(Q35074642)

6 August 2017

title

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2 (English)

1 reference

Charcot-Marie-Tooth disease type 2

6 August 2017

main subject

1 reference

9

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6 August 2017

10

Stephan Züchner

1 reference

6 August 2017

author name string

Donald S McCorquodale

1

1 reference

6 August 2017

Gladys Montenegro

2

1 reference

6 August 2017

Ainsley Peguero

3

1 reference

6 August 2017

Nicole Carlson

4

1 reference

6 August 2017

Fiorella Speziani

5

1 reference

6 August 2017

Justin Price

6

1 reference

6 August 2017

Sean W Taylor

7

1 reference

6 August 2017

Michel Melanson

8

1 reference

6 August 2017

publication date

22 January 2011

1 reference

6 August 2017

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6 August 2017

volume

258

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6 August 2017

issue

7

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6 August 2017

page(s)

1234-1239

1 reference

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125445

Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125445

Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125445

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125445

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125445

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125445

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125445

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125445

Phenotypic spectrum of MFN2 mutations in the Spanish population

28 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5910-7

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5910-7

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5910-7

Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5910-7

Genetic epidemiology of Charcot-Marie-Tooth in the general population.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125445

Molecular Genetics of Autosomal-Dominant Axonal Charcot-Marie-Tooth Disease

27 September 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5910-7

Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5910-7

Early-onset stroke associated with a mutation in mitofusin 2

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A

1 reference

12 December 2020

Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene

1 reference

12 December 2020

Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes

1 reference

12 December 2020

10.1007/S00415-011-5910-7

Identifiers

DOI

1 reference

release_mfhl42qdh5atbolvznw5rdeziq

6 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/mfhl42qdh5atbolvznw5rdeziq

24 November 2022

mapped directly with Wikidata item

PMC publication ID

3125445

1 reference

6 August 2017

1 reference