(Q47671827)

4 February 2018

title

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

1 reference

4 February 2018

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Angelika F Hahn

1

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4 February 2018

Charles F Bolton

2

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4 February 2018

Christopher M White

3

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4 February 2018

William F Brown

4

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4 February 2018

Sascha E Tuuha

5

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4 February 2018

Charles C Tan

6

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4 February 2018

Peter J Ainsworth

7

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4 February 2018

language of work or name

English

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publication date

1 October 1999

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4 February 2018

Annals of the New York Academy of Sciences

number of pages

17

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based on heuristic

inferred from page(s)

published in

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4 February 2018

volume

883

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4 February 2018

issue

1

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4 February 2018

page(s)

366-382

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4 February 2018

From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08598.X

Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08598.X

Charcot-Marie-Tooth disease and related inherited neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08598.X

Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08598.X

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08598.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08598.X

X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08598.X

Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08598.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.TB08598.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08598.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.TB08598.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.TB08598.X

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08598.X

Connexin32-null mice develop demyelinating peripheral neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08598.X

Gene action in the X-chromosome of the mouse (Mus musculus L.)

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08598.X

Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08598.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.TB08598.X

Abnormalities in the axonal cytoskeleton induced by a connexin32 mutation in nerve xenografts.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08598.X

Connections with connexins: the molecular basis of direct intercellular signaling

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08598.X

Connexins, gap junctions and cell-cell signalling in the nervous system

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08598.X

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.TB08598.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.TB08598.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.TB08598.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.TB08598.X

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08598.X

X-linked dominant charcot-marie-tooth neuropathy with 15 cases in a family genetic linkage study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08598.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.TB08598.X

10.1111/J.1749-6632.1999.TB08598.X

21 January 2018

Identifiers

DOI

1 reference

4 February 2018

PubMed ID

29086963

1 reference

4 February 2018