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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⟩
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Chiffres clés
121
Publications with fulltext
1
Research data
Open Access
47 %
Mots clés
Allele-specific silencing
Lamin A/C nuclei
Muscle biopsy
Errance diagnostique
Mutations
Congenital muscular dystrophy
Treatment
Gene therapy
Biological sciences
Regeneration
Joint laxity
LMNA gene
Calcium handling
Mouse
A-type lamin
Autophagosome maturation
C2C12
Lamins
CRISPR
Duchenne muscular dystrophy
COL6A1
AAV
Diagnosis
Centronuclear myopathy
Rare neuromuscular diseases
Dynamin 2
Myopathies
A-type lamins
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Myopathy
Heart failure
Neuromuscular diseases
Heart
LMNA-related congenital muscular dystrophy
Cardiology
POPDC1
Cancer
Allele-specific silencing therapy
COVID-19
Treatment delay
Hypermobile EDS
Dystrophine
CMTX
Skeletal muscle
Allele‐specific silencing therapy
Myologie
Adult SMA
Alternative splicing
LGMD
Clinical trial
Acetyltransferase
CSF protein
GNE
Emery-Dreifuss muscular dystrophy
Ehlers‐Danlos Syndrome
Cancer biomarkers
Muscular dystrophy
Nuclear envelope
Dystrophie musculaire
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Emerin
Base de données FAIR
Lamin A/C LMNA gene
Rare diseases
Cardiac conduction system
BiP
COL1A1
Dilated cardiomyopathy
Muscle MRI
INPP5K
RNA interference
Myogenesis
IPSC
Patient registry
C elegans
Next generation sequencing
Becker muscular dystrophy
Therapy
BVES
LMNA
Myotubes
Actionability
Actionable gene
Muscle
Maladies rares et orphelines
AAV VECTOR
Exome
Cardiomyopathy
Laminopathies
Maladies rares
Biomarker
Angiotensin-converting enzyme inhibitors
Laminopathy
Lamin A/C
Titin
Laminopathie
Connective tissue
Butyrylcholinesterase
Angiotensin-converting enzyme inhibitor
Muscular dystrophy MD