Congenital myopathies--a comprehensive update of recent advancements.

Congenital myopathies--a comprehensive update of recent advancements.

Item
http://www.wikidata.org/entity/Q37365635
Respiratory assessment in centronuclear myopathiesSkeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration.Type 1 ryanodine receptor knock-in mutation causing central core disease of skeletal muscle also displays a neuronal phenotype.Diaphragm assessment in mice overexpressing phospholamban in slow-twitch type I muscle fibers.Coexistence of central nucleus, cores, and rods: Diagnostic relevance.Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rodsOn a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy.A Case Report of Congenital Fiber Type Disproportion with an Increased Level of Anti-ACh Receptor Antibodies.Mutations in the nebulin gene in a child with nemaline (rod) myopathy.The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal-onset cap myopathy.Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis.New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.
P2860

Congenital myopathies--a comprehensive update of recent advancements.

Item
http://www.wikidata.org/entity/Q37365635
description
article científic
@ca
article scientifique
@fr
articolo scientifico
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artigo científico
@pt
bilimsel makale
@tr
scientific article published on May 2009
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Congenital myopathies--a comprehensive update of recent advancements.
@en
Congenital myopathies--a comprehensive update of recent advancements.
@nl
type
label
Congenital myopathies--a comprehensive update of recent advancements.
@en
Congenital myopathies--a comprehensive update of recent advancements.
@nl
prefLabel
Congenital myopathies--a comprehensive update of recent advancements.
@en
Congenital myopathies--a comprehensive update of recent advancements.
@nl
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P1476
P2093
P2860
P304
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P356
P407
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P478
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P5875
P698
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P1433
P1476
Congenital myopathies--a comprehensive update of recent advancements.
@en
P2093
P2860
P304
P31
P356
10.1111/J.1600-0404.2008.01126.X
P407
P433
P478
P577
P5875
P698
P921