(Q48675525)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21504505%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease (English)

1 reference

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29 January 2020

1

1 reference

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29 January 2020

9

Mary M Reilly

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21504505%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

6

Mary Sweeney

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21504505%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

author name string

James Polke

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21504505%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Hadi Manji

3

1 reference

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29 January 2020

Julian Blake

4

1 reference

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29 January 2020

Lilla Reiniger

5

1 reference

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29 January 2020

Henry Houlden

7

1 reference

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29 January 2020

Sebastian Brandner

8

1 reference

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29 January 2020

publication date

1 March 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21504505%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Peripheral Nervous System

29 January 2020

published in

1 reference

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29 January 2020

volume

16

1 reference

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29 January 2020

issue

1

1 reference

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29 January 2020

page(s)

65-70

1 reference

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Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE

29 January 2020

cites work

1 reference

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

21 January 2018

1 reference

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Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2011.00321.X

Analysis of a Charcot-Marie-Tooth disease mutation reveals an essential internal ribosome entry site element in the connexin-32 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2011.00321.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.1529-8027.2011.00321.X

Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2011.00321.X

A change in the last base of BRCA1 exon 23, 5586G-->A, results in abnormal RNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2011.00321.X

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2011.00321.X

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

21 January 2018

1 reference

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Use of alternate promoters for tissue-specific expression of the gene coding for connexin32

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2011.00321.X

GeneSplicer: a new computational method for splice site prediction

21 January 2018

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Diagnosis and new treatments in genetic neuropathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2011.00321.X

X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2011.00321.X

A new alternatively spliced transcript of the mouse connexin32 gene is expressed in embryonic stem cells, oocytes, and liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2011.00321.X

Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2011.00321.X

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2011.00321.X

Statistical features of human exons and their flanking regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2011.00321.X

Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2011.00321.X

Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2011.00321.X

A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2011.00321.X