Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease (Q21261384)

22 June 2017

title

Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease (English)

1 reference

22 June 2017

Geir J Braathen

1

Geir J

Braathen

1 reference

22 June 2017

Jette C Sand

series ordinal

2

author given names

Jette C

author last names

Sand

1 reference

22 June 2017

Geir Bukholm

series ordinal

3

author given names

Geir

author last names

Bukholm

1 reference

22 June 2017

Michael B Russell

series ordinal

4

author given names

Michael B

author last names

Russell

1 reference

22 June 2017

language of work or name

English

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publication date

9 July 2007

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22 June 2017

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22 June 2017

volume

7

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22 June 2017

issue

1

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page(s)

19

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Connexin46 mutations in autosomal dominant congenital cataract

22 June 2017

cites work

1 reference

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

19 March 2017

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An update in recurrent spontaneous abortion

19 March 2017

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Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene

19 March 2017

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Differential X reactivation in human placental cells: implications for reversal of X inactivation

19 March 2017

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Vascular gap junctions and implications for hypertension

12 September 2017

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Gap junctions and the connexin protein family

12 September 2017

1 reference

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Connexin expression and gap junctional intercellular communication in human first trimester trophoblast.

12 September 2017

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Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

12 September 2017

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Structural and functional diversity of connexin genes in the mouse and human genome

12 September 2017

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

12 September 2017

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A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

12 September 2017

1 reference

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

12 September 2017

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Multisubunit assembly of an integral plasma membrane channel protein, gap junction connexin43, occurs after exit from the ER

12 September 2017

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Pathophysiology of gap junctions in heart disease

12 September 2017

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The gap junction communication channel

12 September 2017

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X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.

27 September 2017

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Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

30 May 2018

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Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene

21 January 2018

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Nomenclature for the description of human sequence variations

21 January 2018

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Gap junctions are required for trophoblast proliferation in early human placental development

21 January 2018

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Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.

21 January 2018

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Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation

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

21 January 2018

1 reference

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Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

21 January 2018

1 reference

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A unique mutation in connexin32 associated with severe, early onset CMTX in a heterozygous female

29 November 2018

1 reference

12 December 2020

Expression of gap junctional connexins 26, 32 and 43 in bovine placentomes during pregnancy

1 reference

12 December 2020

Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The clinical features of hereditary motor and sensory neuropathy types I and II

1 reference

12 December 2020

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

1 reference

12 December 2020

Application of a quantitative scoring system in the investigation of some hereditary neurologicaI disorders

1 reference

12 December 2020

Neurological signs in a normal population

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2377-7-19

1 reference

Dimensions Publication ID

22 June 2017

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1471-2377-7-19

OpenCitations bibliographic resource ID

3712993

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3712993

1 reference