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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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Chiffres clés
129
Publications avec texte intégral
1
Données de recherche
Open Access
48 %
Mots clés
COVID-19
Gene
Connective tissue
CAV3
Mouse
Actionability
Dystrophine
Clinical trial
Nuclear envelope
CSF protein
Cardiomyopathy
A-type lamin
AAV VECTOR
Acetyltransferase
Allele-specific silencing therapy
Maladies rares
Myotubes
INPP5K
Therapy
Joint laxity
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Muscular dystrophy MD
Muscular dystrophy
Heart
Muscle MRI
Dilated cardiomyopathy
Errance diagnostique
Emery-Dreifuss muscular dystrophy
Myogenesis
AAV
Diagnosis
COL1A1
Exome
C2C12
Rare neuromuscular diseases
Laminopathy
BiP
Laminopathie
RNA interference
Biomarker
COL6A1
Lamins
Duchenne muscular dystrophy
BVES
Heart failure
POPDC1
LMNA-related congenital muscular dystrophy
Lamin A/C LMNA gene
Lamin A/C
CRISPR
Regeneration
Autophagosome maturation
Ehlers‐Danlos Syndrome
LMNA gene
Biological sciences
Laminopathies
CMTX
Hypermobile EDS
Mutations
Congenital muscular dystrophy
Treatment delay
Dynamin 2
Cancer biomarkers
C elegans
Maladies rares et orphelines
Patient registry
Titin
Myopathies
Muscle
Emerin
Muscle biopsy
LMNA
Actionable gene
Base de données FAIR
Myologie
Allele‐specific silencing therapy
Angiotensin-converting enzyme inhibitors
GNE
A-type lamins
Neuromuscular diseases
Gene therapy
Next generation sequencing
Becker muscular dystrophy
Rare diseases
LGMD
Allele-specific silencing
IPSC
Adult SMA
Calcium handling
Alternative splicing
Myopathy
Angiotensin-converting enzyme inhibitor
Dystrophie musculaire
Lamin A/C nuclei
Treatment
Skeletal muscle
Cancer
Centronuclear myopathy
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Butyrylcholinesterase