Loading...
Dernières publications
-
-
-
Hubert Smeets, Bram Verbrugge, Xavier Bulbena, Liliya Hristova, Julia Vogt, et al.. European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17–19, 2023, Barcelona, Spain. LAMA2-muscular dystrophy: paving the road to therapy, Neuromuscular Disorders, 36, pp.16 - 22, 2024, ⟨10.1016/j.nmd.2024.01.001⟩. ⟨hal-04546346⟩
-
-
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⟩
-
-
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⟩
-
-
-
Chiffres clés
120
Publications avec texte intégral
1
Données de recherche
Open Access
47 %
Mots clés
Treatment
RNA interference
Lamins
Hypermobile EDS
COL1A1
Calcium handling
Heart failure
Rare diseases
AAV
LGMD
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
BVES
Nuclear envelope
CMTX
Skeletal muscle
Myopathies
Cancer
Allele-specific silencing therapy
CRISPR
Biological sciences
Maladies rares et orphelines
Autophagosome maturation
Heart
Muscular dystrophy MD
Mutations
Cardiology
Mouse
Duchenne muscular dystrophy
Therapy
Laminopathie
CSF protein
Dilated cardiomyopathy
Cardiomyopathy
Patient registry
Muscle
LMNA
Lamin A/C nuclei
Diagnosis
A-type lamin
Butyrylcholinesterase
Congenital muscular dystrophy
Treatment delay
Angiotensin-converting enzyme inhibitors
Titin
Connective tissue
Laminopathy
Muscle MRI
LMNA gene
Dynamin 2
Cancer biomarkers
Errance diagnostique
AAV VECTOR
Dystrophine
BiP
Acetyltransferase
Rare neuromuscular diseases
Maladies rares
Ehlers‐Danlos Syndrome
Muscle biopsy
Emerin
COVID-19
Dystrophie musculaire
Allele‐specific silencing therapy
POPDC1
IPSC
Angiotensin-converting enzyme inhibitor
Centronuclear myopathy
Lamin A/C LMNA gene
Biomarker
Myotubes
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
A-type lamins
Adult SMA
Emery-Dreifuss muscular dystrophy
Regeneration
Exome
Neuromuscular diseases
Alternative splicing
COL6A1
C elegans
Next generation sequencing
Becker muscular dystrophy
Myologie
GNE
C2C12
LMNA-related congenital muscular dystrophy
Gene therapy
Actionability
Cardiac conduction system
Actionable gene
Myogenesis
Joint laxity
INPP5K
Clinical trial
Muscular dystrophy
Myopathy
Laminopathies
Allele-specific silencing
Lamin A/C
Base de données FAIR