about
Central core diseaseCentral-core disease and malignant hyperpyrexiaCentral core disease: clinical, pathological, and genetic featuresCritical Role of Intracellular RyR1 Calcium Release Channels in Skeletal Muscle Function and DiseaseCharacterization and temporal development of cores in a mouse model of malignant hyperthermiaGenetics and pathogenesis of malignant hyperthermia.Ryanodine receptor mutations in malignant hyperthermia and central core disease.Ryanodine receptors: structure, expression, molecular details, and function in calcium release.Remodelling of the contractile apparatus of striated muscle stimulated electrically in a shortened positionRYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice.Mutation update: the spectra of nebulin variants and associated myopathies.Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor.Myogenes and myotubes.The value of electron microscopy in muscle biopsies.Oxidative stress, mitochondrial damage, and cores in muscle from calsequestrin-1 knockout miceAdolescent idiopathic scoliosis without limb weakness: a differential diagnosis of core myopathy?Oxidative capacity and fatigability in run-trained malignant hyperthermia-susceptible miceLessons from inborn errors of metabolism.Kyphoscoliosis associated with congenital neuromuscular disease with uniform type 1 fibers.Molecular biology of channelopathies: impact on diagnosis and treatment.New evidence for excessive accumulation of Z-band material in nemaline myopathyFunctional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptorA mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.Histopathology of Voluntary MuscleMuscular Dystrophy and Related Disorders.Late components of motor unit potentials in central core diseaseSingle fibre electromyography in central core disease.Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study.Multicore disease in twins.Central core disease in one of identical twins.Central core disease of muscle with focal wastingThe limp child.Core myopathies and malignant hyperthermia susceptibility: a review.Congenital neuromuscular disease with type I fibre hypotrophy, ophthalmoplegia and myofibril degeneration.Electromyography in infants and children.Non-dystrophic, myogenic myopathies with onset in infancy or childhood. A review of some characteristic syndromes.The Non-Dystrophic Myopathies.Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels.
P2860
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P2860
description
1956 nî lūn-bûn
@nan
1956 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1956 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1956年の論文
@ja
1956年論文
@yue
1956年論文
@zh-hant
1956年論文
@zh-hk
1956年論文
@zh-mo
1956年論文
@zh-tw
1956年论文
@wuu
name
A new congenital non-progressive myopathy.
@ast
A new congenital non-progressive myopathy.
@en
A new congenital non-progressive myopathy.
@nl
type
label
A new congenital non-progressive myopathy.
@ast
A new congenital non-progressive myopathy.
@en
A new congenital non-progressive myopathy.
@nl
prefLabel
A new congenital non-progressive myopathy.
@ast
A new congenital non-progressive myopathy.
@en
A new congenital non-progressive myopathy.
@nl
P356
P1433
P1476
A new congenital non-progressive myopathy.
@en
P2093
P304
P356
10.1093/BRAIN/79.4.610
P407
P577
1956-12-01T00:00:00Z