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