Early onset collagen VI myopathies: Genetic and clinical correlations. (Q39823975): Difference between revisions

From Wikidata

Jump to navigation Jump to search

Browse history interactively

← Older edit Newer edit →

Revision as of 01:21, 19 November 2018

scientific article

Language	Label	Description	Also known as
English	Early onset collagen VI myopathies: Genetic and clinical correlations.	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Early onset collagen VI myopathies: Genetic and clinical correlations. (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Pascale Richard

object named as

Pascale Richard

2

0 references

Thierry Kuntzer

0 references

author name string

Laura Briñas

1

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Susana Quijano-Roy

3

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Corine Gartioux

4

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Céline Ledeuil

5

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Emmanuelle Lacène

6

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Samira Makri

7

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Ana Ferreiro

8

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Svetlana Maugenre

9

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Haluk Topaloglu

10

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Göknur Haliloglu

11

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Isabelle Pénisson-Besnier

12

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Pierre-Yves Jeannet

13

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Luciano Merlini

14

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Carmen Navarro

15

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Annick Toutain

16

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Denys Chaigne

17

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Isabelle Desguerre

18

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Christine de Die-Smulders

19

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Murielle Dunand

20

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Bernard Echenne

21

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Bruno Eymard

22

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Kim Maincent

24

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Michèle Mayer

25

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Ghislaine Plessis

26

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

François Rivier

27

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Filip Roelens

28

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Tanya Stojkovic

29

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Ana Lía Taratuto

30

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Fabiana Lubieniecki

31

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Soledad Monges

32

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Christine Tranchant

33

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Louis Viollet

34

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Norma B Romero

35

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Brigitte Estournet

36

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Pascale Guicheney

37

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Valérie Allamand

38

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

publication date

1 October 2010

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Annals of Neurology

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

68

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

511-520

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

Molecular assembly, secretion, and matrix deposition of type VI collagen

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Collagen VI related muscle disorders

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Autosomal recessive inheritance of classic Bethlem myopathy

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Autosomal recessive Bethlem myopathy

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Natural history of Ullrich congenital muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

The C5 domain of the collagen VI alpha3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Electron-microscopical approach to a structural model of intima collagen

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

166th ENMC International Workshop on Collagen type VI-related Myopathies, 22–24 May 2009, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan

1 reference

https://api.crossref.org/works/10.1002%2FANA.22087

21 January 2018

Identifiers

10.1002/ANA.22087

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 September 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=Q39823975&oldid=793399988"