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Derniers dépôts
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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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Vanessa Ueberschlag-Pitiot, Amalia Stantzou, Julien Messéant, Megane Lemaitre, Daniel Owens, et al.. Gonad-related factors promote muscle performance gain during postnatal development in male and female mice. AJP - Endocrinology and Metabolism, 2017, 313 (1), pp.E12-E25. ⟨10.1152/ajpendo.00446.2016⟩. ⟨hal-03677800⟩
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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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Medhi Hassani, Dylan Moutachi, Mégane Lemaitre, Alexis Boulinguiez, Denis Furling, et al.. Beneficial effects of resistance training on both mild and severe mouse dystrophic muscle function as a preclinical option for Duchenne muscular dystrophy. PLoS ONE, 2024, 19, ⟨10.1371/journal.pone.0295700⟩. ⟨hal-04501283⟩
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Pierre Joanne, Yeranuhi Hovhannisyan, Alexandre Simon, Gaëlle Revet, Romain Diot, et al.. Generation of human induced pluripotent stem cell lines from five patients with Myofibrillar myopathy carrying different heterozygous mutations in the DES gene. Stem Cell Research, 2024, 76, pp.103338. ⟨10.1016/j.scr.2024.103338⟩. ⟨hal-04466294⟩
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Pascal Laforêt, Michio Inoue, Evelyne Goillot, Claire Lefeuvre, Umut Cagin, et al.. Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment. Acta Neuropathologica Communications, 2019, 7 (1), ⟨10.1186/s40478-019-0815-2⟩. ⟨hal-02414161⟩
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Florence Boisgérault, Amine Meliani, Romain Hardet, Solenne Marmier, Fanny Collaud, et al.. Antigen-selective modulation of AAV immunogenicity with tolerogenic rapamycin nanoparticles enables successful vector re-administration. Nature Communications, 2018, 9 (1), pp.4098. ⟨10.1038/s41467-018-06621-3⟩. ⟨hal-02177709⟩
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Exercise
Myogenesis
Myositis
Heart
Nuclear envelope
Rare neuromuscular diseases
Dilated cardiomyopathy
Mouse model
CTG repeat contractions
Myotonic dystrophy type 1
Cytoskeleton
DMD
Myoblasts
Laminopathie
Myotonic Dystrophy type 1
Humans
Dermatomyositis
Actin
Centronuclear myopathy
Astrocyte
Clinical trials
Myasthenia gravis
Neuromuscular diseases
Aging
OPMD
Transgenic mouse model
Therapy
Calcium
Muscular dystrophy
Autoimmune diseases
Myopathy
Becker muscular dystrophy
Myotonic dystrophy
Congenital muscular dystrophy
Diagnosis
ALS
Satellite cell
Myasthenia Gravis MG
Errance diagnostique
Lamin A/C LMNA gene
Cell therapy
Treatment
LMNA gene
Heart failure
Genotype phenotype correlation
Dystrophin
Fabry disease
Autophagy
Satellite cells
Male
Muscle regeneration
AAV
FSHD
Congenital myopathy
Aged
RNA interference
Muscle
Cytokines
Cancer
Laminopathy
Myopathies
Mechanotransduction
Neuromuscular disease
Alternative splicing
Motoneuron
Transcriptomics
Myotonic Dystrophy
Trinucleotide repeat expansion
Cardiomyopathy
Autoantibodies
PABPN1
Autoimmunity
Neuromuscular junction
CMS
Skeletal muscle
Biomarkers
Outcome measures
Thérapie génique
COVID-19
Long read sequencing
Animals
Duchenne muscular dystrophy
Rare diseases
LMNA
Gene therapy
RNA biology
Dynamin 2
Regeneration
Inflammation
Biomarker
Laminopathies
Brain
Glutamate
CRISPRi
Fibrosis
Thymus
MBNL
Amyotrophic lateral sclerosis
Antisense oligonucleotides
Lamin A/C