(Q35856535)

English

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.

scientific article published on 26 December 2011

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22200116%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22200116%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Arnaud Chevrollier

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22200116%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Dominique Bonneau

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22200116%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Vincent Procaccio

5

1 reference

Europe PubMed Central

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19 January 2020

6

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19 January 2020

7

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19 January 2020

author name string

Julien Cassereau

1

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19 January 2020

Christophe Verny

4

1 reference

Europe PubMed Central

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19 January 2020

publication date

26 December 2011

1 reference

Europe PubMed Central

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19 January 2020

Orphanet Journal of Rare Diseases

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22200116%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

6

1 reference

Europe PubMed Central

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19 January 2020

87

1 reference

Europe PubMed Central

PMC publication ID

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19 January 2020

LOVD v.2.0: the next generation in gene variant databases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

Targeting and function of the mitochondrial fission factor GDAP1 are dependent on its tail-anchor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

A lethal defect of mitochondrial and peroxisomal fission

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

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

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

https://api.crossref.org/works/10.1186%2F1750-1172-6-87

21 January 2018

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

Population frequencies of inherited neuromuscular diseases—A world survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

11 July 2018

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-87

21 January 2018

Standardizing mutation nomenclature: why bother?

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-87

21 January 2018

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-87

21 January 2018

eOPA1: an online database for OPA1 mutations

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-87

21 January 2018

Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313893

24 September 2018

Autosomal-Recessive Forms of Demyelinating Charcot-Marie-Tooth Disease

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-87

21 January 2018

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-87

21 January 2018

Research criteria for diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP). Report from an Ad Hoc Subcommittee of the American Academy of Neurology AIDS Task Force

1 reference

https://pubmed.ncbi.nlm.nih.gov/22200116

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Charcot-Marie-Tooth disease: from phenotype to genotype]

1 reference

https://pubmed.ncbi.nlm.nih.gov/22200116

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

1 reference

https://pubmed.ncbi.nlm.nih.gov/22200116

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22200116

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-6-87

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22200116%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22200116%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22200116%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

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