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

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