(Q37063658)

18 August 2017

1 reference

title

Charcot-Marie-Tooth disease: a clinico-genetic confrontation (English)

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18 August 2017

N Barisic

1

1 reference

18 August 2017

K G Claeys

2

1 reference

18 August 2017

M Sirotković-Skerlev

3

1 reference

18 August 2017

A Löfgren

4

1 reference

18 August 2017

E Nelis

5

1 reference

18 August 2017

P De Jonghe

6

1 reference

18 August 2017

V Timmerman

7

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18 August 2017

language of work or name

English

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publication date

23 January 2008

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18 August 2017

published in

Annals of Human Genetics

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18 August 2017

volume

72

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18 August 2017

issue

Pt 3

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18 August 2017

page(s)

416-441

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Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene

18 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00412.X

Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00412.X

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00412.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00412.X

Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00412.X

Transient cerebral white matter lesions in a patient with connexin 32 missense mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00412.X

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00412.X

The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00412.X

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00412.X

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2007.00412.X

10.1111/J.1469-1809.2007.00412.X

21 January 2018

Identifiers

DOI

1 reference

18 August 2017

1 reference