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
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Patient Preference and Adherence, 2021 Yazed AlRuthia,1,2 Ghadah S Almuaythir,1 Hala H Alrasheed,1 Wejdan R Alsharif,1 Mohamad-Hani Temsah,3,4 Fahad Alsohime,3,4 Ibrahim Sales,1 Monira Alwhaibi,1 Fahad A Bashiri3,5 1Department of Clinical Pharmacy, College of Pharmacy, King Saud University ...
AlRuthia Y +8 more
doaj
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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Brain Sciences, 2021 Approval of nusinersen, an intrathecally administered antisense oligonucleotide, for the treatment of 5q-spinal muscular atrophy (SMA) marked the beginning of a new therapeutic era in neurological diseases.
Lars Hendrik Müschen +15 more
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Nusinersen as a Therapeutic Agent for Spinal Muscular Atrophy [PDF]
Yonsei Medical Journal, 2020 The reduction of survival motor neuron (SMN) protein causes spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease. Nusinersen is an antisense oligonucleotide, approved by the FDA, which specifically binds to the repressor within SMN2 exon 7 to enhance exon 7 inclusion and augment production of functional SMN protein. Nusinersen is
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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.
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The Expanding Landscape of Alternative Splicing Variation in Human Populations. [PDF]
, 2018 Alternative splicing is a tightly regulated biological process by which the number of gene products for any given gene can be greatly expanded. Genomic variants in splicing regulatory sequences can disrupt splicing and cause disease.
Lin, Lan +4 more
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Cerebrospinal Fluid and Clinical Profiles in Adult Type 2–3 Spinal Muscular Atrophy Patients Treated with Nusinersen: An 18-Month Single-Centre Experience [PDF]
, 2021 Background and Objectives: Nusinersen was approved as the first disease-modifying therapy in spinal muscular atrophy (SMA). Our aim was to analyse therapy-related changes in cerebrospinal fluid (CSF) and serum parameters of adult type 2–3 SMA and to ...
D'Errico E. +11 more
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Utility of Induced Pluripotent Stem Cells for the Study and Treatment of Genetic Diseases: Focus on Childhood Neurological Disorders [PDF]
, 2016 The study of neurological disorders often presents with significant challenges due to the inaccessibility of human neuronal cells for further investigation.
Barral, S, Kurian, MA
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The effects of nusinersen treatment on respiratory status of children with spinal muscular atrophy [PDF]
, 2022 BACKGROUND: Respiratory involvement is the main factor predicting the prognosis of spinal muscular atrophy (SMA). Significant responses in motor functions have been demonstrated with nusinersen, but pulmonary outcomes are still varied.
Arslan, Hüseyin +9 more
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