(Q35460113)

English

An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val) (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Masaaki Hirayama

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

author name string

K Misu

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

T Yoshihara

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Y Shikama

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

E Awaki

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

M Yamamoto

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

N Hattori

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

T Takegami

8

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

K Nakashima

9

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

G Sobue

10

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

language of work or name

0 references

publication date

1 December 2000

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Journal of Neurology, Neurosurgery and Psychiatry

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

69

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

806-811

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1737183

12 July 2018

Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1737183

12 July 2018

Clinicopathological features of Churg-Strauss syndrome-associated neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1737183

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1737183

12 July 2018

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1737183

12 July 2018

Cell-adhesion proteins of the immunoglobulin superfamily in the nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1737183

12 July 2018

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1737183

12 July 2018

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1737183

12 July 2018

Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1737183

12 July 2018

Bilateral tonic pupils and polyneuropathy in Sjögren's syndrome: a common pathophysiological mechanism?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1737183

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1737183

26 September 2018

Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1737183

26 September 2018

Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11080237

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked recessive bulbospinal neuronopathy. A clinicopathological study

1 reference

https://pubmed.ncbi.nlm.nih.gov/11080237

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ataxic sensory neuropathy and dorsal root ganglionitis associated with Sjögren's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11080237

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/11080237

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new type of hereditary motor and sensory neuropathy linked to chromosome 3

1 reference

https://pubmed.ncbi.nlm.nih.gov/11080237

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Axonal pathology in Japanese Guillain-Barré syndrome: a study of 15 autopsied cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/11080237

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11080237

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JNNP.69.6.806

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11080237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q35460113&oldid=1909694800"