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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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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
doaj +1 more source
Antisense oligonucleotides and other genetic therapies made simple [PDF]
, 2018 Many genetic neurological diseases result from the dysfunction of single proteins. Genetic therapies aim to modify these disease-associated proteins by targeting the RNA and DNA precursors.
Reilly, M, Rossor, A, Sleigh, JN
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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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Nusinersen in spinal muscular atrophy: Respiratory outcomes at tertiary care centers
Journal of Nature and Science of Medicine, 2020 Objectives: The objective of the study wasto describe the effect of nusinersen therapy and its 1st-year associated outcomes, weaning of ventilator support, and length of stay in pediatric intensive care among ventilator-dependent spinal muscular atrophy (
Fahad Alsohime +12 more
doaj +1 more source
Molecular Therapy: Methods & Clinical Development, 2021 This longitudinal cohort study aimed to determine whether circulating neurofilaments (NFs) can monitor response to molecular therapies in newborns with spinal muscular atrophy (SMA; NCT02831296).
Christiano R.R. Alves +13 more
doaj +1 more source
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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Comparison of Nusinersen and Evrysdi in the Treatment of Spinal Muscular Atrophy [PDF]
E3S Web of Conferences, 2021 Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease that commonly affects children, and usually worsens with age that often leads to permanent disability and death for many of the SMA patients.
Zhu Xiaoying
doaj +1 more source
Newborn genetic screening for spinal muscular atrophy in the UK : the views of the general population [PDF]
, 2018 Background: Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no routinescreening programme for SMA in the UK.
Ar Rochmah +46 more
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Newborn screening for spinal muscular atrophy : the views of affected families and adults [PDF]
, 2017 Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant death worldwide. However, due to a lack of treatments, SMA has historically fallen short of Wilson-Jungner criteria.
Boardman, Felicity K. +2 more
core +1 more source