Consensus statement on standard of care for congenital myopathies.
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Multidisciplinary approach to the management of myopathies.Combined MRI and ³¹P-MRS investigations of the ACTA1(H40Y) mouse model of nemaline myopathy show impaired muscle function and altered energy metabolism.An integrated diagnosis strategy for congenital myopathies.Multimodal MRI and (31)P-MRS investigations of the ACTA1(Asp286Gly) mouse model of nemaline myopathy provide evidence of impaired in vivo muscle function, altered muscle structure and disturbed energy metabolismCongenital myopathies: Natural history of a large pediatric cohort.Feeding and Swallowing Disorders in Pediatric Neuromuscular Diseases: An Overview.Rate of oral intake and effects of mechanical insufflation-exsufflation on pulmonary complications in patients with duchenne muscular dystrophy.Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.Managing snoring and obstructive sleep apnoea in childhood.Insights into the effects of disease-causing mutations in human actins.Pulmonary Manifestations of Neuromuscular Diseases.A fine balance and a shared learning journey: Exploring healthcare engagement through the experiences of youth with Neuromuscular Disorders.A natural history study of X-linked myotubular myopathy.Clinical course of growth in patients with congenital neuromuscular disease in a single multidisciplinary neuromuscular clinic.Anesthetic management of 877 pediatric patients undergoing muscle biopsy for neuromuscular disorders: a 20-year review.Dysphagia in Duchenne muscular dystrophy: practical recommendations to guide management.Children with central and peripheral neurologic disorders have distinguishable patterns of dysphagia on videofluoroscopic swallow study.Pneumonia in pediatric acute neuromuscular respiratory failure.Congenital myopathies: clinical phenotypes and new diagnostic tools.Ultrasound of oral and masticatory muscles: Why every neuromuscular swallow team should have an ultrasound machine.Cardiac α-actin over-expression therapy in dominant ACTA1 disease.Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.Treating pediatric neuromuscular disorders: The future is now.Molecular Genetics of Nemaline Myopathy
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Consensus statement on standard of care for congenital myopathies.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on March 2012
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Consensus statement on standard of care for congenital myopathies.
@en
Consensus statement on standard of care for congenital myopathies.
@nl
type
label
Consensus statement on standard of care for congenital myopathies.
@en
Consensus statement on standard of care for congenital myopathies.
@nl
prefLabel
Consensus statement on standard of care for congenital myopathies.
@en
Consensus statement on standard of care for congenital myopathies.
@nl
P2093
P2860
P50
P356
P1476
Consensus statement on standard of care for congenital myopathies.
@en
P2093
Allan M Glanzman
Brigitte Estournet-Mathiaud
Brittany Hofmeister
Caroline Sewry
Carsten Bonnemann
Ching H Wang
Craig Munns
Dominic Fitzgerald
Frederic Shapiro
Hali Weiss
P2860
P304
P356
10.1177/0883073812436605
P50
P577
2012-03-01T00:00:00Z