(Q46176595)

20 December 2017

title

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy (English)

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20 December 2017

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12

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20 December 2017

Volker Straub

14

object named as

Volker Straub

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20 December 2017

Debbie Hicks

1

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20 December 2017

Golara Torabi Farsani

2

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20 December 2017

Steven Laval

3

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20 December 2017

James Collins

4

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20 December 2017

Anna Sarkozy

5

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20 December 2017

Elena Martoni

6

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20 December 2017

Ashoke Shah

7

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20 December 2017

Yaqun Zou

8

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20 December 2017

Manuel Koch

9

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20 December 2017

Carsten G Bönnemann

10

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20 December 2017

Mark Roberts

11

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20 December 2017

Kate Bushby

13

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20 December 2017

publication date

13 December 2013

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20 December 2017

published in

Human Molecular Genetics

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20 December 2017

volume

23

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20 December 2017

issue

9

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20 December 2017

page(s)

2353-2363

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20 December 2017

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

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1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

Autosomal recessive inheritance of classic Bethlem myopathy

21 January 2018

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Autosomal recessive Bethlem myopathy

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

Collagen VI related muscle disorders

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study

21 January 2018

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Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

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

21 January 2018

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

21 January 2018

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A refined diagnostic algorithm for Bethlem myopathy

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

Ullrich disease due to deficiency of collagen VI in the sarcolemma

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations

21 January 2018

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A map of human genome variation from population-scale sequencing

21 January 2018

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MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

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A method and server for predicting damaging missense mutations

21 January 2018

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Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen

21 January 2018

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Biglycan organizes collagen VI into hexagonal-like networks resembling tissue structures

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

Large and small splice variants of collagen XII: differential expression and ligand binding.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

Mechanical strain increases expression of type XII collagen in murine osteoblastic MC3T3-E1 cells

21 January 2018

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Tenascin-X deficiency is associated with Ehlers-Danlos syndrome

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

Disulfide bonds in ER protein folding and homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

Quality control in the endoplasmic reticulum protein factory

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

Endoplasmic reticulum stress: signaling the unfolded protein response

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

Dindel: accurate indel calls from short-read data

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT637

21 January 2018

Identifiers

DOI

10.1093/HMG/DDT637

1 reference

20 December 2017

1 reference

20 December 2017