(Q30718383)

26 June 2017

title

Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes (English)

1 reference

26 June 2017

Street VA

1

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26 June 2017

Meekins G

2

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26 June 2017

Lipe HP

3

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26 June 2017

Seltzer WK

4

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26 June 2017

Carter GT

5

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26 June 2017

Kraft GH

6

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26 June 2017

Bird TD

7

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26 June 2017

publication date

1 October 2002

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26 June 2017

published in

Neuromuscular Disorders

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26 June 2017

volume

12

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26 June 2017

issue

7-8

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26 June 2017

page(s)

643-650

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Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field

26 June 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900021-4

7 January 2021

Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

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7 January 2021

Connexin32 and X-linked Charcot-Marie-Tooth disease

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7 January 2021

Conduction block in clinical practice

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7 January 2021

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

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7 January 2021

Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900021-4

7 January 2021

An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900021-4

7 January 2021

Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal

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7 January 2021

Recognition of the Martin-Gruber anastomosis

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7 January 2021

Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation

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7 January 2021

Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.

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7 January 2021

Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study

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7 January 2021

Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin

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7 January 2021

Myelin protein zero and membrane adhesion.

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7 January 2021

Myelin P0 glycoprotein: identification of the site phosphorylated in vitro and in vivo by endogenous protein kinases

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7 January 2021

Protein kinase recognition sequence motifs

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7 January 2021

Identification of a novel PAX6 gene mutation in an aniridia patient

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7 January 2021

Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13

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7 January 2021

Connexin family of gap junction proteins

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7 January 2021

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

1 reference

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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%2FS0960-8966%2802%2900021-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900021-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900021-4

7 January 2021

Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900021-4

7 January 2021

10.1016/S0960-8966(02)00021-4

Identifiers

DOI

1 reference

26 June 2017

1 reference