Charcot-Marie-Tooth disease

A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

(2010) Philippe Latour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

(2010) Magdalena Zimoń et al.   BRAIN

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

(2010) H. Skre   CLINICAL GENETICS

Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement

(2010) K. W. Chung et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

SEVERE CMT TYPE 2 WITH FATAL ENCEPHALOPATHY ASSOCIATED WITH A NOVEL MFN2 SPLICING MUTATION

(2010) F. Boaretto et al.   NEUROLOGY

A novel recessiveNeflmutation causes a severe, early-onset axonal neuropathy

(2009) Sabrina W. Yum et al.   ANNALS OF NEUROLOGY

A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR)

(2009) Janina Hantke et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease

(2009) Dana Brožková et al.   Genetic Testing and Molecular Biomarkers

Neurofilament light chain polypeptide gene mutations in Charcot–Marie–Tooth disease: nonsense mutation probably causes a recessive phenotype

(2009) Akiko Abe et al.   JOURNAL OF HUMAN GENETICS

GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment

(2009) A W Michell et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Diagnosis and new treatments in genetic neuropathies

(2009) M M Reilly et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

(2009) Davide Pareyson et al.   LANCET NEUROLOGY

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

(2009) Alejandro Leal et al.   NEUROGENETICS

A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H

(2009) H. Houlden et al.   NEUROLOGY

The phenotype of Charcot–Marie–Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy

(2009) Henry Houlden et al.   NEUROMUSCULAR DISORDERS

A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease

(2008) Ki Wha Chung et al.   JOURNAL OF HUMAN GENETICS

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

(2008) H. Houlden et al.   NEUROLOGY