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