(Q34981298)

5 August 2017

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title

Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy (English)

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demyelinating polyneuropathy

5 August 2017

main subject

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Violaine Planté-Bordeneuve

series ordinal

1

object named as

Violaine Plante-Bordeneuve

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author name string

Violaine Plante-Bordeneuve

series ordinal

1

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5 August 2017

Gérard Said

series ordinal

2

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5 August 2017

publication date

1 November 2002

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5 August 2017

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5 August 2017

volume

26

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5 August 2017

issue

5

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5 August 2017

page(s)

608-621

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

5 August 2017

cites work

1 reference

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

21 January 2018

1 reference

Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.

21 January 2018

1 reference

EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy

21 January 2018

1 reference

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

21 January 2018

1 reference

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

21 January 2018

1 reference

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

21 January 2018

1 reference

Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy

21 January 2018

1 reference

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

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

T>C transition in codon 72 (TCG-->CCG), S72P, a putative hotspot in PMP22.

21 January 2018

1 reference

Novel mutation of the P0 extracellular domain causes a Déjérine-Sottas syndrome

21 January 2018

1 reference

Hereditary demyelinating motor and sensory neuropathy

21 January 2018

1 reference

Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths.

21 January 2018

1 reference

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

Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice

21 January 2018

1 reference

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

21 January 2018

1 reference

Congenital hypomyelinating neuropathy

21 January 2018

1 reference

Autosomal recessive forms of hereditary motor and sensory neuropathy

21 January 2018

1 reference

De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

21 January 2018

1 reference

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

Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings.

21 January 2018

1 reference

A case of congenital hypomyelination neuropathy. Clinical, morphological, and chemical studies

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.

21 January 2018

1 reference

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

Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype

21 January 2018

1 reference

Genetically determined neuropathies

21 January 2018

1 reference

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

21 January 2018

1 reference

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

21 January 2018

1 reference

Krox-20 controls myelination in the peripheral nervous system

21 January 2018

1 reference

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

21 January 2018

1 reference

An electron microscopic study of hypertrophic neuropathy of Dejerine and Sottas

21 January 2018

1 reference

Phe 84 deletion of the PMP22 gene associated with hereditary motor and sensory neuropathy HMSN III with multiple cranial neuropathy: clinical, neurophysiological and magnetic resonance imaging findings

21 January 2018

1 reference

THE HYPERTROPHIC FORMS OF HEREDITARY MOTOR AND SENSORY NEUROPATHY

21 January 2018

1 reference

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

21 January 2018

1 reference

Physical and Genetic Mapping of the CMT4A Locus and Exclusion of PMP-2 as the Defect in CMT4A

21 January 2018

1 reference

Hereditary motor and sensory neuropathy – Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries

21 January 2018

1 reference

Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families

21 January 2018

1 reference

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

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene

21 January 2018

1 reference

Observations on the syndrome of hypertrophic neuritis (the hypertrophic interstitial radiculo-neuropathies)

21 January 2018

1 reference

The electrophysiologic profile of Dejerine-Sottas disease (HMSN III)

21 January 2018

1 reference

Clinicopathologic findings and prognosis of chronic inflammatory demyelinating polyneuropathy

21 January 2018

1 reference

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations

21 January 2018

1 reference

3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands

21 January 2018

1 reference

Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease

21 January 2018

1 reference

A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

21 January 2018

1 reference

Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene

21 January 2018

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A Dejerine-Sottas neuropathy family with a gene mapped on chromosome 8

21 January 2018

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Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene

21 January 2018

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Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease

21 January 2018

1 reference

Recessive Charcot-Marie-tooth disease

21 January 2018

1 reference

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

17p11.2 Duplication Is a Common Finding in Sporadic Cases of Charcot-Marie-Tooth Type 1

21 January 2018

1 reference

Congenital hypomyelination due to myelin protein zero Q215X mutation

21 January 2018

1 reference

Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72

21 January 2018

1 reference

Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies

21 January 2018

1 reference

RECURRENT HYPERTROPHIC NEURITIS.

21 January 2018

1 reference

Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1

21 January 2018

1 reference

Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding

21 January 2018

1 reference

Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22

21 January 2018

1 reference

Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease

21 January 2018

1 reference

The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases

21 January 2018

1 reference

Congenital hypomyelination neuropathy: decreased expression of the P2 protein in peripheral nerve with normal DNA sequence of the coding region

21 January 2018

1 reference

Mutations of the same sequence of the myelin P0 gene causing two different phenotypes

21 January 2018

1 reference

A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients

21 January 2018

1 reference

Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22

21 January 2018

1 reference

Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome

21 January 2018

1 reference

A small direct tandem duplication of the myelin protein zero gene in a patient with Dejerine-Sottas disease phenotype

21 January 2018

1 reference

Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy)

21 January 2018

1 reference

Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome

21 January 2018

1 reference

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation

21 January 2018

1 reference

Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case

21 January 2018

1 reference

Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MUS.10197

1 reference

5 August 2017

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