(Q30413900)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22396310%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

title

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22396310%20AND%20SRC:MED&resulttype=core&format=json

autosomal dominant centronuclear myopathy

25 January 2020

main subject

0 references

genotype-phenotype correlation

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22396310%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Johann Bohm

2

1 reference

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25 January 2020

Marc Bitoun

5

1 reference

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25 January 2020

Fabrice Klein

10

1 reference

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25 January 2020

Nanna Witting

22

1 reference

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25 January 2020

Luciano Merlini

26

1 reference

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25 January 2020

Florence Petit

33

1 reference

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25 January 2020

Enrico Bertini

44

1 reference

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25 January 2020

Christophe Beroud

47

1 reference

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25 January 2020

Katherine Mathews

50

1 reference

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25 January 2020

Basil T Darras

60

1 reference

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25 January 2020

Pascale Guicheney

65

1 reference

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25 January 2020

Jean-Louis Mandel

67

1 reference

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25 January 2020

Alan H. Beggs

68

1 reference

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25 January 2020

3

Valérie Biancalana

1 reference

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25 January 2020

48

Bernard Prudhon

1 reference

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25 January 2020

11

Nicolas Dondaine

1 reference

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25 January 2020

Jon Andoni Urtizberea

45

object named as

Jon Andoni Urtizberea

1 reference

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25 January 2020

7

Elise Schaefer

1 reference

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Carina Wallgren-Pettersson

25 January 2020

24

object named as

Carina Wallgren-Pettersson

1 reference

25 January 2020

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13

Nicolas Haumesser

1 reference

25 January 2020

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29

Judith Melki

1 reference

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25 January 2020

author name string

Elizabeth T Dechene

4

1 reference

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25 January 2020

Christopher R Pierson

6

1 reference

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25 January 2020

Hatice Karasoy

8

1 reference

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25 January 2020

Melissa A Dempsey

9

1 reference

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25 January 2020

Christine Kretz

12

1 reference

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25 January 2020

Claire Poirson

14

1 reference

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25 January 2020

Anne Toussaint

15

1 reference

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25 January 2020

Rebecca S Greenleaf

16

1 reference

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25 January 2020

Melissa A Barger

17

1 reference

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25 January 2020

Lane J Mahoney

18

1 reference

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25 January 2020

Peter B Kang

19

1 reference

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25 January 2020

Edmar Zanoteli

20

1 reference

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25 January 2020

John Vissing

21

1 reference

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25 January 2020

Andoni Echaniz-Laguna

23

1 reference

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25 January 2020

James Dowling

25

1 reference

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25 January 2020

Anders Oldfors

27

1 reference

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25 January 2020

Lilian Bomme Ousager

28

1 reference

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25 January 2020

Amanda Krause

30

1 reference

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25 January 2020

Christina Jern

31

1 reference

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25 January 2020

Acary S B Oliveira

32

1 reference

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25 January 2020

Aurélia Jacquette

34

1 reference

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25 January 2020

Annabelle Chaussenot

35

1 reference

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25 January 2020

David Mowat

36

1 reference

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25 January 2020

Bruno Leheup

37

1 reference

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25 January 2020

Michele Cristofano

38

1 reference

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25 January 2020

Juan José Poza Aldea

39

1 reference

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25 January 2020

Fabrice Michel

40

1 reference

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25 January 2020

Alain Furby

41

1 reference

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25 January 2020

Jose E Barcena Llona

42

1 reference

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25 January 2020

Rudy Van Coster

43

1 reference

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25 January 2020

Valérie Drouin-Garraud

46

1 reference

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25 January 2020

Melanie Bedford

49

1 reference

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25 January 2020

Lori A H Erby

51

1 reference

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25 January 2020

Stephen A Smith

52

1 reference

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25 January 2020

Jennifer Roggenbuck

53

1 reference

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25 January 2020

Carol A Crowe

54

1 reference

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25 January 2020

Allison Brennan Spitale

55

1 reference

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25 January 2020

Sheila C Johal

56

1 reference

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25 January 2020

Anthony A Amato

57

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25 January 2020

Laurie A Demmer

58

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25 January 2020

Jessica Jonas

59

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25 January 2020

Thomas D Bird

61

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25 January 2020

Mercy Laurino

62

1 reference

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25 January 2020

Selman I Welt

63

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25 January 2020

Cynthia Trotter

64

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25 January 2020

Soma Das

66

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25 January 2020

Jocelyn Laporte

69

1 reference

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25 January 2020

publication date

4 April 2012

1 reference

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25 January 2020

1 reference

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25 January 2020

volume

33

1 reference

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25 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22396310%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

page(s)

949-959

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22396310%20AND%20SRC:MED&resulttype=core&format=json

Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.

25 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Crystal structure of nucleotide-free dynamin

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Common membrane trafficking defects of disease-associated dynamin 2 mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Mice lacking microRNA 133a develop dynamin 2–dependent centronuclear myopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Direct dynamin-actin interactions regulate the actin cytoskeleton

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Centronuclear myopathies: a widening concept

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Coordinated actions of actin and BAR proteins upstream of dynamin at endocytic clathrin-coated pits

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

An intramolecular signaling element that modulates dynamin function in vitro and in vivo

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Endosomal phosphoinositides and human diseases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Dynamin as a mover and pincher during cell migration and invasion

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Mutations in dynamin 2 cause dominant centronuclear myopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

The dynamin superfamily: universal membrane tubulation and fission molecules?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Dynamin2 and cortactin regulate actin assembly and filament organization.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Expression and purification of dynamin II domains and initial studies on structure and function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

UMD (Universal mutation database): a generic software to build and analyze locus-specific databases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Dynamin 2 is required for phagocytosis in macrophages

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Impairment of dynamin's GAP domain stimulates receptor-mediated endocytosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Ubiquitously expressed dynamin-II has a higher intrinsic GTPase activity and a greater propensity for self-assembly than neuronal dynamin-I

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374402

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.

20 June 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22067

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22067

Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22067

The Pleckstrin Homology Domains of Dynamin Isoforms Require Oligomerization for High Affinity Phosphoinositide Binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22067

Identification of dynamin, a novel mechanochemical enzyme that mediates interactions between microtubules

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22067

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22067

Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22067

RYR1 mutations are a common cause of congenital myopathies with central nuclei

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22067

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22067

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22067

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22067

Role of dynamin in the formation of transport vesicles from the trans-Golgi network

21 January 2018

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

1 reference

12 December 2020

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

1 reference

12 December 2020

A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation

1 reference

12 December 2020

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis

1 reference

12 December 2020

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset

1 reference

12 December 2020

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.22067

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22396310%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22396310%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22396310%20AND%20SRC:MED&resulttype=core&format=json