(Q37383716)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19826499%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

review article

1 reference

title

Diagnosis of Charcot-Marie-Tooth disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19826499%20AND%20SRC:MED&resulttype=core&format=json

Charcot–Marie–Tooth disease

9 February 2020

main subject

diagnosis

0 references

1 reference

25 April 2019

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19826499%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Carlos Casasnovas

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19826499%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

author name string

Isabel Banchs

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19826499%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Antonia Albertí

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19826499%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Laura De Jorge

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19826499%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Mónica Povedano

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19826499%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Jordi Montero

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19826499%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Juan Antonio Martínez-Matos

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19826499%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Victor Volpini

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19826499%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

language of work or name

1 reference

8 October 2009

3 references

22 April 2019

25 April 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19826499%20AND%20SRC:MED&resulttype=core&format=json

Journal of Biomedicine and Biotechnology

9 February 2020

published in

3 references

22 April 2019

25 April 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19826499%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19826499%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

page(s)

985415

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19826499%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 3.0 Unported

9 February 2020

copyright license

start time

1 January 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review).

1 reference

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Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations

6 September 2017

1 reference

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Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.

6 September 2017

1 reference

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

6 September 2017

1 reference

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

6 September 2017

1 reference

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Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

6 September 2017

1 reference

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Mitofusin 1 and 2 play distinct roles in mitochondrial fusion reactions via GTPase activity

6 September 2017

1 reference

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760395

Phenotypic clustering in MPZ mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760395

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760395

6 September 2017

Hereditary neuropathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760395

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

6 September 2017

1 reference

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Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes

6 September 2017

1 reference

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

6 September 2017

1 reference

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A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760395

A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760395

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760395

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760395

Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760395

Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.

6 September 2017

1 reference

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

6 September 2017

1 reference

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Population frequencies of inherited neuromuscular diseases—A world survey

6 September 2017

1 reference

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De-novo mutation in hereditary motor and sensory neuropathy type I.

6 September 2017

1 reference

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

6 September 2017

1 reference

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Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings.

27 July 2018

1 reference

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

2 September 2018

1 reference

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T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760395

Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.

2 September 2018

1 reference

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Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760395

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

2 September 2018

1 reference

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

2 September 2018

1 reference

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Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

2 September 2018

1 reference

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Mutation Testing in Charcot-Marie-Tooth Neuropathy

2 September 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2009%2F985415

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2009%2F985415

Hereditary motor and sensory neuropathy-russe: New autosomal recessive neuropathy in balkan gypsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2009%2F985415

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760395

Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease

5 November 2018

1 reference

https://api.crossref.org/works/10.1155%2F2009%2F985415

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2009%2F985415

A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

12 December 2020

Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name

1 reference

12 December 2020

An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan

1 reference

12 December 2020

[Clinical aspects and diagnostic and therapeutic approaches to motor and sensory hereditary neuropathies (NHMS)]

1 reference

12 December 2020

[Different phenotypes of Charcot-Marie-Tooth disease caused by mutations in the same gene. Are classical criteria for classification still valid?]

1 reference

12 December 2020

The application of nerve conduction and clinical studies to genetic counseling in hereditary motor and sensory neuropathy type I

1 reference

12 December 2020

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine,

1 reference

12 December 2020

Charcot-Marie-Tooth disease

1 reference

12 December 2020

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

1 reference

12 December 2020

Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population

1 reference

12 December 2020

[Mutations in the mitofusin 2 gene are the most common cause of Charcot-Marie-Tooth type 2 disease]

1 reference

12 December 2020

Identifiers

DOI

10.1155/2009/985415

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19826499%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19826499%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference