(Q38135690)

29 August 2017

title

Clinical implications of genetic advances in Charcot-Marie-Tooth disease (English)

1 reference

29 August 2017

James M Polke

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24018473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Henry Houlden

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24018473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

language of work or name

English

0 references

publication date

10 September 2013

1 reference

29 August 2017

published in

Nature Reviews Neurology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24018473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24018473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24018473%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

562-571

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24018473%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/nrneurol.2013.179

13 June 2020

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Disease-targeted sequencing: a cornerstone in the clinic

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Nerve root hypertrophy in CMT type 1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Idiopathic neuropathy: new paradigms, new promise.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Recommendations for the predictive genetic test in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

What can we learn from the history of Charcot-Marie-Tooth disease?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

[Case of Charcot-Marie-Tooth disease type 1A with increased cerebrospinal fluid proteins and nerve root hypertrophy]

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.179

The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification

31 March 2020

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24018473