Clinical phenotype in X-linked Charcot-Marie-Tooth disease with an entire deletion of the connexin 32 coding sequence (Q73667235)

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scientific article published on 01 March 2001

Language	Label	Description	Also known as
English	Clinical phenotype in X-linked Charcot-Marie-Tooth disease with an entire deletion of the connexin 32 coding sequence	scientific article published on 01 March 2001

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11266688%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Clinical phenotype in X-linked Charcot-Marie-Tooth disease with an entire deletion of the connexin 32 coding sequence (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11266688%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

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M Nakagawa

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11266688%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

H Takashima

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11266688%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

F Umehara

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11266688%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

K Arimura

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11266688%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

F Miyashita

5

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Europe PubMed Central

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5 November 2019

N Takenouchi

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11266688%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

W Matsuyama

7

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Europe PubMed Central

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5 November 2019

M Osame

8

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Europe PubMed Central

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5 November 2019

publication date

1 March 2001

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5 November 2019

Journal of the Neurological Sciences

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5 November 2019

185

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5 November 2019

1

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5 November 2019

31-37

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5 November 2019

Molecular basis of inherited neuropathies.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

Connexin32 is a myelin-related protein in the PNS and CNS

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

Genotype/Phenotype Correlations in X-Linked Dominant Charcot-Marie-Tooth Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

A new type of hereditary motor and sensory neuropathy linked to chromosome 3

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

Familial mitochondrial encephalomyopathy with deaf-mutism, ophthalmoplegia and leukodystrophy

1 reference

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7 January 2021

Altered Trafficking of Mutant Connexin32

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

The challenge of CMTX and connexin 32 mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

Connexin32-null mice develop demyelinating peripheral neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

The gap junction communication channel

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

Accelerated demyelination of peripheral nerves in mice deficient in connexin 32 and protein zero

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900454-3

7 January 2021

Identifiers

10.1016/S0022-510X(01)00454-3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11266688%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11266688%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

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