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