Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy (Q37300262)

From Wikidata

Jump to navigation Jump to search

The printable version is no longer supported and may have rendering errors. Please update your browser bookmarks and please use the default browser print function instead.

scientific article published on 05 June 2009

Language	Label	Description	Also known as
English	Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy	scientific article published on 05 June 2009

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy (English)

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Jeffery M. Vance

16

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

14

object named as

Zwi N Berneman

0 references

object named as

Martin Lammens

10

0 references

Stephan Züchner

2

object named as

Stephan Züchner

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

7

object named as

Elsdon Storey

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

author name string

Kristl G Claeys

1

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Marina Kennerson

3

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

José Berciano

4

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Antonio Garcia

5

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Kristien Verhoeven

6

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

John R Merory

8

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Henriette M E Bienfait

9

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Eva Nelis

11

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Jonathan Baets

12

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Els De Vriendt

13

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Ilse De Veuster

15

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Garth Nicholson

17

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Vincent Timmerman

18

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Peter De Jonghe

19

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

language of work or name

0 references

publication date

5 June 2009

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

132

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Pt 7

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

1741-1752

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

6 September 2017

Centronuclear (myotubular) myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

6 September 2017

Intermediate forms of Charcot-Marie-Tooth neuropathy: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

6 September 2017

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

6 September 2017

Mutations in dynamin 2 cause dominant centronuclear myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

6 September 2017

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate 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=2724916

6 September 2017

Charcot-Marie-Tooth disease: an update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

6 September 2017

Phenotypic clustering in MPZ mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

6 September 2017

Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

6 September 2017

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

6 September 2017

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe 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=2724916

6 September 2017

Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

6 September 2017

Dynamin2 and cortactin regulate actin assembly and filament organization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

6 September 2017

Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

6 September 2017

Dynamin and its role in membrane fission

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

6 September 2017

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

6 September 2017

The dynamins: redundant or distinct functions for an expanding family of related GTPases?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

6 September 2017

Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

6 September 2017

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=2724916

26 June 2018

Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

2 September 2018

Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

2 September 2018

Nomenclature for the description of human sequence variations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

2 September 2018

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

2 September 2018

Dynamin: a molecular motor with pinchase action

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

2 September 2018

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2724916

3 December 2018

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

1 reference

https://pubmed.ncbi.nlm.nih.gov/19502294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile globoid cell leucodystrophy (Krabbe's disease). Some remarks on clinical, biochemical and sural nerve biopsy findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/19502294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19502294

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/19502294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adult polyglucosan body disease: Clinical and nerve biopsy findings in two cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/19502294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Charcot-Marie-Tooth disease: an intermediate form

1 reference

https://pubmed.ncbi.nlm.nih.gov/19502294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19502294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/19502294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/BRAIN/AWP115

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

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=Q37300262&oldid=2088722513"