Loading...
Derniers dépôts
-
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⟩
-
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⟩
-
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⟩
-
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⟩
-
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⟩
-
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⟩
-
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⟩
Nombre de documents
773
Nombre de notices
1 376
widget_cloud
Male
Biomarkers
AAV
Becker muscular dystrophy
Antisense oligonucleotides
Heart failure
Inflammation
Myopathy
Aged
Transcriptomics
Regeneration
Therapy
COVID-19
Myasthenia gravis
Brain
Biomarker
Neuromuscular junction
FSHD
Laminopathie
Myasthenia Gravis MG
Autoimmunity
CMS
Mechanotransduction
Rare neuromuscular diseases
Dermatomyositis
Congenital muscular dystrophy
Dystrophin
Myopathies
Amyotrophic lateral sclerosis
Fibrosis
Myositis
Cardiomyopathy
Muscle regeneration
Lamin A/C LMNA gene
Heart
Diagnosis
Autophagy
Cytoskeleton
Cancer
Nuclear envelope
Myotonic dystrophy
Exercise
Clinical trials
Cytokines
CTG repeat contractions
RNA biology
Genotype phenotype correlation
Transgenic mouse model
Treatment
Motoneuron
Errance diagnostique
Muscle
PABPN1
Rare diseases
ALS
Aging
Lamin A/C
Satellite cell
Myotonic Dystrophy
OPMD
Myogenesis
Fabry disease
Neuromuscular disease
Autoimmune diseases
LMNA
Calcium
Mouse model
Long read sequencing
Alternative splicing
Laminopathy
DMD
Actin
Cell therapy
Myotonic Dystrophy type 1
Centronuclear myopathy
Skeletal muscle
Satellite cells
Thérapie génique
MBNL
Laminopathies
RNA interference
Myotonic dystrophy type 1
Muscular dystrophy
Outcome measures
CRISPRi
Autoantibodies
Dilated cardiomyopathy
Dynamin 2
Animals
Humans
Thymus
Congenital myopathy
Astrocyte
Glutamate
Neuromuscular diseases
Gene therapy
Myoblasts
Trinucleotide repeat expansion
LMNA gene
Duchenne muscular dystrophy