Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect
about
Dominant GDAP1 mutations cause predominantly mild CMT phenotypesA novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth diseaseA frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathyLack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathyCell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A diseaseThe mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in TaiwanCharcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cellsTwo novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family.Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.Inherited peripheral neuropathies.Association of single nucleotide polymorphism rs2076185 in chromosome 6P24.1 with premature coronary artery diseases in Chinese Han populationCharcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.Peripheral neuropathy associated with mitochondrial disease in children.Demyelinating prenatal and infantile developmental neuropathies.Neural and molecular features on Charcot-Marie-Tooth disease plasticity and therapy.A review of genetic counseling for Charcot Marie Tooth disease (CMT).Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Neurogenetic disorders in the Basque population.Disturbed mitochondrial dynamics and neurodegenerative disorders.Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration.Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 geneCharcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.Late onset autosomal dominant Charcot-Marie-Tooth 2 neuropathy in a Costa Rican family.MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.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
P2860
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P2860
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect
description
2005 nî lūn-bûn
@nan
2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Genetics of Charcot-Marie-Toot ...... ariability, and founder effect
@ast
Genetics of Charcot-Marie-Toot ...... ariability, and founder effect
@en
Genetics of Charcot-Marie-Toot ...... ariability, and founder effect
@nl
type
label
Genetics of Charcot-Marie-Toot ...... ariability, and founder effect
@ast
Genetics of Charcot-Marie-Toot ...... ariability, and founder effect
@en
Genetics of Charcot-Marie-Toot ...... ariability, and founder effect
@nl
prefLabel
Genetics of Charcot-Marie-Toot ...... ariability, and founder effect
@ast
Genetics of Charcot-Marie-Toot ...... ariability, and founder effect
@en
Genetics of Charcot-Marie-Toot ...... ariability, and founder effect
@nl
P2093
P50
P356
P1476
Genetics of Charcot-Marie-Toot ...... ariability, and founder effect
@en
P2093
A López de Munain
B Sánchez-Navarro
J Berciano
J J Vílchez
J M Millán
J R Lupski
R Claramunt
P304
P356
10.1136/JMG.2004.022178
P407
P577
2005-04-01T00:00:00Z