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