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