Results 101 to 110 of about 7,657 (243)

Evaluating the Effects of Nusinersen Treatment in Adults With Spinal Muscular Atrophy Using Axonal Excitability and MscanFit MUNE. [PDF]

Muscle Nerve
The biological changes in motor neurons and motor axons that correlate with the clinical benefits of nusinersen, an antisense oligonucleotide, in spinal muscular atrophy (SMA) remain poorly understood.
Alaamel A, Erdem NŞ, Gencer GYG, Kaya HC, Uysal H.   +4 more
europepmc   +2 more sources

Systematic Druggable Genome‐Wide Analysis Identifies Therapeutic Targets for Aging: A Mendelian Randomization Study

Health Science Reports, Volume 9, Issue 4, April 2026.
ABSTRACT Background and Aims Currently, there are no effective drug treatments for aging. Mendelian randomization (MR) has been widely applied to repurpose existing drugs and identify new therapeutic targets. Our aim is to identify aging‐related therapeutic targets and evaluate their potential adverse effects, underlying mechanisms, and actionable ...
Yanfang Zhang, Menglong Wang, Hang Li, Ting Jin, Shanshan Peng, Yi Dong, Chaowei Deng, Hang Li, Xinyi Li, Juanjuan Qin, Xujun Ye   +10 more
wiley   +1 more source

Long-term CSF responses in adult patients with spinal muscular atrophy type 2 or 3 on treatment with nusinersen

Journal of Neurology
5q-associated spinal muscular atrophy (SMA) is a monogenic disease causing progressive alpha motor neuron degeneration, muscle atrophy, and weakness. Intrathecal therapy with the antisense oligonucleotide nusinersen modifies the disease course.
G. Cebulla, Ling Hai, U. Warnken, C. Güngör, D. Hoffmann, M. Korporal-Kuhnke, Brigitte Wildemann, Wolfgang Wick, Tobias Kessler, M. Weiler   +9 more
semanticscholar   +1 more source

Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen [PDF]

, 2021
Nusinersen is an antisense oligonucleotide approved for the treatment of spinal muscular atrophy. The drug is given intrathecally at 12 mg, beginning with 3 loading doses at 2-week intervals, a fourth loading dose 30 days thereafter, and maintenance ...
Berger, Z, East, L, Farrar, MA, Farwell, W, Finkel, RS, Kirschner, J, MacCannell, D, Mercuri, E, Muntoni, F, Nestorov, I, Peng, J, Zhou, J   +11 more
core  

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

Efficacy of Nusinersen Treatment in Type 1, 2, and 3 Spinal Muscular Atrophy: Real-World Data from a Single-Center Study

Neurology International
Background: Spinal muscular atrophy (SMA) is an inherited neuromuscular disease characterized by progressive muscle weakness and atrophy due to the absence of the survival motor neuron 1 (SMN1) gene.
Anna Lemska, Piotr Ruminski, Jakub Szymarek, Sylwia Studzinska, Maria Mazurkiewicz-Beldzinska   +4 more
doaj   +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

Nusinersen therapy changed the natural course of spinal muscular atrophy type 1: What about spine and hip?

Journal of Children's Orthopaedics
Purpose: Spinal muscular atrophy type 1 has a devastating natural course and presents a severe course marked by scoliosis and hip subluxation in nonambulatory patients.
Niyazi Erdem Yasar, Guzelali Ozdemir, Elif Uzun Ata, Mustafa Okan Ayvali, Naim Ata, Mahir Ulgu, Ebru Dumlupınar, Suayip Birinci, Izzet Bingol, Senol Bekmez   +9 more
doaj   +1 more source

Total Intramuscular Fat Fraction of Thigh Muscles as a Predictor of Nusinersen Efficacy in Pediatric SMA Type II and III

Diagnostics
Background/Objectives: Nusinersen is a disease-modifying drug for spinal muscular atrophy (SMA) that improves motor function. However, its effects on the skeletal muscles remain unclear.
Kiiko Iketani, Hiroyuki Awano, Hiromi Hashimura, S. Sonehara, Hiroaki Hanafusa, Y. Nambu, Hisahide Nishio, K. Nozu, Ryosuke Bo   +8 more
semanticscholar   +1 more source

Effect of nusinersen on pulmonary function in children with spinal muscular atrophy in the plateau region: A pilot study

Heliyon
Background: The drug nusinersen is applied to improve motor function in patients with spinal muscle atrophy (SMA). However, research on the effects of this treatment on lung function is lacking.
Jicai Zhu, Xiaofang Chen, Haoke Sang, Minming Ma, Chunhui Tang   +4 more
doaj   +1 more source