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