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Dernières publications
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Luce Barbat Du Closel, Nathalie Bonello-Palot, Yann Pereon, Andoni Echaniz-Laguna, Jean Philippe Camdessanche, et al.. Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease. European Journal of Neurology, 2023, 30 (10), pp.3265-3276. ⟨10.1111/ene.15937⟩. ⟨hal-04254200⟩
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Lorenzo Maggi, Susana Quijano-Roy, Carsten Bönnemann, Gisèle Bonne. 253rd ENMC international workshop: Striated muscle laminopathies - natural history and clinical trial readiness. 24-26 June 2022, Hoofddorp, The Netherlands. Neuromuscular Disorders, 2023, ⟨10.1016/j.nmd.2023.04.009⟩. ⟨hal-04086238⟩
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Clémence Labasse, Guy Brochier, Ana-Lia Taratuto, Bruno Cadot, John Rendu, et al.. Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies. Acta Neuropathologica Communications, 2022, 10 (1), pp.101. ⟨10.1186/s40478-022-01400-0⟩. ⟨hal-03820052⟩
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Maude Vecten, Emmanuelle Pion, Marc Bartoli, Raul Juntas Morales, Damien Sternberg, et al.. Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care. International Journal of Molecular Sciences, 2022, 23 (15), pp.8506. ⟨10.3390/ijms23158506⟩. ⟨hal-03751530⟩
Chiffres clés
118
Publications avec texte intégral
1
Données de recherche
Open Access
47 %
Mots clés
Myogenesis
LMNA
BVES
Laminopathy
COL1A1
Regeneration
Myologie
CRISPR
Cancer biomarkers
Lamin A/C nuclei
POPDC1
GNE
Mutations
Rare diseases
A-type lamin
Neuromuscular diseases
C2C12
Acetyltransferase
COVID-19
Actionable gene
Laminopathies
Myotubes
Biomarker
Cardiomyopathy
Next generation sequencing
Heart failure
Nuclear envelope
INPP5K
Lamin A/C
Calcium handling
Cancer
Emery-Dreifuss muscular dystrophy
Exome
Connective tissue
A-type lamins
BiP
Treatment delay
Congenital muscular dystrophy
Errance diagnostique
Dilated cardiomyopathy
Cardiovascular disease
Allele-specific silencing
Dystrophie musculaire
Allele‐specific silencing therapy
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
Muscular dystrophy
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Muscular dystrophy MD
Actionability
Maladies rares
LMNA gene
Dynamin 2
Cardiology
Angiotensin-converting enzyme inhibitor
Ehlers‐Danlos Syndrome
Therapy
Adult SMA
CMTX
COL6A1
Alternative splicing
Lamin A/C LMNA gene
Diagnosis
Rare neuromuscular diseases
Autophagosome maturation
Skeletal muscle
Patient registry
C elegans
Mouse
Emerin
Cell biology
Butyrylcholinesterase
Becker muscular dystrophy
Biological sciences
IPSC
Centronuclear myopathy
Dystrophine
RNA interference
CSF protein
Myopathy
Clinical trial
Angiotensin-converting enzyme inhibitors
Titin
Laminopathie
Duchenne muscular dystrophy
Maladies rares et orphelines
Heart
Gene therapy
Joint laxity
Treatment
AAV
Cardiac conduction system
Muscle
LMNA-related congenital muscular dystrophy
Lamins
Base de données FAIR
LGMD
AAV VECTOR
Hypermobile EDS
Myopathies