Results 111 to 120 of about 6,101 (249)

Analysis of the efficacy and adverse effects of nusinersen in the treatment of children with spinal muscular atrophy in China

Brain and Behavior
Objective This study was based on a retrospective clinical observational cohort study of a two‐center application of nusinersen in China to evaluate the clinical efficacy and adverse effects of nusinersen in the treatment of SMA (spinal muscular atrophy)
Dan Li, Jie Yang, Xueying Wang, Lin Yang, Rong Luo, Shaoping Huang   +5 more
doaj   +1 more source

Comprehensive Clinical Evaluation of Nusinersen Based on Multi-criteria Decision Analysis Method

Xiehe Yixue Zazhi
ObjectiveTo provide a theoretical basis for different drug decision-making scenarios by conducting a comprehensive clinical evaluation of nusinersen.MethodsBased on the method of multi-criteria decision analysis, a comprehensive clinical evaluation index
QU Jinghan, LIU Xin, TIAN Xin, AN Pengjiao, XU Tingting, ZHANG Bo   +5 more
doaj   +1 more source

The ASO Nusinersen ameliorates motor function and prevents Cajal body disassembly and abnormal poly(A) RNA distribution in motor neurons from a Spinal Muscular Atrophy mouse model [PDF]

, 2020
: Spinal muscular atrophy (SMA) is a devastating autosomal recessive neuromuscular disease characterized by degeneration of spinal cord alpha motor neurons (αMNs). It is caused by the homozygous deletion or mutation of the survival motor neuron 1 (SMN1)
Medina Samamé, Luz Almudena
core  

A multidisciplinary approach to dosing nusinersen for spinal muscular atrophy

Neurology Clinical Practice, 2019
In December 2016, nusinersen gained FDA approval as the first pharmacologic treatment for spinal muscular atrophy (SMA), a disorder of motor neurons and the leading genetic cause of infant mortality. Nusinersen's intrathecal delivery requirement, strict dosage protocol, and accelerated FDA approval presented a challenge to health care centers hoping to
Allan M. Glanzman, Carla D. Zingariello, John F. Brandsema, Scott Dubow, Sabrina W. Yum, Elizabeth T. Drum, Alicia A. Henderson, Elizabeth Kichula, Oscar H. Mayer   +8 more
openaire   +3 more sources

Feature Engineering for the Prediction of Scoliosis in 5q‐Spinal Muscular Atrophy

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 1, February 2025.
ABSTRACT Background 5q‐Spinal muscular atrophy (SMA) is now one of the 5% treatable rare diseases worldwide. As disease‐modifying therapies alter disease progression and patient phenotypes, paediatricians and consulting disciplines face new unknowns in their treatment decisions. Conclusions made from historical patient data sets are now mostly limited,
Tu‐Lan Vu‐Han, Vikram Sunkara, Rodrigo Bermudez‐Schettino, Jakob Schwechten, Robin Runge, Carsten Perka, Tobias Winkler, Sebastian Pokutta, Claudia Weiß, Matthias Pumberger   +9 more
wiley   +1 more source

Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients [PDF]

, 2020
Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by mutations in survival motor neuron (SMN) 1 gene, resulting in a truncated SMN protein responsible for degeneration of brain stem and spinal motor neurons. The paralogous SMN2 gene
Andreetta, F, Arnoldi, MT, Baranello, G, Bernasconi, P, Bonanno, S, Gellera, C, Giagnorio, E, Maggi, L, Malacarne, C, Mantegazza, R, Marcuzzo, S, Masson, R, Pantaleoni, C, Simoncini, O, Venerando, A, Zanin, R   +15 more
core  

The Expanding Landscape of Alternative Splicing Variation in Human Populations. [PDF]

, 2018
Alternative splicing is a tightly regulated biological process by which the number of gene products for any given gene can be greatly expanded. Genomic variants in splicing regulatory sequences can disrupt splicing and cause disease.
Lin, Lan, Pan, Zhicheng, Park, Eddie, Xing, Yi, Zhang, Zijun   +4 more
core   +1 more source

The dynamic of changes of pNFH levels in the CSF compared with the motor scales’ scores during three years of nusinersen treatment in children with spinal muscular atrophy types 2 and 3 [PDF]

Balneo and PRM Research Journal
Neurofilaments are crucial in neuronal cytoskeleton formation, influencing axonal growth and impulse modulation. This study focuses on understanding the dynamics of the phosphorylated neurofilament heavy subunit (pNFH) in pediatric spinal muscular ...
Mihaela Badina, Corina Sporea, Gabriel Cristian Bejan, Andrada Mirea, Daniela Adriana Ion   +4 more
doaj   +1 more source

Patients’ Perceptions of Nusinersen Effects according to Their Responder Status

Journal of Clinical Medicine
Background and Objective: Patients with spinal muscular atrophy (SMA) treated with a dis-ease-modifying therapy (DMT) are often classified as responders or non-responders based on at-tainment of a specific improvement threshold on validated functional scales. This categorization may significantly impact treatment reimbursement in some countries.
Lilien, C, Vrscaj, E, Thapaliya, G, Deconinck, N, De Waele, L, Duong, T, Haberlová, J, Kumhera, M, Peirens, G, Szabo, L, Tahon, V, Tang, WJ, Benmhammed, N, Médard, L, Servais, L   +14 more
openaire   +4 more sources

Nusinersen for spinal muscular atrophy [PDF]

Therapeutic Advances in Neurological Disorders, 2018
Claudia D. Wurster, Albert C. Ludolph
openaire   +4 more sources