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Dernières publications
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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⟩
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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⟩
Chiffres clés
120
Publications avec texte intégral
1
Données de recherche
Open Access
47 %
Mots clés
Treatment delay
COL1A1
Allele-specific silencing
Dynamin 2
A-type lamins
INPP5K
Muscle
Acetyltransferase
Clinical trial
Patient registry
COVID-19
Maladies rares
AAV
Dystrophie musculaire
Exome
Myopathy
BVES
Calcium handling
Lamin A/C nuclei
Cancer
Adult SMA
Treatment
Autophagosome maturation
Actionable gene
Actionability
RNA interference
Diagnosis
Myogenesis
Muscle biopsy
C elegans
C2C12
Allele-specific silencing therapy
CMTX
Cardiac conduction system
Allele‐specific silencing therapy
Muscular dystrophy
CSF protein
Laminopathie
Butyrylcholinesterase
Errance diagnostique
CRISPR
Myologie
Becker muscular dystrophy
A-type lamin
Muscle MRI
Biological sciences
Base de données FAIR
Muscular dystrophy MD
AAV VECTOR
Myopathies
Connective tissue
Cardiomyopathy
Regeneration
GNE
IPSC
Laminopathies
Rare neuromuscular diseases
Myotubes
LMNA
Lamin A/C LMNA gene
LMNA-related congenital muscular dystrophy
Rare diseases
Dystrophine
Joint laxity
Nuclear envelope
Centronuclear myopathy
Emery-Dreifuss muscular dystrophy
Congenital muscular dystrophy
LMNA gene
Angiotensin-converting enzyme inhibitors
Cancer biomarkers
Mouse
Hypermobile EDS
Mutations
Laminopathy
Biomarker
POPDC1
Neuromuscular diseases
Duchenne muscular dystrophy
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Therapy
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Heart
LGMD
Skeletal muscle
Titin
Lamins
Ehlers‐Danlos Syndrome
Heart failure
Cardiology
Next generation sequencing
Emerin
Angiotensin-converting enzyme inhibitor
Lamin A/C
Dilated cardiomyopathy
Gene therapy
COL6A1
BiP
Maladies rares et orphelines
Alternative splicing