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