Results 71 to 80 of about 6,101 (249)

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  

Nusinersen: A Review in 5q Spinal Muscular Atrophy [PDF]

CNS Drugs, 2018
Survival motor neuron 1 (SMN1), located on chromosome 5q, encodes the survival motor neuron (SMN) protein. A deletion or mutation in SMN1 results in a rare neuromuscular disorder: 5q spinal muscular atrophy (SMA). In such patients, SMN protein production relies solely on SMN2.
openaire   +4 more sources

Nusinersen Wearing-Off in Adult 5q-Spinal Muscular Atrophy Patients

Brain Sciences, 2021
The antisense oligonucleotide nusinersen was the first drug treatment available for all types of 5q-spinal muscular atrophy (SMA). The dosing regime has been derived from pivotal clinical trials in infants and children.
Alma Osmanovic, Olivia Schreiber-Katz, Susanne Petri   +2 more
doaj   +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., Stolte, B., Totzeck, A., Bolz, S., Schlag, M., Ose, C., von Velsen, O., Kleinschnitz, Christoph, Hagenacker, Tim   +8 more
openaire   +4 more sources

Cost-effectiveness analysis of using onasemnogene abeparvocec (AVXS-101) in spinal muscular atrophy type 1 patients

Journal of Market Access & Health Policy, 2019
Background: Spinal muscular atrophy type 1 (SMA1) is a devastating genetic disease for which gene-replacement therapy may bring substantial survival and quality of life benefits.
Daniel C. Malone, Rebecca Dean, Ramesh Arjunji, Ivar Jensen, Phil Cyr, Beckley Miller, Benit Maru, Douglas M. Sproule, Douglas E. Feltner, Omar Dabbous   +9 more
doaj   +1 more source

Unilateral interlaminar fenestration on the convex side provides a reliable access for intrathecal administration of nusinersen in spinal muscular atrophy: a retrospective study

Orphanet Journal of Rare Diseases, 2023
Background As the first gene therapy for spinal muscular atrophy (SMA), nusinersen is supposed to be administrated via intrathecal injection regularly for a lifetime.
Zhen Wang, Erwei Feng, Yang Jiao, Junduo Zhao, Xin Chen, Haozhi Zhang, Jinqian Liang, Zheng Li, Xulei Cui, Weiyun Chen, Jianxiong Shen   +10 more
doaj   +1 more source

Neurochemical markers in CSF of adolescent and adult SMA patients undergoing nusinersen treatment [PDF]

, 2022
Background: There is limited information on neurochemical markers being used to support and monitor the affection of motoneurons in patients with spinal muscular atrophy (SMA).
Dreyhaupt, Jens, Günther, René, Hermann, Andreas, Kocak, Tugrul, Koch, Jan C., Lingor, Paul, Ludolph, Albert C., Otto, Markus, Petri, Susanne, Steinacker, Petra, Uzelac, Zeljko, Winter, Benedikt, Witzel, Simon, Wollinsky, Kurt, Wurster, Claudia D.   +14 more
core   +2 more sources

A Novel Adverse Event of Nusinersen Treatment: Thrombocytosis [PDF]

The Indian Journal of Pediatrics, 2019
[No abstract available]
Nagehan Aslan, Dincer Yildizdas, Yasemin Coban, Ozden Ozgur Horoz, Gulen Gul Mert, Neslihan Ozcan   +5 more
openaire   +3 more sources

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

Alternative Splicing Regulation in Metabolic Disorders

Obesity Reviews, EarlyView.
ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley   +1 more source