Results 71 to 80 of about 6,290 (252)
A Novel Adverse Event of Nusinersen Treatment: Thrombocytosis [PDF]
The Indian Journal of Pediatrics, 2019 [No abstract available]
Nagehan Aslan +5 more
openaire +3 more sources
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 +11 more
core
Nusinersen in SMA 2 and 3 [PDF]
Neurology, 2020 Nusinersen is an antisense oligonucleotide which promotes the expression of full-length SMN protein by modifying the splicing of SMN2 pre-messenger RNA. Nusinersen was approved by FDA in 2016 to be used in all forms of SMA, based on a clinical trial in SMA 1.1 Two years later, a clinical trial in later-onset SMA was published.2 Ability to walk ...
openaire +4 more sources
British Journal of Clinical Pharmacology, EarlyView.With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić +4 more
wiley +1 more source
Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland [PDF]
, 2022 Spinal muscular atrophy (SMA) is an autosomal recessive disorder causing progressive proximal muscular, respiratory, and bulbar weakness. We present outcome data on motor function, ventilation, nutrition, and language development of SMA patients treated ...
Baumann, Dominique +11 more
core +1 more source
New insights into applications of base editor in hereditary disorders
Interdisciplinary Medicine, EarlyView.Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai +8 more
wiley +1 more source
Fatigue in adults with spinal muscular atrophy under treatment with nusinersen [PDF]
Scientific Reports, 2020 Abstract5q-Associated spinal muscular atrophy is a hereditary neuromuscular disease leading to progressive muscle weakness in which fatigue occurs and affects quality of life. Treatment with the antisense oligonucleotide nusinersen has been shown to improve motor function. Fatigue can be measured within the Fatigue Severity Scale (FSS).
Kizina, K. +8 more
openaire +4 more sources
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims 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. This study aimed to investigate changes in axonal excitability and motor unit number estimation (MUNE) parameters following a
Abir Alaamel +4 more
wiley +1 more source
The efficacy and safety of nusinersen within the expanded access program in Russia
Нервно-мышечные болезни, 2020 Introduction. Spinal muscular atrophy is a severe neuromuscular disease characterized by rapid progression of muscle weakness and early death. Pathogenetic therapy with nusinersen can significantly change the course of the disease and enable the patient ...
S. B. Artemieva +12 more
doaj +1 more source
Response of plasma microRNAs to nusinersen treatment in patients with SMA
Annals of Clinical and Translational Neurology, 2022 Objective Spinal muscular atrophy (SMA) is a common genetic cause of infant mortality. Nusinersen treatment ameliorates the clinical outcome of SMA, however, some patients respond well, while others have limited response.
Irina T. Zaharieva +7 more
doaj +1 more source