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Maria Chatzifrangkeskou, Caroline Le Dour, Wei Wu, John Morrow, Leroy Joseph, et al.. ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene. Human Molecular Genetics, 2016, 25 (11), pp.2220-2233. ⟨10.1093/hmg/ddw090⟩. ⟨hal-03862965⟩
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Emmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, Céline Tard, Jean-Baptiste Noury, et al.. Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments. Orphanet Journal of Rare Diseases, 2024, 19 (1), pp.24. ⟨10.1186/s13023-023-03008-6⟩. ⟨hal-04667757⟩
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Dylan Moutachi, Janek Hyzewicz, Pauline Roy, Mégane Lemaitre, Damien Bachasson, et al.. Treadmill running and mechanical overloading improved the strength of the plantaris muscle in the dystrophin‐desmin double knockout (DKO) mouse. The Journal of Physiology, In press, ⟨10.1113/JP286425⟩. ⟨hal-04643936⟩
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Francesco Galli, Laricia Bragg, Maira Rossi, Daisy Proietti, Laura Perani, et al.. Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy. EMBO Molecular Medicine, 2024, 16 (4), pp.927 - 944. ⟨10.1038/s44321-024-00031-3⟩. ⟨hal-04603972⟩
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Julia Pereira Lemos, Liliane Patrícia Gonçalves Tenório, Vincent Mouly, Gillian Butler-Browne, Daniella Arêas Mendes-Da-Cruz, et al.. T cell biology in neuromuscular disorders: a focus on Duchenne Muscular Dystrophy and Amyotrophic Lateral Sclerosis. Frontiers in Immunology, 2023, 14, pp.120283. ⟨10.3389/fimmu.2023.1202834⟩. ⟨hal-04603915⟩
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Angelos Gerassimopoulos, Céline Michaud, Mélanie Gaillet, Cyril Rousseau, Adriana Gonzalez, et al.. Santé et recours aux soins et à la prévention des travailleuses du sexe dominicaines vivant le long du fleuve Maroni. 6e journées des travaux scientifiques des soignant.e.s de Guyane, May 2023, Cayenne, Guyane française. ⟨hal-04585175⟩
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Joe-Elie Salem, Marie Bretagne, Baptiste Abbar, Sarah Leonard-Louis, Stéphane Ederhy, et al.. Abatacept/Ruxolitinib and Screening for Concomitant Respiratory Muscle Failure to Mitigate Fatality of Immune-Checkpoint Inhibitor Myocarditis. Cancer Discovery, 2023, 13 (5), pp.1100-1115. ⟨10.1158/2159-8290.CD-22-1180⟩. ⟨hal-04578810⟩
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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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Dermatomyositis
Cytoskeleton
Satellite cells
Alternative splicing
Dilated cardiomyopathy
Centronuclear myopathy
Amyotrophic lateral sclerosis
Aging
Fabry disease
Humans
Neuromuscular diseases
Laminopathies
Trinucleotide repeat expansion
DMD
Skeletal muscle
Spinal muscular atrophy
Regeneration
Laminopathie
AAV
Treatment
Glutamate
RNA biology
Neuromuscular disease
Long read sequencing
Antisense oligonucleotides
Errance diagnostique
Animals
Astrocyte
Cell therapy
Actin
Muscular dystrophy
Mechanotransduction
Myotonic Dystrophy
Mouse model
Motoneuron
Cardiomyopathy
Inflammation
ALS
Dynamin 2
Myasthenia gravis
Lamin A/C
Laminopathy
Myogenesis
Exercise
Nuclear envelope
Mice
Lamin A/C LMNA gene
LMNA
Gene therapy
Autophagy
Fibrosis
MBNL
Rare neuromuscular diseases
Myositis
Thérapie génique
Autoimmune diseases
Duchenne muscular dystrophy
Myotonic dystrophy type 1
Heart
LMNA gene
Myoblasts
Muscle
Myotonic Dystrophy type 1
Therapy
Aged
Cytokines
Cancer
Transcriptomics
Biomarker
Myopathies
Male
Becker muscular dystrophy
Heart failure
PABPN1
CRISPRi
Satellite cell
Brain
Myopathy
Congenital muscular dystrophy
Biomarkers
CMS
Muscle regeneration
Thymus
CTG repeat contractions
RNA interference
Myotonic dystrophy
COVID-19
Autoimmunity
Outcome measures
Calcium
Dystrophin
Neuromuscular junction
Congenital myopathy
Autoantibodies
Myasthenia Gravis MG
Rare diseases
OPMD
Genotype phenotype correlation
Transgenic mouse model
FSHD