(Q44239703)

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

In more languages

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

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

Marianne de Visser

6

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

Anneke van der Kooi

17

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=2108850314"