Results 31 to 40 of about 7,657 (243)
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
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BMC Neurology, 2023 Background Spinal muscular atrophy (SMA) is a progressive degenerative neuromuscular disease. Nusinersen, with its quick onset of action, can benefit patients early in the treatment course.
Hua Yang +7 more
doaj +1 more source
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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Clinical impact of splicing in neurodevelopmental disorders. [PDF]
, 2020 Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting variants are known to contribute to these disorders, clinical interpretation of cryptic splice ...
Farh, Kyle Kai-How +2 more
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Annals of Indian Academy of Neurology, 2020 Background: Nusinersen has recently been approved and more widely used as first-line treatment of spinal muscular atrophy (SMA). This study aimed to evaluate the real-world experience of nusinersen use for patients with a broad spectrum of SMA.
Ae Ryoung Kim +7 more
doaj +1 more source
Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model [PDF]
, 2022 Background: Nusinersen is approved for the treatment of spinal muscular atrophy. The most common approved dosing regimen is four intrathecal loading doses of nusinersen 12 mg; the first three are administered at 14-day intervals followed by a fourth dose
Berger, Zdenek +9 more
core +1 more source
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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Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients
Communications Medicine, 2023 Nuzzo, Russo, Errico, D’Amico et al. investigate neuroinflammation in forty-eight pediatric spinal muscular atrophy patients before and after Nusinersen treatment.
Tommaso Nuzzo +13 more
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Brain Sciences, 2021 The antisense oligonucleotide nusinersen has been shown to improve trunk and limb motor function in patients with spinal muscular atrophy (SMA). Bulbar dysfunction, which is regularly present in SMA, is not captured by standard motor scores, and ...
Svenja Brakemeier +7 more
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Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy [PDF]
, 2017 Dominant-negative mutations in the genes that encode the three major a chains of collagen type VI, COL6A1, COL6A2, and COL6A3, account for more than 50% of Ullrich congenital muscular dystrophy patients and nearly all Bethlem myopathy patients ...
Ala, P, Marrosu, E, Muntoni, F, Zhou, H
core +2 more sources