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Derniers dépôts
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Marie Bahout, Gianmarco Severa, Emna Kamoun, Françoise Bouhour, Antoine Pegat, et al.. MYH7 -related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort. Journal of Neurology, Neurosurgery and Psychiatry, 2024, jnnp-2024-334263. ⟨10.1136/jnnp-2024-334263⟩. ⟨hal-04761813⟩
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Pauline Garcia, William Jarassier, Caroline Brun, Lorenzo Giordani, Fany Agostini, et al.. Setdb1 protects genome integrity in murine muscle stem cells to allow for regenerative myogenesis and inflammation. Developmental Cell, 2024, 59 (17), pp.2375-2392.e8. ⟨10.1016/j.devcel.2024.05.012⟩. ⟨hal-04747691⟩
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Marissa Gionet-Gonzales, Alena Casella, Daphne Diloretto, Clara Ginnell, Katherine Griffin, et al.. Sulfated Alginate Hydrogels Prolong the Therapeutic Potential of MSC Spheroids by Sequestering the Secretome. Advanced Healthcare Materials, 2021, 10 (21), pp.2101048. ⟨10.1002/adhm.202101048⟩. ⟨hal-03832652⟩
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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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Congenital muscular dystrophy
Lamin A/C
Myasthenia Gravis MG
Biomarkers
Biomarker
Dystrophin
Exercise
Cytokines
DMD
Mechanotransduction
RNA interference
Myotonic Dystrophy
Lamin A/C LMNA gene
Thymus
Skeletal muscle
Long read sequencing
Antisense oligonucleotides
Mice
Astrocyte
COVID-19
Cardiomyopathy
Myositis
Humans
AAV
Calcium
Laminopathies
Actin
Spinal muscular atrophy
Myasthenia gravis
FSHD
Myotonic dystrophy
Outcome measures
Aged
Aging
Fibrosis
Autoantibodies
Animals
Myoblasts
Becker muscular dystrophy
Cell therapy
Errance diagnostique
Centronuclear myopathy
Heart failure
Autoimmunity
CMS
ALS
Amyotrophic lateral sclerosis
Laminopathy
Neuromuscular disease
LMNA gene
Motoneuron
Neuromuscular junction
RNA biology
Dynamin 2
Gene therapy
CTG repeat contractions
Neuromuscular diseases
Regeneration
Glutamate
Thérapie génique
Dilated cardiomyopathy
Myotonic dystrophy type 1
Muscular dystrophy
Muscle regeneration
CRISPRi
OPMD
Satellite cell
Duchenne muscular dystrophy
Genetics
Dermatomyositis
Male
MBNL
Myopathies
Satellite cells
Rare neuromuscular diseases
Laminopathie
Transcriptomics
Myopathy
Autoimmune diseases
Trinucleotide repeat expansion
Myotonic Dystrophy type 1
Rare diseases
Cytoskeleton
Nuclear envelope
LMNA
PABPN1
Inflammation
Brain
Mouse model
Transgenic mouse model
Autophagy
Congenital myopathy
Therapy
Myogenesis
Alternative splicing
Treatment
Heart
Fabry disease
Muscle
Genotype phenotype correlation