index - Génétique et physiopathologie des MNM liées à la matrice extracellulaire et du noyau

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Base de données FAIR Next generation sequencing Myopathy Regeneration Rare neuromuscular diseases Cardiomyopathy Connective tissue Angiotensin-converting enzyme inhibitor Laminopathie LGMD Lamin A/C nuclei Dilated cardiomyopathy Exome Muscular dystrophy Patient registry Butyrylcholinesterase IPSC C elegans Cancer Heart failure Cancer biomarkers Alternative splicing Centronuclear myopathy AAV Duchenne muscular dystrophy LMNA Muscle biopsy Maladies rares Becker muscular dystrophy Rare diseases Mutations Treatment delay CRISPR Titin Muscle MRI Allele‐specific silencing therapy Muscle Gene therapy RNA interference Congenital muscular dystrophy Clinical trial Dystrophine Nuclear envelope CSF protein Diagnosis Emery-Dreifuss muscular dystrophy COL6A1 COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders Actionable gene AAV VECTOR Laminopathy Autophagosome maturation Laminopathies Therapy A-type lamins Mouse Cardiac conduction system Calcium handling COVID-19 Myogenesis Lamins LMNA gene Errance diagnostique BVES Emerin Skeletal muscle Joint laxity Allele-specific silencing therapy Adult SMA CMTX Dynamin 2 Treatment Myotubes POPDC1 Cardiology Lamin A/C Myopathies BiP Acetyltransferase Ehlers‐Danlos Syndrome Actionability Myologie C2C12 Hypermobile EDS Allele-specific silencing GNE Neuromuscular diseases INPP5K Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS COL1A1 Biological sciences LMNA-related congenital muscular dystrophy Muscular dystrophy MD Angiotensin-converting enzyme inhibitors Dystrophie musculaire Maladies rares et orphelines Heart Lamin A/C LMNA gene A-type lamin Biomarker