Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands (Q44239703)

From Wikidata

Jump to navigation Jump to search

scientific article published in December 2002

Language	Label	Description	Also known as
English	Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands	scientific article published in December 2002

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

0 references

0 references

Bethlem myopathy

1 reference

based on heuristic

inferred from title

2

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Giovanna Lattanzi

8

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

11

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

object named as

Rabah Ben Yaou

13

0 references

Guglielmina Pepe

object named as

Guglielmina Pepe

1

0 references

Luciano Merlini

object named as

Luciano Merlini

9

0 references

Pascale Guicheney

object named as

Pascale Guicheney

7

0 references

Francesco Muntoni

10

object named as

Francesco Muntoni

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Haluk Topaloglu

16

object named as

Haluk Topaloglu

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Anneke J van der Kooi

17

object named as

Anneke van der Kooi

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Marianne de Visser

6

object named as

Marianne de Visser

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

author name string

Paolo Bonaldo

3

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Kate Bushby

4

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Ikuya Nonaka

12

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Patrizia Sabatelli

14

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Caroline Sewry

15

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

publication date

1 December 2002

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Neuromuscular Disorders

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

12

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

10

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

984-993

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900139-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900139-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900139-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900139-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900139-6

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900139-6

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900139-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Congenital muscular dystrophies: 1997 update

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900139-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900139-6

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1016%2FS0960-8966%2802%2900139-6

7 January 2021

based on heuristic

inferred from DOI database lookup

The syndrome of myosclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900139-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900139-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900139-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A mitochondrial perspective on cell death

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900139-6

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900139-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(02)00139-6

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 December 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=Q44239703&oldid=2246239585"