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