about
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical coresCritical Role of Intracellular RyR1 Calcium Release Channels in Skeletal Muscle Function and DiseaseKelch proteins: emerging roles in skeletal muscle development and diseases.Protein Structure-Function Relationship at Work: Learning from Myopathy Mutations of the Slow Skeletal Muscle Isoform of Troponin TPathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusNemaline myopathy caused byTNNT1 mutations in a Dutch pedigreeRecent advances using zebrafish animal models for muscle disease drug discoveryKLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathyVariants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar DisorganizationBiallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline MyopathyBIN1 membrane curvature sensing and generation show autoinhibition regulated by downstream ligands and PI(4,5)P2.Impaired embryonic motility in dusp27 mutants reveals a developmental defect in myofibril structureIntegrative data mining highlights candidate genes for monogenic myopathies.SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathyTissue triage and freezing for models of skeletal muscle disease.An integrated diagnosis strategy for congenital myopathies.Triadopathies: an emerging class of skeletal muscle diseases.Aerobic Training in Patients with Congenital Myopathy.Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation SequencingHACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthNovel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.Coexistence of central nucleus, cores, and rods: Diagnostic relevance.Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.Congenital myopathy is caused by mutation of HACD1.KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligaseCalcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy.A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy.Analysis of embryonic and larval zebrafish skeletal myofibers from dissociated preparations.Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.Core myopathies and malignant hyperthermia susceptibility: a review.Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.Next generation sequencing (NGS) strategies for the genetic testing of myopathies.Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A.KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.A Rare Case of Severe Congenital RYR1-Associated Myopathy
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Congenital myopathies: an update
@ast
Congenital myopathies: an update
@en
Congenital myopathies: an update
@nl
type
label
Congenital myopathies: an update
@ast
Congenital myopathies: an update
@en
Congenital myopathies: an update
@nl
prefLabel
Congenital myopathies: an update
@ast
Congenital myopathies: an update
@en
Congenital myopathies: an update
@nl
P2093
P2860
P3181
P1476
Congenital myopathies: an update
@en
P2093
Carsten G. Bönnemann
Elizabeth M. Gibbs
James J. Dowling
Jessica R. Nance
P2860
P2888
P304
P3181
P356
10.1007/S11910-012-0255-X
P407
P577
2012-04-01T00:00:00Z
P6179
1014906628