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