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