X-linked Charcot-Marie-Tooth disease and connexin32. (Q33787291)

29 July 2017

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title

X-linked Charcot-Marie-Tooth disease and connexin32. (English)

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29 July 2017

Fischbeck KH

1

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29 July 2017

Abel A

series ordinal

2

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29 July 2017

Lin GS

series ordinal

3

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29 July 2017

Scherer SS

series ordinal

4

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29 July 2017

language of work or name

English

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publication date

1 September 1999

1 reference

Annals of the New York Academy of Sciences

29 July 2017

published in

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29 July 2017

volume

883

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29 July 2017

page(s)

36-41

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

29 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08564.X

Connexin32 and X-linked Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08564.X

X-linked dominant hereditary motor and sensory neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08564.X

X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08564.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08564.X

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08564.X

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08564.X

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08564.X

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08564.X

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08564.X

Connexin46 mutations in autosomal dominant congenital cataract

21 January 2018

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Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein

21 January 2018

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Functional gap junctions in the schwann cell myelin sheath

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08564.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08564.X

Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08564.X

Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08564.X

Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08564.X

Connexin32-null mice develop demyelinating peripheral neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08564.X

Screening of dominantly inherited Charcot-Marie-Tooth neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08564.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08564.X

10.1111/J.1749-6632.1999.TB08564.X

21 January 2018

Identifiers

DOI

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29 July 2017

1 reference