Results 91 to 100 of about 4,206 (188)

Real-world analysis of the efficacy and safety of nusinersen in pediatric patients with spinal muscular atrophy

Orphanet Journal of Rare Diseases
Background Spinal muscular atrophy (SMA) is a rare neurodegenerative disease that significantly affects multiple systems in children. Nusinersen, the first approved treatment for SMA, enhances SMN protein production by targeting the RNA splicing site of ...
Wenjing Li, Qin Zhang, Hongjun Miao, Jin Xu   +3 more
doaj   +1 more source

Current evidence for treatment with nusinersen for spinal muscular atrophy : a systematic review [PDF]

, 2019
Recent discovery of nusinersen, an antisense oligonucleotide drug, has provided encouragement for improving treatment of spinal muscular atrophy. No therapeutic options currently exist for this autosomal recessive motor neuron disorder.
Meylemans, Antoon, De Bleecker, Jan
core   +1 more source

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

Nusinersen chez l’enfant : évolution ou révolution ?

, 2019
Le nusinersen ou Spinraza® est utilisé en France dans l’amyotrophie spinale infantile chez l’enfant depuis un peu plus d’un an seulement. Des données personnelles, évidemment très préliminaires, apporte de premiers arguments sur son intérêt dans la prise
Christian Richelme
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

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

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

Spinal muscular atrophy and acute lymphoblastic leukemia - is it just a coincidence? [PDF]

Srpski Arhiv za Celokupno Lekarstvo
Introduction. Spinal muscular atrophy (SMA) and acute lymphoblastic leukemia (ALL) are rare diseases, with usual onset in childhood. To date, no cases have been reported where these conditions co-exist in one patient.
Jovanović Kristina, Dimić Jovana, Brkušanin Miloš, Nikolić Dejan, Škorić Dejan   +4 more
doaj   +1 more source

Managing intrathecal administration of nusinersen in adolescents and adults with 5q-spinal muscular atrophy and previous spinal surgery [PDF]

Arquivos de Neuro-Psiquiatria
Background: Spinal muscular atrophy (SMA) is a neurodegenerative disease of lower motor neurons associated with frequent occurrence of spinal deformity.
Rodrigo de Holanda Mendonça, Hermann dos Santos Fernandes, Rafael Barbéro Schimmelpfeng Pinto, Ciro Matsui Júnior, Graziela Jorge Polido, André Macedo Serafim da Silva, Luis Fernando Grossklauss, Umbertina Conti Reed, Edmar Zanoteli   +8 more
doaj   +2 more sources