Consensus statement on standard of care for congenital myopathies. - Wikidata - awgldk - TriplyDB

Consensus statement on standard of care for congenital myopathies.

Consensus statement on standard of care for congenital myopathies.

http://www.wikidata.org/entity/Q37585735

about

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 metabolism Congenital 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.

http://www.wikidata.org/entity/Q37585735

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on March 2012

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

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

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0883073812436605

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Journal of Child Neurology

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Consensus statement on standard of care for congenital myopathies.

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Allan M Glanzman

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Brigitte Estournet-Mathiaud

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Brittany Hofmeister

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Caroline Sewry

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Carsten Bonnemann

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Ching H Wang

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Craig Munns

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Dominic Fitzgerald

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Frederic Shapiro

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Hali Weiss

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P2860

Central core disease

Malignant hyperthermia

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

Central core disease: clinical, pathological, and genetic features

Nemaline myopathy: a clinical study of 143 cases

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

X-linked myotubular and centronuclear myopathies

What's new in congenital myopathies?

Consensus Statement for Standard of Care in Spinal Muscular Atrophy

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.

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363-382

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scholarly article

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3

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Heinz Jungbluth

Thomas Sejersen

Anastassios C Koumbourlis

Leslie Morrison

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2012-03-01T00:00:00Z

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