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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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Édouard Berling, Camille Verebi, Nadia Venturelli, Stéphane Vassilopoulos, Anthony Béhin, et al.. Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort. European Journal of Neurology, 2023, 30 (8), p.2506-2517. ⟨10.1111/ene.15832⟩. ⟨hal-04190879⟩
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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
127
Publications avec texte intégral
1
Données de recherche
Open Access
48 %
Mots clés
Diagnosis
Hypermobile EDS
Treatment
Treatment delay
COL6A1
BiP
Allele-specific silencing
CSF protein
Dynamin 2
Butyrylcholinesterase
Joint laxity
Muscle biopsy
Connective tissue
Becker muscular dystrophy
LMNA gene
Rare diseases
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Errance diagnostique
Skeletal muscle
Patient registry
Mutations
Next generation sequencing
GNE
IPSC
Lamin A/C
Laminopathie
Titin
Calcium handling
LGMD
Neuromuscular diseases
Mouse
A-type lamins
Angiotensin-converting enzyme inhibitor
Base de données FAIR
C2C12
CMTX
Duchenne muscular dystrophy
Myogenesis
POPDC1
Nuclear envelope
AAV
Cancer
Cancer biomarkers
Allele‐specific silencing therapy
Actionable gene
Dilated cardiomyopathy
BVES
Ehlers‐Danlos Syndrome
Heart
Regeneration
COL1A1
Acetyltransferase
Clinical trial
A-type lamin
Myologie
Alternative splicing
Muscle MRI
Congenital muscular dystrophy
Muscular dystrophy
Actionability
Angiotensin-converting enzyme inhibitors
Cardiomyopathy
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
CAV3
Maladies rares
Centronuclear myopathy
Dystrophine
Laminopathies
Emery-Dreifuss muscular dystrophy
Therapy
CRISPR
Muscular dystrophy MD
C elegans
INPP5K
Lamin A/C nuclei
Heart failure
Muscle
LMNA
Lamins
Gene therapy
LMNA-related congenital muscular dystrophy
Allele-specific silencing therapy
Emerin
Exome
Dystrophie musculaire
Autophagosome maturation
COVID-19
Biological sciences
Cardiac conduction system
Lamin A/C LMNA gene
Myopathies
Rare neuromuscular diseases
AAV VECTOR
Adult SMA
Maladies rares et orphelines
Myotubes
Laminopathy
Myopathy
Biomarker
RNA interference