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