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