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