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