Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes-Reference-Cited by-同舟云学术

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Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes

Published:2013-06 Issue:2 Volume:18 Page:113-129
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Tazir Meriem¹²,Bellatache Mounia¹²,Nouioua Sonia¹²,Vallat Jean-Michel³

Affiliation:

1. Service de Neurologie; University Hospital Mustapha Bacha; Alger Algeria

2. Laboratoire de NeuroSciences; Université d'Alger 1; Alger Algeria

3. Centre de Référence ⟨Neuropathies Périphériques Rares⟩, Service et Laboratoire de Neurologie; University Hospital; Limoges France

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jns5.12026/fullpdf

Reference117 articles.

1. Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype;Abe;J Hum Genet,2009

2. SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system;Arnaud;Proc Natl Acad Sci USA,2009

3. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma;Azzedine;Am J Hum Genet,2003

4. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations;Azzedine;Neurology,2006

5. Genetic spectrum of hereditary neuropathies with onset in the first year of life;Baets;Brain,2011

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