(Q37078644)

18 August 2017

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing (English)

1 reference

18 August 2017

17

Mary M Reilly

1 reference

18 August 2017

11

Michael P T Lunn

1 reference

18 August 2017

Sinead M Murphy

1

1 reference

18 August 2017

Matilde Laura

2

1 reference

18 August 2017

Katherine Fawcett

3

1 reference

18 August 2017

Amelie Pandraud

4

1 reference

18 August 2017

Yo-Tsen Liu

5

1 reference

18 August 2017

Gabrielle L Davidson

6

1 reference

18 August 2017

Alexander M Rossor

7

1 reference

18 August 2017

James M Polke

8

1 reference

18 August 2017

Victoria Castleman

9

1 reference

18 August 2017

Hadi Manji

10

1 reference

18 August 2017

Karen Bull

12

1 reference

18 August 2017

Gita Ramdharry

13

1 reference

18 August 2017

Mary Davis

14

1 reference

18 August 2017

Julian C Blake

15

1 reference

18 August 2017

Henry Houlden

16

1 reference

18 August 2017

language of work or name

English

0 references

publication date

10 May 2012

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

18 August 2017

1 reference

18 August 2017

83

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18 August 2017

706-710

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18 August 2017

7

1 reference

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736805

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736805

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736805

Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736805

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736805

Diagnosis and new treatments in genetic neuropathies.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736805

Sorting out the inherited neuropathies.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736805

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736805

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736805

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736805

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736805

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736805

The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736805

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736805

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736805

Reliability and validity of the CMT neuropathy score as a measure of disability.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736805

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736805

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736805

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

20 October 2018

1 reference

12 December 2020

The Charcot-Marie-Tooth syndrome: clinical aspects from a population study in South Wales, UK

1 reference

12 December 2020

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

1 reference

12 December 2020

Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype

1 reference

12 December 2020

Charcot-Marie-Tooth disease

1 reference

12 December 2020

Charcot–Marie–Tooth disease in Northern England: Figure 1

1 reference

12 December 2020

High frequency of SH3TC2 mutations in Czech HMSN I patients

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP-2012-302451

1 reference

18 August 2017

1 reference

18 August 2017

1 reference