Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease (Q36507147)

14 August 2017

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title

Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease (English)

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14 August 2017

Dubourg O

1

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14 August 2017

Azzedine H

2

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14 August 2017

Verny C

3

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14 August 2017

Durosier G

4

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14 August 2017

Birouk N

5

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14 August 2017

Gouider R

6

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14 August 2017

Salih M

7

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14 August 2017

Bouhouche A

8

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14 August 2017

Thiam A

9

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14 August 2017

Grid D

10

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14 August 2017

Mayer M

11

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14 August 2017

Ruberg M

12

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14 August 2017

Tazir M

13

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14 August 2017

Brice A

14

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14 August 2017

LeGuern E

15

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14 August 2017

publication date

1 January 2006

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14 August 2017

published in

NeuroMolecular Medicine

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14 August 2017

volume

8

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14 August 2017

issue

1-2

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14 August 2017

page(s)

75-86

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Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter

14 August 2017

cites work

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Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene

21 January 2018

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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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HMSNL in a 13-year-old Bulgarian girl

21 January 2018

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Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3.

21 January 2018

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

21 January 2018

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Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.

21 January 2018

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Connexin mutations in X-linked Charcot-Marie-Tooth disease

21 January 2018

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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

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EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy

21 January 2018

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Periaxin mutations cause recessive Dejerine-Sottas neuropathy

21 January 2018

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Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation

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

21 January 2018

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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

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

21 January 2018

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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

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Periaxin, a novel protein of myelinating Schwann cells with a possible role in axonal ensheathment

21 January 2018

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The autosomal recessive form of CMT disease linked to 5q31-q33.

21 January 2018

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

21 January 2018

1 reference

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Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

21 January 2018

1 reference

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

21 January 2018

1 reference

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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/10.1385%2FNMM%3A8%3A1-2%3A75

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

21 January 2018

1 reference

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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

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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/10.1385%2FNMM%3A8%3A1-2%3A75

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/10.1385%2FNMM%3A8%3A1-2%3A75

Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A75

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

21 January 2018

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A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A75

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/10.1385%2FNMM%3A8%3A1-2%3A75

Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

21 January 2018

1 reference

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Screening of the early growth response 2 gene in Japanese patients with Charcot–Marie–Tooth disease type 1

21 January 2018

1 reference

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Ndrg1-deficient mice exhibit a progressive demyelinating disorder of peripheral nerves

21 January 2018

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Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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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/10.1385%2FNMM%3A8%3A1-2%3A75

The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease

21 January 2018

1 reference

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A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A75

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

21 January 2018

2 references

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A75

21 January 2018

12 December 2020

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

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A75

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/10.1385%2FNMM%3A8%3A1-2%3A75

Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A).

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A75

Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A75

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A75

Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A75

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A75

Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A75

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A75

A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A75

Hereditary motor and sensory neuropathy-russe: New autosomal recessive neuropathy in balkan gypsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A75

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A75

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/10.1385%2FNMM%3A8%3A1-2%3A75

4th Workshop of the European CMT-Consortium--62nd ENMC International Workshop: rare forms of Charcot-Marie-Tooth disease and related disorders 16-18 October 1998, Soestduinen, The Netherlands

21 January 2018

1 reference

12 December 2020

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1385/NMM:8:1-2:75

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Dimensions Publication ID

14 August 2017

1038645391

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1 reference