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