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

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5 November 2019

title

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

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5 November 2019

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M Nakagawa

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5 November 2019

H Takashima

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5 November 2019

F Umehara

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5 November 2019

K Arimura

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5 November 2019

F Miyashita

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5 November 2019

N Takenouchi

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5 November 2019

W Matsuyama

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5 November 2019

M Osame

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5 November 2019

publication date

1 March 2001

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Journal of the Neurological Sciences

5 November 2019

published in

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volume

185

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5 November 2019

issue

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5 November 2019

page(s)

31-37

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Molecular basis of inherited neuropathies.

5 November 2019

cites work

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

Familial mitochondrial encephalomyopathy with deaf-mutism, ophthalmoplegia and leukodystrophy

7 January 2021

1 reference

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

Altered Trafficking of Mutant Connexin32

7 January 2021

1 reference

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

The challenge of CMTX and connexin 32 mutations

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

Connexin32-null mice develop demyelinating peripheral neuropathy

7 January 2021

1 reference

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

The gap junction communication channel

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

Identifiers

DOI

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5 November 2019

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