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Human Molecular Genetics|August 10, 2019
Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophyDarija Šoltić, Hannah K Shorrock, Hazel Allardyce, et al.
JCI Insight|June 15, 2023
Individual transcriptomic response to strength training for patients with myotonic dystrophy type 1Emily E Davey, Cécilia Légaré, Lori Planco, et al.
Human Molecular Genetics|May 13, 2016
Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophyGillian Hunter, Rachael A Powis, Ross A Jones, et al.
Human Molecular Genetics|July 27, 2023
AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn2B/- spinal muscular atrophy miceSharon J Brown, Darija Šoltić, Silvia A Synowsky, et al.
Human Molecular Genetics|May 24, 2018
Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophyEwout J N Groen, Elena Perenthaler, Natalie L Courtney, et al.
Brain : a Journal of Neurology|September 22, 2018
UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophyHannah K Shorrock, Dinja van der Hoorn, Penelope J Boyd, et al.
Nucleic Acids Research|August 18, 2022
Disease-associated inosine misincorporation into RNA hinders translationJacob H Schroader, Lindsey A Jones, Ryan Meng, et al.
Annals of Neurology|June 17, 2026
Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant SplicingIsabel Soto, Michael Bonomo, Brianna S Nelthrope, et al.
Brain : a Journal of Neurology|September 30, 2023
Widespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxiasHannah K Shorrock, Claudia D Lennon, Asmer Aliyeva, et al.
Cell Reports|October 26, 2017
In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome BiologyPaola Bernabò, Toma Tebaldi, Ewout J N Groen, et al.
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