(Q35737856)

10 August 2017

Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome (English)

1 reference

10 August 2017

14

1 reference

10 August 2017

15

A R Janecke

1 reference

10 August 2017

M Auer-Grumbach

1

1 reference

10 August 2017

C Fischer

2

1 reference

10 August 2017

L Papić

3

1 reference

10 August 2017

E John

4

1 reference

10 August 2017

B Plecko

5

1 reference

10 August 2017

R E Bittner

6

1 reference

10 August 2017

G Bernert

7

1 reference

10 August 2017

T R Pieber

8

1 reference

10 August 2017

G Miltenberger

9

1 reference

10 August 2017

R Schwarz

10

1 reference

10 August 2017

C Windpassinger

11

1 reference

10 August 2017

F Grill

12

1 reference

10 August 2017

V Timmerman

13

1 reference

10 August 2017

1 February 2008

1 reference

10 August 2017

1 reference

10 August 2017

39

1 reference

10 August 2017

33-38

1 reference

10 August 2017

1

1 reference

Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272394

Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272394

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272394

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272394

GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272394

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272394

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272394

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272394

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272394

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272394

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272394

GDAP1 mutations in Czech families with early-onset CMT

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272394

Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272394

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272394

Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272394

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272394

4th Workshop of the European CMT-Consortium--62nd ENMC International Workshop: rare forms of Charcot-Marie-Tooth disease and related disorders 16-18 October 1998, Soestduinen, The Netherlands

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18504680

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18504680

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1055/S-2008-1077085

1 reference

10 August 2017

1 reference

10 August 2017

1 reference