Results 61 to 70 of about 6,290 (252)
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
core +1 more source
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
core +1 more source
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 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
openaire +3 more sources
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
doaj +1 more source
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 +2 more
doaj +1 more source
Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification [PDF]
, 2023 Spinal muscular atrophyAtròfia muscular espinalAtrofia muscular espinalWe sought to devise a rational, systematic approach for defining/grouping survival motor neuron-targeted disease-modifying treatment (DMT) scenarios.
De Vivo, Darryl +6 more
core +4 more sources
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 +9 more
doaj +1 more source
Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen [PDF]
, 2022 Aim: To assess the evolution of bulbar function in nusinersen-treated spinal muscular atrophy type 1 (SMA1). Method: This single-centre retrospective study identified 24 patients (14 females and 10 males) with SMA1, treated with nusinersen between 2017 ...
Baranello, Giovanni +8 more
core +1 more source
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 +10 more
doaj +1 more source