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