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