Natural history of pulmonary function in collagen VI-related myopathies - Wikidata - awgldk - TriplyDB

Natural history of pulmonary function in collagen VI-related myopathies

Natural history of pulmonary function in collagen VI-related myopathies

http://www.wikidata.org/entity/Q37383472

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Prevalence of congenital muscular dystrophy in Italy: a population study Diagnostic approach to the congenital muscular dystrophies.Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management.Long term non-invasive ventilation in children: impact on survival and transition to adult care.Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies.Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).Neuromuscular disease and respiratory physiology in children: putting lung function into perspective.Airway and lung remodelling in chronic pulmonary obstructive disease: a role for muscarinic receptor antagonists?The neuromuscular differential diagnosis of joint hypermobility.Home Mechanical Ventilation: An Overview.Adherence and barriers to hyperinsufflation in children with congenital muscular dystrophy.Comparison of sitting and supine forced vital capacity in collagen VI-related dystrophy and laminin α2-related dystrophy.Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy.Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability.The value of respiratory muscle testing in a child with congenital muscular dystrophy.Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.Genetic and Clinical Advances of Congenital Muscular Dystrophy.Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders.[Episodes of recurrent pneumothorax in a patient with collagen VI-related congenital muscular dystrophy].Treating pediatric neuromuscular disorders: The future is now.Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.

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P2860

Natural history of pulmonary function in collagen VI-related myopathies

http://www.wikidata.org/entity/Q37383472

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年學術文章

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2013年學術文章

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2013年學術文章

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Natural history of pulmonary function in collagen VI-related myopathies

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Natural history of pulmonary function in collagen VI-related myopathies.

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Natural history of pulmonary function in collagen VI-related myopathies

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Natural history of pulmonary function in collagen VI-related myopathies.

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Natural history of pulmonary function in collagen VI-related myopathies

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Natural history of pulmonary function in collagen VI-related myopathies.

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Natural history of pulmonary function in collagen VI-related myopathies

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A Reghan Foley

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Carsten G Bönnemann

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Debbie Hicks

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Francesca Gualandi

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Francesco Muntoni

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James Collins

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Kathryn North

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Marika Pane

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Michelle McCallum

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Nicolas Deconinck

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P2860

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

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

Standardisation of spirometry

Autosomal recessive Bethlem myopathy.

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

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

Disorders of the respiratory muscles.

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.

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

The syndrome of myosclerosis.

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10.1093/BRAIN/AWT284

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Pt 12

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136

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Pascale Richard

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