(Q24533428)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11533912%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

case report

0 references

title

Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2. (English)

1 reference

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10 November 2019

6

1 reference

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10 November 2019

author name string

Kennerson ML

1

1 reference

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10 November 2019

Zhu D

2

1 reference

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10 November 2019

Gardner RJ

3

1 reference

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10 November 2019

Storey E

4

1 reference

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10 November 2019

Merory J

5

1 reference

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10 November 2019

Nicholson GA

7

1 reference

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10 November 2019

language of work or name

English

0 references

publication date

28 August 2001

1 reference

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American Journal of Human Genetics

10 November 2019

published in

1 reference

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10 November 2019

volume

69

1 reference

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10 November 2019

issue

4

1 reference

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10 November 2019

page(s)

883-888

1 reference

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Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1

10 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

BSMAP, a novel protein expressed specifically in the brain whose gene is localized on chromosome 19p12

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch Migraine Genetic Research Group

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

Connexin mutations in X-linked Charcot-Marie-Tooth disease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

Expression of growth/differentiation factor 1 in the nervous system: conservation of a bicistronic structure

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

Strategies for multilocus linkage analysis in humans

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

Faster sequential genetic linkage computations

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

Molecular genetics of inherited peripheral neuropathies: who are the actors?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226074

Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15

29 November 2018

1 reference

12 December 2020

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations

1 reference

12 December 2020

Wide spectrum of motor conduction velocity in Charcot-Marie-Tooth disease. An anatomico-physiological interpretation

1 reference

12 December 2020

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

1 reference

12 December 2020

The clinical features of hereditary motor and sensory neuropathy types I and II

1 reference

12 December 2020

Report of the Committee on Methods of Linkage Analysis and Reporting

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Charcot-Marie-Tooth disease: an intermediate form

1 reference

12 December 2020

Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families

1 reference

12 December 2020

Identifiers

DOI

10.1086/323743

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11533912%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11533912%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

PubMed publication ID

11533912

1 reference