Results 51 to 60 of about 4,580 (188)
British Journal of Clinical Pharmacology, EarlyView.Introduction In recent years, the treatment of spinal muscular atrophy (SMA), a rare disease, has significantly progressed, improving patients' survival and overall quality of life. However, current SMA treatments are expensive, and some (nusinersen) are very inconvenient for patients.
Andrej Belančić +4 more
wiley +1 more source
Precision medicine in paediatrics: Progress and priorities
British Journal of Clinical Pharmacology, EarlyView.Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain +3 more
wiley +1 more source
Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen
, 2021 Introduction: Nusinersen is associated with an improvement in motor function in children with spinal muscular atrophy (SMA) but data on respiratory muscles strength are scarce.
Barnerias C +11 more
core +2 more sources
PharmaceuticsBackground/Objectives: Spinal muscular atrophy (SMA) is a rare genetic disorder caused by mutations or deletions in SMN1, resulting in the loss of SMN protein and severe neuromuscular consequences.
Maša Sinreih Tisnikar +3 more
doaj +1 more source
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
Decoding RNA regulation: Challenges and opportunities for RNA‐based therapies in Europe
British Journal of Clinical Pharmacology, EarlyView.Abstract RNA‐based medicinal products represent a promising frontier in personalised medicine, offering sequence‐specific disease targeting at various molecular levels, yet their clinical translation in the European Union (EU) may be hindered by regulatory uncertainty around definitions and evidence requirements; this study therefore aims to identify ...
Olivia C. Lewis +4 more
wiley +1 more source
Frontiers in Pediatrics, 2023 ObjectivesTo systematically analyze adverse events (AEs) in treatment of spinal muscular atrophy (SMA) with Nusinersen in children and adolescents.MethodsThe study is registered on PROSPERO (CRD42022345589).
Zhi-Juan Zhong +3 more
doaj +1 more source
Cytoskeleton, EarlyView.ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen +3 more
wiley +1 more source
Improvements in walking distance during nusinersen treatment : a prospective 3-year SMArtCARE registry study [PDF]
, 2023 Background and objectives: Disease progression in patients with spinal muscular atrophy (SMA) has changed dramatically within the past years due to the approval of three different disease-modifying treatments.
Pechmann, Astrid +2 more
core +1 more source
Frontiers in Neurology, 2019 Background: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder characterized by degeneration of spinal motor neurons leading to muscular weakness.
Stefan Gingele +13 more
doaj +1 more source