.
J Hum Genet 2009 54(2) 94-97 PubMed: 19158810 Back to index B Bhagavati S, Maccabee PJ, Xu W
The neurofilament light chain gene (NEFL) mutation Pro22Ser can be associated with mixed axonal and demyelinating neuropathy.
J Clin Neurosci 2009 () - PubMed: 19286384 Back to index J Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Brain 2003 126(Pt 3) 590-597 PubMed: 12566280 Back to index S Shin JS, Chung KW, Cho SY, Yun J, Hwang SJ, Kang SH, Cho EM, Kim SM, Choi BO
NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.
J Hum Genet 2008 53(10) 936-940 PubMed: 18758688 Back to index Y Yoshihara T, Yamamoto M, Hattori N, Misu K, Mori K, Koike H, Sobue G
Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals.
J Peripher Nerv Syst 2002 7(4) 221-224 PubMed: 12477167 Back to index This page was last modified: April 17 2009 14:28:35. |
