Diagnosis of Charcot-Marie-Tooth disease. (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

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9 February 2020

Carlos Casasnovas

3

1 reference

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9 February 2020

author name string

Isabel Banchs

1

1 reference

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9 February 2020

Antonia Albertí

4

1 reference

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9 February 2020

Laura De Jorge

5

1 reference

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9 February 2020

Mónica Povedano

6

1 reference

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9 February 2020

Jordi Montero

7

1 reference

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9 February 2020

Juan Antonio Martínez-Matos

8

1 reference

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9 February 2020

Victor Volpini

9

1 reference

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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

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9 February 2020

volume

2009

1 reference

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9 February 2020

page(s)

985415

1 reference

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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

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

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

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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

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

6 September 2017

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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

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

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

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

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

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

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

21 January 2018

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

21 January 2018

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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

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

5 November 2018

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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

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

21 January 2018

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

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

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12 December 2020

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

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12 December 2020

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12 December 2020

Charcot-Marie-Tooth disease

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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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