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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
Mouse
CAV3
Titin
RNA interference
Laminopathies
INPP5K
Lamin A/C nuclei
Dilated cardiomyopathy
Butyrylcholinesterase
Laminopathy
CSF protein
IPSC
COVID-19
Becker muscular dystrophy
Nuclear envelope
Acetyltransferase
AAV
Regeneration
Maladies rares
Rare diseases
BVES
Treatment
BiP
Adult SMA
Centronuclear myopathy
Base de données FAIR
Biological sciences
Treatment delay
Dynamin 2
Cardiomyopathy
Myopathy
COL6A1
Myopathies
Patient registry
Allele-specific silencing
Skeletal muscle
Heart
POPDC1
Joint laxity
Ehlers‐Danlos Syndrome
Clinical trial
COL1A1
Rare neuromuscular diseases
Dystrophine
CMTX
Next generation sequencing
Errance diagnostique
Gene therapy
Congenital muscular dystrophy
Muscular dystrophy MD
Myotubes
Laminopathie
Lamins
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Calcium handling
C2C12
Cancer biomarkers
Myologie
Allele‐specific silencing therapy
Heart failure
Angiotensin-converting enzyme inhibitor
Exome
Muscular dystrophy
Therapy
Emerin
Mutations
Dystrophie musculaire
A-type lamin
Muscle MRI
Angiotensin-converting enzyme inhibitors
Lamin A/C
Allele-specific silencing therapy
Autophagosome maturation
Cardiac conduction system
LGMD
Lamin A/C LMNA gene
Maladies rares et orphelines
CRISPR
Muscle biopsy
Actionable gene
Myogenesis
A-type lamins
Duchenne muscular dystrophy
Cancer
Emery-Dreifuss muscular dystrophy
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
LMNA-related congenital muscular dystrophy
Actionability
Biomarker
AAV VECTOR
GNE
Muscle
Connective tissue
Neuromuscular diseases
LMNA gene
Alternative splicing
LMNA
Hypermobile EDS
C elegans