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