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