(Q35451119)

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Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.

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scholarly article

1 reference

Europe PubMed Central

8 August 2017

Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33. (English)

1 reference

Europe PubMed Central

8 August 2017

Fons John Marie Gabreëls

5

object named as

Gabreëls F

1 reference

Europe PubMed Central

8 August 2017

author name string

Gabreëls-Festen A

1

1 reference

Europe PubMed Central

8 August 2017

van Beersum S

2

1 reference

Europe PubMed Central

8 August 2017

Eshuis L

3

1 reference

Europe PubMed Central

8 August 2017

LeGuern E

4

1 reference

Europe PubMed Central

8 August 2017

van Engelen B

6

1 reference

Europe PubMed Central

8 August 2017

Mariman E

7

1 reference

Europe PubMed Central

8 August 2017

language of work or name

0 references

publication date

1 May 1999

1 reference

Europe PubMed Central

8 August 2017

Journal of Neurology, Neurosurgery and Psychiatry

1 reference

Europe PubMed Central

8 August 2017

66

1 reference

Europe PubMed Central

8 August 2017

569-574

1 reference

Europe PubMed Central

8 August 2017

5

1 reference

Europe PubMed Central

8 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736348

12 July 2018

Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736348

12 July 2018

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736348

12 July 2018

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736348

12 July 2018

The status of HMSN type III.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736348

12 July 2018

Autosomal recessive forms of hereditary motor and sensory neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736348

12 July 2018

Hereditary motor and sensory neuropathies in Swedish children. III. De- and remyelinating type in 10 sporadic cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736348

12 July 2018

Spinocerebellar Ataxia with Neural Myatrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736348

12 July 2018

Electron-microscopic heterogeneity of onion-bulb neuropathies of the Déjerine-Sottas type. Two patients in one family with the variant described by Lyon (1969).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736348

12 July 2018

Crossover counts and likelihood in multipoint linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736348

12 July 2018

Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736348

12 July 2018

Autosomal recessive form of hereditary motor and sensory neuropathy type I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736348

12 July 2018

A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736348

26 September 2018

Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736348

26 September 2018

X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736348

26 September 2018

Hereditary motor and sensory neuropathy of demyelinating and remyelinating type in children. Ultrastructural and morphometric studies on sural nerve biopsy specimens from ten sporadic cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/10209165

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding

1 reference

https://pubmed.ncbi.nlm.nih.gov/10209165

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/10209165

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing

1 reference

https://pubmed.ncbi.nlm.nih.gov/10209165

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10209165

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Charcot-Marie-Tooth disease associated with hypertrophic neuropathy: a neuropathologic study of two cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/10209165

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JNNP.66.5.569

1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

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0 references

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