Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience-Reference-Cited by-同舟云学术

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Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience

Published:2016-05 Issue: Volume:144 Page:67-71
ISSN:0303-8467
Container-title:Clinical Neurology and Neurosurgery
language:en
Short-container-title:Clinical Neurology and Neurosurgery

Author:

Luigetti Marco,Fabrizi Gian Maria,Bisogni Giulia,Romano Angela,Taioli Federica,Ferrarini Moreno,Bernardo Daniela,Rossini Paolo Maria,Sabatelli Mario

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Surgery

Reference36 articles.

1. Glycyl tRNA synthetase mutations in Charcot-Marie–Tooth disease type 2D and distal spinal muscular atrophy type V;Antonellis;Am. J. Hum. Genet.,2003

2. Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations;Calvo;Arch. Neurol.,2009

3. HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients;Capponi;J. Peripher. Nerv. Syst.,2011

4. Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1);Fairweather;Hum. Mol. Genet.,1994

5. Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population;Gess;Neuromuscul. Disord.,2013

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