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Derniers dépôts
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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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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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Lidia Almenara-Fuentes, Silvia Rodriguez-Fernandez, Estela Rosell-Mases, Katerina Kachler, Axel You, et al.. A new platform for autoimmune diseases. Inducing tolerance with liposomes encapsulating autoantigens. Nanomedicine: Nanotechnology, Biology and Medicine, 2023, pp.102635. ⟨10.1016/j.nano.2022.102635⟩. ⟨hal-03885962⟩
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CRISPRi
Trinucleotide repeat expansion
Humans
Myositis
Brain
Heart
RNA biology
Genotype phenotype correlation
Cell therapy
Mouse model
Thérapie génique
Transgenic mouse model
DMD
Muscle regeneration
Astrocyte
PABPN1
Inflammation
CMS
LMNA
Biomarkers
Errance diagnostique
Cytoskeleton
Lamin A/C
Myasthenia Gravis MG
Neuromuscular junction
Therapy
Thymus
Fibrosis
Lamin A/C LMNA gene
Myotonic dystrophy
Laminopathy
Glutamate
Mechanotransduction
Clinical trials
Exercise
Treatment
Amyotrophic lateral sclerosis
Fabry disease
Dermatomyositis
Myotonic dystrophy type 1
COVID-19
Regeneration
Alternative splicing
Laminopathies
Muscular dystrophy
Cytokines
Duchenne muscular dystrophy
Transcriptomics
AAV
MBNL
Myotonic Dystrophy
ALS
Neuromuscular diseases
Cancer
Rare neuromuscular diseases
OPMD
Satellite cells
Outcome measures
Myopathy
Neuromuscular disease
Long read sequencing
Centronuclear myopathy
Antisense oligonucleotides
Actin
Congenital muscular dystrophy
RNA interference
Myasthenia gravis
Biomarker
Male
Laminopathie
CTG repeat contractions
Myopathies
Animals
Heart failure
Muscle
Motoneuron
Congenital myopathy
LMNA gene
Nuclear envelope
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Rare diseases
Dilated cardiomyopathy
Myotonic Dystrophy type 1
Autoantibodies
Myogenesis
Becker muscular dystrophy
Calcium
Autoimmune diseases
Aged
Myoblasts
Skeletal muscle
Gene therapy
Autoimmunity
Dynamin 2
FSHD
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Autophagy
Aging