Results 41 to 50 of about 1,989 (180)
Cells, 2022 Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder and one of the most common genetic causes of infant death. It is characterized by progressive weakness of the muscles, loss of ambulation, and death from respiratory ...
Tejal Aslesh, Toshifumi Yokota
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Spinal muscular atrophy - onasemnogene abeparvovec and other therapeutic options [PDF]
Farmacja Polska, 2020 Spinal muscular atrophy (SMA) is a neuromuscular disorder that results in the loss of motor neurons. SMA is caused by mutations in the SMN1 gene, leading to the decreased synthesis of the SMN protein, necessary for motor neuron survival. In the past, SMA
Aleksandra Alicja Majchrzak-Celińska +2 more
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Advances and limitations for the treatment of spinal muscular atrophy
BMC Pediatrics, 2022 Spinal muscular atrophy (5q-SMA; SMA), a genetic neuromuscular condition affecting spinal motor neurons, is caused by defects in both copies of the SMN1 gene that produces survival motor neuron (SMN) protein.
John W. Day +6 more
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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
, 2023 L’Amyotrophie Musculaire Spinale (SMA) est une pathologie neuromusculaire rare d’origine génétique caractérisée par une hypotonie, une atrophie et une faiblesse musculaire progressive.
Blaisot, Élody
core
Biology, 2023 Spinal Muscular Atrophy (SMA) is the leading genetic cause of infant mortality. The most common form of SMA is caused by mutations in the SMN1 gene, located on 5q (SMA).
Julieth Andrea Sierra-Delgado +8 more
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Neuromuscular Diseases, 2022 Objective: to analyze the safety and evaluate the effectiveness of therapy with onasemnogene abeparvovec in patients with spinal muscular atrophy in real clinical practice based on the experience of using the drug in the neuromuscular center of Research Clinical Pediatric Institute of Pirogov Russian National Research Medical University.Materials and ...
S. B. Artemyeva +4 more
openaire +3 more sources
British Journal of Clinical Pharmacology, EarlyView.Small and mid‐sized pharmaceutical innovators often have limited in‐house health economics and market access expertise, and may struggle to align development strategies of investigational medicinal products with health system needs and payer expectations.
Zoltán Kaló +5 more
wiley +1 more source
Fortalecimento de capacidades estatais: estudo de caso sobre a atuação dos NATJUS na incorporação do Zolgensma para o tratamento da Atrofia Muscular Espinhal Tipo 1 [PDF]
, 2023 Por meio deste estudo de caso da atuação dos Núcleos de Apoio Técnico ao Poder Judiciário – NATJUS, vinculados aos Tribunais de Justiça de São Paulo e do Distrito Federal e Territórios, lança-se luz às potencialidades advindas da aplicação dos marcos ...
Dias Júnior, Osmar Sebastião
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, 2022 Goed nieuws voor patiënten met de zeldzame erfelijke spierziekte spinale musculaire atrofie (SMA) en de zeldzame erfelijke stofwisselingsziekte metachromatische leukodystrofie (MLD).
Thielen, Frederick W.; id_orcid +4 more
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