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