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