Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease (Q78833539)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12542510%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

title

Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease (English)

1 reference

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17 December 2019

author name string

H Takashima

1

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17 December 2019

M Nakagawa

2

1 reference

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17 December 2019

F Umehara

3

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17 December 2019

K Hirata

4

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17 December 2019

M Suehara

5

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17 December 2019

H Mayumi

6

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17 December 2019

K Yoshishige

7

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17 December 2019

W Matsuyama

8

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17 December 2019

M Saito

9

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17 December 2019

M Jonosono

10

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17 December 2019

K Arimura

11

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17 December 2019

M Osame

12

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17 December 2019

publication date

1 January 2003

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Acta Neurologica Scandinavica

17 December 2019

published in

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17 December 2019

volume

107

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17 December 2019

issue

1

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17 December 2019

page(s)

31-37

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Population frequencies of inherited neuromuscular diseases—A world survey

17 December 2019

cites work

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New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease

21 January 2018

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New point mutations and deletions of the connexin 32 gene in x-linked charcot-marie-tooth neuropathy

21 January 2018

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

21 January 2018

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Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.

21 January 2018

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Charcot-Marie-Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1)

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.

21 January 2018

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Germline mosaicism of MPZ gene in Dejerine-Sottas syndrome (HMSN III) associated with hereditary stomatocytosis

21 January 2018

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Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory

21 January 2018

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Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies

21 January 2018

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Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)

21 January 2018

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Gap junctions in the adult cerebral cortex: regional differences in their distribution and cellular expression of connexins.

21 January 2018

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

21 January 2018

1 reference

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Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1).

21 January 2018

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Genetic and clinical aspects of Charcot-Marie-Tooth's disease

21 January 2018

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7 January 2021

The Charcot-Marie-Tooth syndrome: clinical aspects from a population study in South Wales, UK

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses

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7 January 2021

Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene

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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

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

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7 January 2021

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

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7 January 2021

X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder.

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7 January 2021

X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study.

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7 January 2021

X-linked Charcot-Marie-Tooth disease and connexin32.

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7 January 2021

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

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7 January 2021

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Identifiers

DOI

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17 December 2019

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