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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
122
Publications avec texte intégral
1
Données de recherche
Open Access
48 %
Mots clés
BVES
Laminopathies
Treatment delay
C elegans
Regeneration
Dilated cardiomyopathy
AAV VECTOR
Dynamin 2
GNE
Lamins
COL1A1
Centronuclear myopathy
Lamin A/C LMNA gene
Cancer biomarkers
POPDC1
Myopathies
Myotubes
Dystrophine
Myologie
Cardiac conduction system
Mouse
Myogenesis
Autophagosome maturation
Biological sciences
A-type lamin
Hypermobile EDS
Laminopathie
Cardiology
AAV
Muscle
Lamin A/C
Therapy
Diagnosis
Dystrophie musculaire
Connective tissue
LMNA gene
Duchenne muscular dystrophy
Next generation sequencing
Allele-specific silencing
Neuromuscular diseases
RNA interference
LMNA-related congenital muscular dystrophy
Patient registry
Rare neuromuscular diseases
Butyrylcholinesterase
COL6A1
Acetyltransferase
Heart
Muscle MRI
Errance diagnostique
Adult SMA
Base de données FAIR
Heart failure
Maladies rares et orphelines
Titin
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Myopathy
Muscle biopsy
Rare diseases
CRISPR
Laminopathy
Cardiomyopathy
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Alternative splicing
INPP5K
CSF protein
LMNA
Actionability
A-type lamins
Nuclear envelope
Mutations
Actionable gene
Allele‐specific silencing therapy
Becker muscular dystrophy
Emerin
Joint laxity
Exome
Clinical trial
Allele-specific silencing therapy
LGMD
C2C12
IPSC
Calcium handling
CMTX
Muscular dystrophy MD
Skeletal muscle
Ehlers‐Danlos Syndrome
Muscular dystrophy
Biomarker
Maladies rares
Treatment
Cancer
Angiotensin-converting enzyme inhibitor
Gene therapy
Lamin A/C nuclei
Angiotensin-converting enzyme inhibitors
COVID-19
Emery-Dreifuss muscular dystrophy
Congenital muscular dystrophy
BiP