Results 31 to 40 of about 2,046 (140)
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey [PDF]
, 2023 ObjectiveSpinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy.MethodsAn online survey was distributed to 36 ...
Boccia, Stefania +6 more
core +6 more sources
Brain Sciences, 2023 Objective: We performed a systematic review and meta-analysis of the efficacy and safety of nusinersen and risdiplam in the treatment of spinal muscular disease (SMA).
Yue Qiao, Yuewei Chi, Jian Gu, Ying Ma
doaj +1 more source
INNOVATIVE THERAPIES IN GENETIC DISEASES: SPINAL MUSCULAR ATROPHY [PDF]
Romanian Journal of Pediatrics, 2021 Spinal muscular atrophy is a congenital neuromuscular disease characterized by the deterioration of the motor neurons located mainly in the anterior horns of the spinal cord, leading to progressive muscle weakness and atrophy.
Elena-Silvia Shelby, Andrada Mirea
doaj +1 more source
Brain Sciences, 2023 Spinal muscular atrophy (SMA) is a rare neuromuscular disease, with an estimated incidence of about 1 in 10,000 live births. To date, three orphan drugs have been approved for the treatment of SMA: nusinersen, onasemnogene abeparvovec, and risdiplam. The
Salvatore Crisafulli +4 more
doaj +1 more source
Risdiplam for the Use of Spinal Muscular Atrophy [PDF]
, 2021 Spinal muscular atrophy (SMA) is one of the leading causes of death in infants related to the degeneration of neurons. Currently, there are no curative treatment options for SMA, and many options available may not be feasible.
Babin, Katherine C. +7 more
core +1 more source
Frontiers in Neurology, 2022 Spinal muscular atrophy (SMA) is a rare genetic disease that results in progressive neuromuscular weakness. Without therapy, the most common form of the disease, type 1, typically results in death or chronic respiratory failure in the first 2 years of ...
Carmen Leon-Astudillo +2 more
doaj +1 more source
Process for the preparation of Risdiplam and its intermediates [PDF]
, 2022 The present application relates to a process for the preparation of 7-(4,7-diazaspiro[2.5]octan-7-yl)-2-(2,8-dimethylimidazo[1,2-b]pyridazin-6-yl)pyrido-4H-[1,2-a]pyrimidin-4-one of formula-1 and its intermediate compounds.
, Srinivasan Thirumalai Rajan
core +1 more source
Bridging the Gap : Gene Therapy in a Spinal Muscular Atrophy Type 1 Patient [PDF]
, 2022 Molecular therapies exploit understanding of pathogenic mechanisms to reconstitute impaired gene function or manipulate flawed RNA expression. These therapies include 1) RNA interference by antisense oligonucleotides, 2) mRNA modification using small ...
Corti, Stefania +3 more
core +1 more source
Process for the preparation of amorphous form of Risdiplam [PDF]
, 2023 The present application relates to a process for the preparation of an amorphous of 7-(4,7-diazaspiro[2.5]octan-7-yl)-2-(2,8-dimethylimidazo[1,2-b]pyridazin-6-yl)pyrido-4H-[1,2-a]pyrimidin-4-one formula-1.
, Srinivasan Thirumalai Rajan
core +1 more source
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study [PDF]
, 2022 Background: ANCHOVY was a global, multicenter, chart-review study that aimed to describe the natural history of Type 1 spinal muscular atrophy (SMA) from a broad geographical area and provide further contextualization of results from the FIREFISH ...
Cances, Claude +13 more
core +1 more source