相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations
J. M. Polke et al.
NEUROLOGY (2011)
Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation
Sinead M. Murphy et al.
NEUROMUSCULAR DISORDERS (2011)
Genetic and clinical aspects of Charcot-Marie-Tooth's disease
H. Skre
CLINICAL GENETICS (2010)
Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C
Rhys C. Roberts et al.
HUMAN MOLECULAR GENETICS (2010)
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
Guida Landoure et al.
NATURE GENETICS (2010)
Charcot-Marie-Tooth disease
Kinga Szigeti et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway
Vincenzo Lupo et al.
HUMAN MOLECULAR GENETICS (2009)
The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy
Henry Houlden et al.
NEUROMUSCULAR DISORDERS (2009)
Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF
Wanda Maria Gerding et al.
NEUROMUSCULAR DISORDERS (2009)
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system
Estelle Arnaud et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster
Isabelle Gosselin et al.
NEUROMUSCULAR DISORDERS (2008)
Spinal deformities in hereditary motor and sensory neuropathy - A retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients
Ondrej Horacek et al.
SPINE (2007)
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
Clement Y. Chow et al.
NATURE (2007)
Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H
Valerie Delague et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4
R. Claramunt et al.
CLINICAL GENETICS (2007)
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families
Ahmed Bouhouche et al.
BRAIN (2007)
NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement
Andoni Echaniz-Laguna et al.
NEUROMUSCULAR DISORDERS (2007)
Dispersion of compound muscle action potential in hereditary neuropathies and chronic inflammatory demyelinating polyneuropathy
Michael Stanton et al.
MUSCLE & NERVE (2006)
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations
H. Azzedine et al.
NEUROLOGY (2006)
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2
Jaume Colomer et al.
NEUROMUSCULAR DISORDERS (2006)
A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes
R Gooding et al.
JOURNAL OF MEDICAL GENETICS (2005)
Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations
WIM Verhagen et al.
OTOLOGY & NEUROTOLOGY (2005)
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene
T Sevilla et al.
BRAIN (2003)
Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145→Ser)
A Starr et al.
BRAIN (2003)
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
H Azzedine et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15
J Senderek et al.
HUMAN MOLECULAR GENETICS (2003)
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
J Senderek et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Dispersion of the distal compound muscle action potential as a diagnostic criterion for chronic inflammatory demyelinating polyneuropathy
P Thaisetthawatkul et al.
NEUROLOGY (2002)
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
A Cuesta et al.
NATURE GENETICS (2002)
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
RV Baxter et al.
NATURE GENETICS (2002)
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease
O Dubourg et al.
BRAIN (2001)
The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity
O Dubourg et al.
NEUROMUSCULAR DISORDERS (2001)
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease
A Guilbot et al.
HUMAN MOLECULAR GENETICS (2001)
N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom
L Kalaydjieva et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
A Bolino et al.
NATURE GENETICS (2000)
分享论文
