(Q93955870)

English

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

scientific article published in July 2001

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scholarly article

1 reference

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11 May 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 (English)

1 reference

Europe PubMed Central

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11 May 2020

7

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24 May 2020

author name string

O Dubourg

1

1 reference

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24 May 2020

S Tardieu

2

1 reference

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24 May 2020

N Birouk

3

1 reference

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24 May 2020

R Gouider

4

1 reference

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24 May 2020

J M Léger

5

1 reference

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24 May 2020

T Maisonobe

6

1 reference

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24 May 2020

P Bouche

8

1 reference

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24 May 2020

E LeGuern

9

1 reference

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24 May 2020

publication date

1 July 2001

1 reference

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11 May 2020

Neuromuscular Disorders

1 reference

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24 May 2020

11

1 reference

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24 May 2020

5

1 reference

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24 May 2020

458-463

1 reference

Europe PubMed Central

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24 May 2020

Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

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%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

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Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked dominant hereditary motor and sensory neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Is CMTX an axonopathy?

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

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%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

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%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

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%2800%2900222-4

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%2800%2900222-4

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%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult-onset mettachromatic leukodystophy presenting as isolated peripheral neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Krabbe's disease presenting as a peripheral neuropathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical approach to inherited peroxisomal disorders: a series of 27 patients

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900222-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(00)00222-4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11404117%20AND%20SRC:MED&resulttype=core&format=json

24 May 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11404117%20AND%20SRC:MED&resulttype=core&format=json

24 May 2020

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