Literature DB >> 14985381

Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3.

E Nelis, J Berciano, N Verpoorten, K Coen, I Dierick, V Van Gerwen, O Combarros, P De Jonghe, V Timmerman.   

Abstract

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Year:  2004        PMID： 14985381      PMCID： PMC1735709          DOI： 10.1136/jmg.2003.012633

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy.

Authors:  Kazuki Kijima; Chikahiko Numakura; Tomohide Goto; Takao Takahashi; Tesshu Otagiri; Kazuo Umetsu; Kiyoshi Hayasaka
Journal:  J Hum Genet       Date:  2005-09-10       Impact factor: 3.172

Review 2.  Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.

Authors:  Stephan Züchner; Jeffery M Vance
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

Review 3.  Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.

Authors:  Senda Ajroud-Driss; Han-Xiang Deng; Teepu Siddique
Journal:  Curr Neurol Neurosci Rep       Date:  2011-06       Impact factor: 5.081

4.  Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.

Authors:  Kazuki Kijima; Chikahiko Numakura; Hiroko Izumino; Kazuo Umetsu; Atsuo Nezu; Toshihide Shiiki; Masafumi Ogawa; Yoshito Ishizaki; Takeshi Kitamura; Yasunobu Shozawa; Kiyoshi Hayasaka
Journal:  Hum Genet       Date:  2004-11-11       Impact factor: 4.132

5.  Accumulation of endogenous LITAF in aggresomes.

Authors:  Heather E Eaton; Julie Metcalf; Andressa Ferreira Lacerda; Craig R Brunetti
Journal:  PLoS One       Date:  2012-01-19       Impact factor: 3.240
  5 in total

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