Results 101 to 110 of about 2,169 (197)

Short Review on Currently Used Sample Preparation and Determination Methods of Risdiplam

Journal of Separation Science
ABSTRACTRisdiplam is a new therapeutic agent developed to treat spinal muscular atrophy (SMA), a genetic neurodegenerative disease caused by mutations in the SMN1 gene. Unlike previous invasive therapies, risdiplam offers the advantage of oral administration, significantly improving patient comfort and accessibility.
Balińska, Natalia, Ostrowska, Karolina, Studzińska, Sylwia   +2 more
openaire   +3 more sources

Autophagy in spinal muscular atrophy: from pathogenic mechanisms to therapeutic approaches [PDF]

© 2024 Rashid and Dimitriadi. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). https://creativecommons.org/licenses/by/4.0/Spinal muscular atrophy (SMA) is a devastating neuromuscular ...
Dimitriadi, Maria, Rashid, Saman
core   +2 more sources

Risdiplam

American Journal of Health-System Pharmacy, 2020
openaire   +2 more sources

Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom [PDF]

Background: Real-world data on the efficacy and safety of onasemnogene abeparvovec (OA) in spinal muscular atrophy (SMA) are needed, especially to overcome uncertainties around its use in older and heavier children.
Abbott, L, Atherton, M, Baranello, G, D'Urso, S, Dhawan, A, Douglas, I, Eyre, M, Fernandez-Garcia, MA, Gowda, V, Horrocks, I, Hughes, I, Illingworth, M, Jungbluth, H, Main, M, Majumdar, A, Manzur, A, Marco, SS, McCullagh, G, Milton, E, Munot, P, Muntoni, F, Murugan, A, Ong, M, Pinches, L, Reading, E, Scoto, M, Servais, L, Sheehan, J, Smith, H, Standing, E, Tirupathi, S, Vanegas, M, Vijayakumar, K, Warner, S, Willis, T, Wolfe, A, Wraige, E   +36 more
core  

Patient-specific responses to SMN2 splice-modifying treatments in spinal muscular atrophy fibroblasts

Molecular Therapy: Methods & Clinical Development
The availability of three therapies for the neuromuscular disease spinal muscular atrophy (SMA) highlights the need to match patients to the optimal treatment.
Ilaria Signoria, Maria M. Zwartkruis, Lotte Geerlofs, Elena Perenthaler, Kiterie M.E. Faller, Rachel James, Harriet McHale-Owen, Jared W. Green, Joris Kortooms, Sophie H. Snellen, Fay-Lynn Asselman, Thomas H. Gillingwater, Gabriella Viero, Renske I. Wadman, W. Ludo van der Pol, Ewout J.N. Groen   +15 more
doaj   +1 more source

Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophy [PDF]

This work was supported by an Agency for Science, Technology and Research (A*STAR) CDF grant number C210112024 (to CJJY). Acknowledgments to Dave Wee, Edward Manser, Frederick Bard, and Uttam Surana from A*STAR for scientific discussions and to Shaye ...
Darras, Basil T, Giadone, Richard M, Khong, Zi Jian, Koh, Hiromi Wl, Leow, Damien Meng-Kiat, Narayanan, Gunaseelan, Ng, Shi-Yan, Ng, Yang Kai, Ong, Wei-Yi, Parson, Simon H, Rubin, Lee L, Sobota, Radoslaw M, Tabaglio, Tommaso, Teo, Adrian Kk, Wang, Loo Chien, Yeo, Crystal Jj, Zhao, Tianyun   +16 more
core   +1 more source

Presymptomatic risdiplam treatment in an infant with homozygous SMN1 deletion and two SMN2 copies: age-appropriate motor development at 6 months

Egyptian Pediatric Association Gazette
Background Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by biallelic SMN1 deletion or mutation, leading to degeneration of anterior horn motor neurons.
Süleyman Şahin, Mehmet Alçı, Büşra Kaygusuz Aydemir, Fatma Sargın, Halil Çelik   +4 more
doaj   +1 more source

“Not Only Has She Survived, But She Lives a Happy Life”: Parents’ Perspectives and Experiences of a Novel Disease-Modifying Therapy for Spinal Muscular Atrophy in Sweden [PDF]

The objective of this prospective cohort study was to explore parents' perspectives of patients' experiences of the first available novel disease-modifying therapy for SMA in Sweden.
Cortina-Borja, Mario, Kreicbergs, Ulrika, Landfeldt, Erik, Sejersen, Thomas, Udo, Camilla   +4 more
core  

Male Reproduction in Spinal Muscular Atrophy (SMA) and the Potential Impact of Oral Survival of Motor Neuron 2 (SMN2) Pre-mRNA Splicing Modifiers

Neurology and Therapy
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletions or mutations in the survival of motor neuron 1 (SMN1) gene resulting in reduced levels of SMN protein.
Natan Bar-Chama, Bakri Elsheikh, Channa Hewamadduma, Carol Jean Guittari, Ksenija Gorni, Lutz Mueller   +5 more
doaj   +1 more source

Recent Advance in Disease Modifying Therapies for Spinal Muscular Atrophy

Acta Neurologica Taiwanica
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease characterized by progressive weakness and atrophy of skeletal muscles. With homozygous survival motor neuron 1 (SMN1) gene mutation, all SMA patients have at least one copy of ...
Li-Kai Tsai, Chen-Hung Ting, Yo-Tsen Liu, Cheng-Tsung Hsiao, Wen-Chin Weng, Society for Neurological Rare Disorders-Taiwan   +5 more
doaj   +1 more source