Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes (Q38115571)

29 August 2017

title

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

1 reference

29 August 2017

Meriem Tazir

1

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29 August 2017

Mounia Bellatache

series ordinal

2

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29 August 2017

Sonia Nouioua

series ordinal

3

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29 August 2017

Jean-Michel Vallat

series ordinal

4

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29 August 2017

publication date

1 June 2013

1 reference

Journal of the Peripheral Nervous System

29 August 2017

published in

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29 August 2017

volume

18

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29 August 2017

issue

2

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29 August 2017

page(s)

113-129

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SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

29 August 2017

cites work

1 reference

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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

21 January 2018

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Genetic spectrum of hereditary neuropathies with onset in the first year of life

21 January 2018

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Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).

21 January 2018

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https://api.crossref.org/works/10.1111%2FJNS5.12026

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

21 January 2018

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Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

21 January 2018

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Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJNS5.12026

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJNS5.12026

The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

21 January 2018

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https://api.crossref.org/works/10.1111%2FJNS5.12026

CMT4A: identification of a Hispanic GDAP1 founder mutation

21 January 2018

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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJNS5.12026

Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination

21 January 2018

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https://api.crossref.org/works/10.1111%2FJNS5.12026

A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJNS5.12026

Human laminopathies: nuclei gone genetically awry

21 January 2018

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https://api.crossref.org/works/10.1111%2FJNS5.12026

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.

21 January 2018

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Congenital absence of peripheral myelin: abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita

21 January 2018

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https://api.crossref.org/works/10.1111%2FJNS5.12026

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

21 January 2018

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https://api.crossref.org/works/10.1111%2FJNS5.12026

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Autosomal recessive forms of hereditary motor and sensory neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Four novel cases of periaxin-related neuropathy and review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Clinicopathological and genetic study of early-onset demyelinating neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Autosomal-recessive Charcot-Marie-Tooth diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

Peripheral Myelin Maintenance Is a Dynamic Process Requiring Constant Krox20 Expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJNS5.12026

21 January 2018

Identifiers

DOI

10.1111/JNS5.12026

1 reference

29 August 2017

1 reference