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Dernières publications
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Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, et al.. EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders. Orphanet Journal of Rare Diseases, 2024, 19 (1), pp.66. ⟨10.1186/s13023-024-03059-3⟩. ⟨hal-04460667⟩
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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
121
Publications avec texte intégral
1
Données de recherche
Open Access
48 %
Mots clés
Therapy
Laminopathie
Lamins
GNE
Laminopathies
Dilated cardiomyopathy
Butyrylcholinesterase
Allele-specific silencing
COVID-19
Actionable gene
POPDC1
Angiotensin-converting enzyme inhibitor
Muscle biopsy
AAV VECTOR
Dystrophie musculaire
Rare diseases
Lamin A/C
A-type lamin
Errance diagnostique
Maladies rares et orphelines
Myopathies
LMNA gene
Muscular dystrophy
Biomarker
Lamin A/C LMNA gene
Myotubes
Rare neuromuscular diseases
CRISPR
Centronuclear myopathy
Calcium handling
Clinical trial
Cardiology
Autophagosome maturation
Myologie
Mouse
Myopathy
Allele-specific silencing therapy
C elegans
Angiotensin-converting enzyme inhibitors
Biological sciences
Regeneration
Hypermobile EDS
Titin
Adult SMA
Neuromuscular diseases
Dynamin 2
Congenital muscular dystrophy
BVES
Next generation sequencing
Cancer
Muscle MRI
AAV
Heart
LGMD
Duchenne muscular dystrophy
A-type lamins
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Mutations
CMTX
Becker muscular dystrophy
LMNA
Ehlers‐Danlos Syndrome
Myogenesis
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Allele‐specific silencing therapy
Heart failure
Actionability
Exome
Nuclear envelope
INPP5K
Cancer biomarkers
COL1A1
Maladies rares
Emery-Dreifuss muscular dystrophy
Base de données FAIR
Diagnosis
Lamin A/C nuclei
Joint laxity
RNA interference
Cardiac conduction system
Emerin
Muscle
Patient registry
Treatment
Connective tissue
Dystrophine
Acetyltransferase
Alternative splicing
Laminopathy
Skeletal muscle
Gene therapy
BiP
IPSC
C2C12
Cardiomyopathy
Muscular dystrophy MD
Treatment delay
LMNA-related congenital muscular dystrophy
COL6A1
CSF protein