Dernières publications

Chiffres clés

127 Publications avec texte intégral
1 Données de recherche

Open Access

48 %

Mots clés

Diagnosis Mouse CAV3 Titin RNA interference Laminopathies INPP5K Lamin A/C nuclei Dilated cardiomyopathy Butyrylcholinesterase Laminopathy CSF protein IPSC COVID-19 Becker muscular dystrophy Nuclear envelope Acetyltransferase AAV Regeneration Maladies rares Rare diseases BVES Treatment BiP Adult SMA Centronuclear myopathy Base de données FAIR Biological sciences Treatment delay Dynamin 2 Cardiomyopathy Myopathy COL6A1 Myopathies Patient registry Allele-specific silencing Skeletal muscle Heart POPDC1 Joint laxity Ehlers‐Danlos Syndrome Clinical trial COL1A1 Rare neuromuscular diseases Dystrophine CMTX Next generation sequencing Errance diagnostique Gene therapy Congenital muscular dystrophy Muscular dystrophy MD Myotubes Laminopathie Lamins Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS Calcium handling C2C12 Cancer biomarkers Myologie Allele‐specific silencing therapy Heart failure Angiotensin-converting enzyme inhibitor Exome Muscular dystrophy Therapy Emerin Mutations Dystrophie musculaire A-type lamin Muscle MRI Angiotensin-converting enzyme inhibitors Lamin A/C Allele-specific silencing therapy Autophagosome maturation Cardiac conduction system LGMD Lamin A/C LMNA gene Maladies rares et orphelines CRISPR Muscle biopsy Actionable gene Myogenesis A-type lamins Duchenne muscular dystrophy Cancer Emery-Dreifuss muscular dystrophy COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders LMNA-related congenital muscular dystrophy Actionability Biomarker AAV VECTOR GNE Muscle Connective tissue Neuromuscular diseases LMNA gene Alternative splicing LMNA Hypermobile EDS C elegans