(Q34883830)

5 August 2017

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title

Therapy of collagen VI-related myopathies (Bethlem and Ullrich). (English)

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5 August 2017

Luciano Merlini

1

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Paolo Bernardi

object named as

Paolo Bernardi

series ordinal

2

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publication date

1 October 2008

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5 August 2017

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5 August 2017

volume

5

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5 August 2017

issue

4

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5 August 2017

page(s)

613-618

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A refined diagnostic algorithm for Bethlem myopathy

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514708

Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514708

Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514708

Evidence-based medicine for rare diseases: implications for data interpretation and clinical trial design

8 July 2018

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Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins

8 July 2018

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Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.

8 July 2018

1 reference

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Collagen VI related muscle disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514708

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

8 July 2018

1 reference

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8 July 2018

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117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514708

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514708

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

8 July 2018

1 reference

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

8 July 2018

1 reference

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

8 July 2018

1 reference

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A mitochondrial perspective on cell death

8 July 2018

1 reference

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Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514708

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

8 July 2018

1 reference

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Clinical trials and rare diseases: a way out of a conundrum

8 July 2018

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Scoliosis in spinal muscular atrophy: natural history and management

8 July 2018

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

8 July 2018

1 reference

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

8 July 2018

1 reference

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Three novel collagen VI chains with high homology to the alpha3 chain

21 January 2018

1 reference

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Pathological characteristics of skeletal muscle in Ullrich's disease with collagen VI deficiency.

21 January 2018

1 reference

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Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.

21 January 2018

1 reference

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

21 January 2018

1 reference

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The collagen-mitochondria connection

21 January 2018

1 reference

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90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2008.08.004

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

21 January 2018

1 reference

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

26 October 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2008.08.004

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

21 January 2018

1 reference

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Cardiac and Pulmonary Investigations in Bethlem Myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2008.08.004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2008.08.004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2008.08.004

Specific inhibition of nonsense-mediated mRNA decay components, SMG-1 or Upf1, rescues the phenotype of ullrich disease fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2008.08.004

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2008.08.004

Treatment of scoliosis in intermediate spinal muscular atrophy (SMA type II) in childhood

21 January 2018

1 reference

12 December 2020

Functional outcomes of arthroscopic capsular release of the elbow

1 reference

12 December 2020

A therapy for myopathy caused by collagen VI mutations?

1 reference

12 December 2020

Anterior release of the elbow for extension loss

1 reference

12 December 2020

Local dystrophin restoration with antisense oligonucleotide PRO051

1 reference

12 December 2020

Proteomic investigation of the molecular pathophysiology of dysferlinopathy

1 reference

12 December 2020

10.1016/J.NURT.2008.08.004

Identifiers

DOI

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Dimensions Publication ID

5 August 2017

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1 reference

5 August 2017

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