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