Natural history of pulmonary function in collagen VI-related myopathies (Q37383472)

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1 March 2020

title

Natural history of pulmonary function in collagen VI-related myopathies (English)

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Eugenio Mercuri

7

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1 March 2020

Adele D'Amico

9

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Monique Ryan

12

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Pascale Richard

13

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Shireen R Lamandé

16

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Kathryn North

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Francesco Muntoni

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1 March 2020

author name string

A Reghan Foley

1

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Susana Quijano-Roy

2

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1 March 2020

James Collins

3

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1 March 2020

Michelle McCallum

5

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1 March 2020

Nicolas Deconinck

6

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Marika Pane

8

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1 March 2020

Valérie Allamand

14

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1 March 2020

Debbie Hicks

15

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1 March 2020

Ying Hu

17

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1 March 2020

Francesca Gualandi

18

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1 March 2020

Sungyoung Auh

19

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Carsten G Bönnemann

21

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Volker Straub

4

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language of work or name

English

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publication date

22 November 2013

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1 March 2020

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1 March 2020

volume

136

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1 March 2020

issue

Pt 12

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page(s)

3625-3633

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Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008.

1 March 2020

cites work

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The collagen VI-related myopathies: muscle meets its matrix

9 September 2017

1 reference

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173rd ENMC International Workshop: congenital muscular dystrophy outcome measures 5-7 March 2010, Naarden, The Netherlands

9 September 2017

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Consensus statement on standard of care for congenital muscular dystrophies

9 September 2017

1 reference

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Surgical correction of spinal deformity in patients with congenital muscular dystrophy

9 September 2017

1 reference

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Autosomal recessive Bethlem myopathy

9 September 2017

1 reference

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Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

9 September 2017

1 reference

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Natural history of Ullrich congenital muscular dystrophy.

9 September 2017

1 reference

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

9 September 2017

1 reference

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Standardisation of spirometry

9 September 2017

1 reference

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Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement.

9 September 2017

1 reference

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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

9 September 2017

1 reference

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

9 September 2017

1 reference

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Disorders of the respiratory muscles

9 September 2017

1 reference

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

9 September 2017

1 reference

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

9 September 2017

1 reference

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The syndrome of myosclerosis

9 September 2017

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Early onset collagen VI myopathies: Genetic and clinical correlations

9 September 2017

1 reference

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Practical problems in the respiratory care of patients with muscular dystrophy

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3859224

Autosomal recessive inheritance of classic Bethlem myopathy

14 September 2017

1 reference

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The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice.

26 June 2018

1 reference

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Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy

26 June 2018

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Autosomal recessive myosclerosis myopathy is a collagen VI disorder

2 September 2018

1 reference

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Changes in spirometry over time as a prognostic marker in patients with Duchenne muscular dystrophy

2 September 2018

1 reference

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Goodness-of-fit in generalized nonlinear mixed-effects models.

2 September 2018

1 reference

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

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT284

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT284

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT284

Mechanism of CO(2) retention in patients with neuromuscular disease

21 January 2018

1 reference

12 December 2020

Respiratory function in the muscular dystrophies

1 reference

12 December 2020

Congenital muscular dystrophy: a clinicopathologic report of 24 cases

1 reference

12 December 2020

Clinical indications for noninvasive positive pressure ventilation in chronic respiratory failure due to restrictive lung disease, COPD, and nocturnal hypoventilation--a consensus conference report

1 reference

12 December 2020

Respiratory muscle testing: a valuable tool for children with neuromuscular disorders

1 reference

12 December 2020

Diurnal hypercapnia in patients with neuromuscular disease

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12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWT284

1 reference

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1 March 2020

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1 March 2020

PubMed publication ID

24271325

1 reference

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