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

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