(Q29029240)

English

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

scientific article (publication date: May 2003)

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scholarly article

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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 (English)

1 reference

DOI.org query endpoint

https://doi.org/10.1016%2FS0960-8966%2802%2900281-X

26 March 2017

7

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author name string

H Azzedine

1

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DOI.org query endpoint

https://doi.org/10.1016%2FS0960-8966%2802%2900281-X

26 March 2017

M Ruberg

2

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DOI.org query endpoint

https://doi.org/10.1016%2FS0960-8966%2802%2900281-X

26 March 2017

D Ente

3

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DOI.org query endpoint

https://doi.org/10.1016%2FS0960-8966%2802%2900281-X

26 March 2017

C Gilardeau

4

1 reference

DOI.org query endpoint

https://doi.org/10.1016%2FS0960-8966%2802%2900281-X

26 March 2017

S Périé

5

1 reference

DOI.org query endpoint

https://doi.org/10.1016%2FS0960-8966%2802%2900281-X

26 March 2017

B Wechsler

6

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DOI.org query endpoint

https://doi.org/10.1016%2FS0960-8966%2802%2900281-X

26 March 2017

E LeGuern

8

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DOI.org query endpoint

https://doi.org/10.1016%2FS0960-8966%2802%2900281-X

26 March 2017

O Dubourg

9

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DOI.org query endpoint

https://doi.org/10.1016%2FS0960-8966%2802%2900281-X

26 March 2017

publication date

May 2003

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DOI.org query endpoint

https://doi.org/10.1016%2FS0960-8966%2802%2900281-X

26 March 2017

number of pages

6

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inferred from page(s)

Neuromuscular Disorders

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DOI.org query endpoint

https://doi.org/10.1016%2FS0960-8966%2802%2900281-X

26 March 2017

13

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https://doi.org/10.1016%2FS0960-8966%2802%2900281-X

26 March 2017

4

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DOI.org query endpoint

https://doi.org/10.1016%2FS0960-8966%2802%2900281-X

26 March 2017

341-346

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DOI.org query endpoint

https://doi.org/10.1016%2FS0960-8966%2802%2900281-X

26 March 2017

The clinical features of hereditary motor and sensory neuropathy types I and II

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900281-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(02)00281-X

1 reference

DOI.org query endpoint

https://doi.org/10.1016%2FS0960-8966%2802%2900281-X

26 March 2017

release_yrq3qxkk2bfnpgwcmyqxfh7wma

1 reference

https://api.fatcat.wiki/v0/release/yrq3qxkk2bfnpgwcmyqxfh7wma

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

https://api.fatcat.wiki/v0/release/yrq3qxkk2bfnpgwcmyqxfh7wma

24 November 2022

based on heuristic

mapped directly with Wikidata item

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