Results 21 to 30 of about 6,859 (228)
History of development of the life-saving drug “Nusinersen” in spinal muscular atrophy
Frontiers in Cellular Neuroscience, 2022 Spinal muscular atrophy (SMA) is an autosomal recessive disorder with an incidence of 1/6,000–1/10,000 and is the leading fatal disease among infants. Previously, there was no effective treatment for SMA.
Jiaying Qiu +8 more
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Children, 2021 Although nusinersen has been demonstrated to improve motor function in patients with spinal muscular atrophy (SMA), no studies have investigated its effect on fine manual dexterity.
Minsu Gu, Hyun-Ho Kong
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Nusinersen Administration in Spinal Muscular Atrophy Patients with Severe Scoliosis: Interlaminar Approaches at the Lumbar Level [PDF]
Annals of Child Neurology, 2020 Purpose Spinal muscular atrophy (SMA) is a genetic progressive neuromuscular disorder, and nusinersen has shown to improve its symptoms. Scoliosis is a frequent symptom in patients with SMA and complicates the intrathecal injection of nusinersen. The aim
Joo Young Song +4 more
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Journal of Market Access & Health Policy, 2021 Background: Recent cost-utility analysis (CUA) models for onasemnogene abeparvovec (Zolgensma®, formerly AVXS-101) in spinal muscular atrophy type 1 (SMA1) differ on key assumptions and results.
Rebecca Dean +11 more
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Frontiers in Neurology, 2022 BackgroundSpinal muscular atrophy (SMA) is an autosomal recessive disorder caused by pathogenic variation of the survival motor neuron (SMN) 1 gene. Symptoms of SMA include progressive limb muscle weakness, atrophy, and severe scoliosis. Nusinersen is an
Beiyu Xu +8 more
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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
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Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening [PDF]
, 2018 Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy.
Connolly, Anne +14 more
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Motor Neuron Gene Therapy: Lessons from Spinal Muscular Atrophy for Amyotrophic Lateral Sclerosis [PDF]
, 2017 Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are severe nervous system diseases characterized by the degeneration of lower motor neurons.
Sleigh, JN, Tosolini, AP
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BMJ Paediatrics Open, 2019 Background Nusinersen has been used to treat spinal muscular atrophy type 1 (SMA1) in the UK since 2017. While initial trials showed neuromuscular benefit from treating SMA1, there is little information on the respiratory effects of nusinersen.
Francis J Gilchrist +7 more
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Gene suppression approaches to neurodegeneration [PDF]
, 2017 Gene suppression approaches have emerged over the last 20 years as a novel therapeutic approach for the treatment of neurodegenerative diseases. These include RNA interference and anti-sense oligonucleotides, both of which act at the post-transcriptional
Ghosh, R, Tabrizi, SJ
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