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Communications Medicine|February 15, 2023
Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patientsTommaso Nuzzo, Rosita Russo, Francesco Errico, et al.
Scientific Reports|July 3, 2019
Functional characterization of SMN evolution in mouse models of SMAErkan Y Osman, Madeline R Bolding, Eric Villalón, et al.
Cell|October 16, 2012
An SMN-dependent U12 splicing event essential for motor circuit functionFrancesco Lotti, Wendy L Imlach, Luciano Saieva, et al.
The Journal of Clinical Investigation|February 24, 2007
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophyAmy M Avila, Barrington G Burnett, Addis A Taye, et al.
Science Advances|September 5, 2025
Synaptic imbalance and increased inhibition impair motor function in SMAEmily V Fletcher, Joshua I Chalif, Travis M Rotterman, et al.
Biomolecules|October 27, 2022
Nusinersen Induces Disease-Severity-Specific Neurometabolic Effects in Spinal Muscular AtrophyFrancesco Errico, Carmen Marino, Manuela Grimaldi, et al.
The Journal of Clinical Investigation|July 26, 2011
Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophyCathleen M Lutz, Shingo Kariya, Sunita Patruni, et al.
Human Molecular Genetics|July 9, 2018
Mild SMN missense alleles are only functional in the presence of SMN2 in mammalsChitra C Iyer, Kaitlyn M Corlett, Aurélie Massoni-Laporte, et al.
Human Molecular Genetics|November 10, 2009
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophyMatthew E R Butchbach, Jasbir Singh, Margrét Thorsteinsdóttir, et al.
Neurobiology of Disease|February 26, 2025
Dysregulated balance of D- and L-amino acids modulating glutamatergic neurotransmission in severe spinal muscular atrophyAmber Hassan, Raffaella di Vito, Tommaso Nuzzo, et al.
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