Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus
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Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle diseaseReport on the 3rd Ottawa International Conference on Neuromuscular Biology, Disease and Therapy - September 24-26, 2015, Ottawa, Canada.Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice.A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.In vivo assessment of contractile strength distinguishes differential gene function in skeletal muscle of zebrafish larvae.Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.Myopathology in the times of modern genetics.Congenital myopathies: clinical phenotypes and new diagnostic tools.The histone code reader Spin1 controls skeletal muscle development.Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation.Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.Muscle dysfunction caused by loss of Magel2 in a mouse model of Prader-Willi and Schaaf-Yang syndromes.Treating pediatric neuromuscular disorders: The future is now.Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients.
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P2860
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus
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2015 nî lūn-bûn
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2015 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի փետրվարին հրատարակված գիտական հոդված
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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name
Pathophysiological concepts in ...... undaries, sharpening the focus
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Pathophysiological concepts in ...... undaries, sharpening the focus
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Pathophysiological concepts in ...... undaries, sharpening the focus
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Pathophysiological concepts in ...... undaries, sharpening the focus
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Pathophysiological concepts in ...... undaries, sharpening the focus
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Pathophysiological concepts in ...... undaries, sharpening the focus
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P2093
Carsten G Bönnemann
Gianina Ravenscroft
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10.1093/BRAIN/AWU368
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P577
2015-02-01T00:00:00Z