Results 1 to 10 of about 6,859 (228)
Some of the next articles are maybe not open access.
Nusinersen Induces Disease-Severity-Specific Neurometabolic Effects in Spinal Muscular Atrophy [PDF]
Biomolecules, 2022 Intrathecal delivery of Nusinersen–an antisense oligonucleotide that promotes survival motor neuron (SMN) protein induction–is an approved therapy for spinal muscular atrophy (SMA).
Francesco Errico +15 more
doaj +6 more sources
Experiences from treating seven adult 5q spinal muscular atrophy patients with Nusinersen [PDF]
Therapeutic Advances in Neurological Disorders, 2020 Background: The antisense oligonucleotide Nusinersen recently became the first approved drug against spinal muscular atrophy (SMA). It was approved for all ages, albeit the clinical trials were conducted exclusively on children.
Elisabeth Jochmann +11 more
doaj +2 more sources
Preliminary insights into RNA in CSF of pediatric SMA patients after 6 months of nusinersen [PDF]
Biology Direct, 2023 Background Spinal muscular atrophy (SMA) is a rare autosomal-recessive neurodegenerative disorder caused by mutations in survival motor neuron 1 (SMN1) gene, and consequent loss of function of SMN protein, which results in progressive loss of lower motor
M. Garofalo +16 more
doaj +2 more sources
Treatment with nusinersen in a girl with spinal muscular atrophy type 1 - Case report
Zdravniški Vestnik, 2020 We report the case of a girl with spinal muscular atrophy (SMA) type 1, who is the first patient with SMA in Slovenia treated with nusinersen, the first disease modifying therapy available for these patients.
Tanja Loboda +3 more
doaj +3 more sources
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 ...
Harriet Weststrate +9 more
openalex +3 more sources
Ultrasound-guided nusinersen administration for spinal muscular atrophy patients with severe scoliosis: an observational study [PDF]
Orphanet Journal of Rare Diseases, 2021 Background This observational study describes our experience delivering nusinersen through lumbar puncture with real-time ultrasound guidance in spinal muscular atrophy (SMA) patients with severe scoliosis.
Jiao Zhang +5 more
doaj +2 more sources
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 +2 more sources
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 +2 more sources