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

Dernières publications

Chiffres clés

125 Publications avec texte intégral
1 Données de recherche

Open Access

48 %

Mots clés

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