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