(Q35938623)

11 August 2017

1 reference

title

Charcot-Marie-Tooth disease type 1 (English)

1 reference

11 August 2017

S. Malcolm

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1552540

8 October 2022

language of work or name

English

0 references

publication date

1 January 1992

1 reference

PMC publication ID

1015811

full work available at URL

11 August 2017

https://europepmc.org/articles/PMC1015811

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1552540

https://europepmc.org/articles/PMC1015811?pdf=render

8 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1552540

Journal of Medical Genetics

8 October 2022

published in

1 reference

11 August 2017

29

1 reference

11 August 2017

1

1 reference

11 August 2017

3-4

1 reference

Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015811

Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015811

Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015811

Hereditary motor and sensory neuropathies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015811

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015811

Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015811

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

11 July 2018

1 reference

12 December 2020

Hereditary motor and sensory neuropathy, X-linked: a half century follow-up

1 reference

12 December 2020

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

1 reference

12 December 2020

Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies

1 reference

12 December 2020

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.29.1.3

1 reference

11 August 2017

1 reference

PMC publication ID

1015811

11 August 2017

1 reference

PMC publication ID

1015811