Results 51 to 60 of about 19,843 (235)
Orphanet Journal of Rare Diseases, 2021 Background 5q spinal muscular atrophy (SMA) is a disabling and life-limiting neuromuscular disease. In recent years, novel therapies have shown to improve clinical outcomes.
Afshin Saffari +19 more
doaj +1 more source
Neurobiology of Disease, 2021 Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder caused by loss of the Survival Motor Neuron 1 gene (SMN1). Due to this depletion of the survival motor neuron (SMN) protein, the disease is characterized by the degeneration of spinal cord ...
Alba Sansa +4 more
doaj +1 more source
British Journal of Clinical Pharmacology, EarlyView.With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić +4 more
wiley +1 more source
Cell Reports, 2017 Summary: Genetic alterations impacting ubiquitously expressed proteins involved in RNA metabolism often result in neurodegenerative conditions, with increasing evidence suggesting that translation defects can contribute to disease.
Paola Bernabò +14 more
doaj +1 more source
Antisense oligonucleotide mediated therapy of spinal muscular atrophy [PDF]
, 2013 Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality. SMA results from deletions or mutations of survival motor neuron 1 (SMN1), an essential gene.
DiDonato, Christine +4 more
core +3 more sources
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
Genetic and expression studies of gene in Russian patients with spinal muscular atrophy type II and III [PDF]
, 2011 Background: Spinal muscular atrophy (SMA type I, II and III) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene (SMN1). SMN2 is a centromeric copy gene that has been characterized as a major modifier of
Zheleznyakova, Galina Yu, +7 more
core +2 more sources
How the HTAR will contribute to a value‐based decision‐making for medicinal products across the EU
British Journal of Clinical Pharmacology, EarlyView.The European Union Health Technology Regulation 2021/2282 (HTAR) introduces joint assessment of health technologies (including medicinal products and medical devices) across EU Member States. It was signed into law in 2021 and came into full force in January 2025.
Roisin Adams, Michal Stanak
wiley +1 more source
The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia
Frontiers in Genetics, 2021 Background: Rare diseases are an important population health issue and many promising therapies have been developed in recent years. In light of novel genetic treatments expected to significantly improve spinal muscular atrophy (SMA) patients’ quality of
Siiri Sarv +18 more
doaj +1 more source
Sodium vanadate combined with l-ascorbic acid delays disease progression, enhances motor performance, and ameliorates muscle atrophy and weakness in mice with spinal muscular atrophy [PDF]
, 2013 BACKGROUND: Proximal spinal muscular atrophy (SMA), a neurodegenerative disorder that causes infant mortality, has no effective treatment. Sodium vanadate has shown potential for the treatment of SMA; however, vanadate-induced toxicity in vivo remains an
Chen-Hung Ting +6 more
core +1 more source