Results 91 to 100 of about 2,046 (140)

Off-target Effects of Spinal Muscular Atrophy (SMA) Therapeutics [PDF]

, 2022
Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a mutation in or deletion of the Survival Motor Neuron 1 (SMN1) gene that produces SMN, a multifunctional protein.
Gillette, Benjamin
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Type 1 spinal muscular atrophy treated with nusinersen in Norway, a five-year follow-up [PDF]

Background: New treatments for 5q spinal muscular atrophy (SMA) have led to changes in the disease phenotype. Questions about long-term efficacy, however, persist.
Hagen, Milada, Holtebekk, Elisabeth, Ramm-Pettersen, Anette, Rasmussen, Magnhild, Wallace, Sean Ciaran, Wik-Klokk, Merete, Zetterberg, Henrik, Ørstavik, Kristin   +7 more
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Exploring sleep quality, depressive symptoms, and quality of life in adults with spinal muscular atrophy [PDF]

Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder caused by the mutation of the survival motor neuron 1 (SMN1) gene. Sleep disturbances and their impact on mental health and quality of life in patients with SMA are being understudied, and
Baldini V., Liguori R., Plazzi G., Redolfi S., Varallo G.   +4 more
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Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom [PDF]

Background: Real-world data on the efficacy and safety of onasemnogene abeparvovec (OA) in spinal muscular atrophy (SMA) are needed, especially to overcome uncertainties around its use in older and heavier children.
Abbott, L, Atherton, M, Baranello, G, D'Urso, S, Dhawan, A, Douglas, I, Eyre, M, Fernandez-Garcia, MA, Gowda, V, Horrocks, I, Hughes, I, Illingworth, M, Jungbluth, H, Main, M, Majumdar, A, Manzur, A, Marco, SS, McCullagh, G, Milton, E, Munot, P, Muntoni, F, Murugan, A, Ong, M, Pinches, L, Reading, E, Scoto, M, Servais, L, Sheehan, J, Smith, H, Standing, E, Tirupathi, S, Vanegas, M, Vijayakumar, K, Warner, S, Willis, T, Wolfe, A, Wraige, E   +36 more
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In utero therapy for spinal muscular atrophy: closer to clinical translation [PDF]

In-utero therapy; Fetus; Gene therapyTeràpia intrauterina; Fetus; Teràpia gènicaTerapia intrauterina; Feto; Terapia génica5q-Spinal muscular atrophy (SMA) has been a trailblazer in the development of advanced therapies for inherited diseases.
Chilcott, Ellie, Finkel, Richard, Lindner, Georg, TIZZANO, EDUARDO F., Yáñez-Muñoz, Rafael J   +4 more
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Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy

Frontiers in Neurology
Spinal muscular atrophy (SMA) is an uncommon disorder associated with genes characterized by the gradual weakening and deterioration of muscles, often leading to substantial disability and premature mortality.
Pankaj Bagga, Sudhakar Singh, Gobind Ram, Subham Kapil, Avtar Singh   +4 more
doaj   +1 more source

Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence

Drug Design, Development and Therapy, 2022
Helgi Thor Hjartarson,1 Kristofer Nathorst-Böös,1 Thomas Sejersen1,2 1Department of Neuropediatrics, Astrid Lindgren Children´s Hospital, Karolinska University Hospital, Stockholm, Sweden; 2Department of Women’s and Children’s Health, Karolinska ...
Hjartarson HT, Nathorst-Böös K, Sejersen T   +2 more
doaj  

100 Adults with Spinal Muscular Atrophy at the Dawn of Treatment: A Bone Health Focus [PDF]

Introduction As disease-modifying treatments for spinal muscular atrophy (SMA) are implemented, co-morbidities in adults including osteo-pathologies are increasingly recognised. Guidance for managing such issues is incomplete.
Benoy, Mary, Desikan, Mahalekshmi, Dungavel, Alexandra, Johnson, Rebecca, Kumar, Apoorva, Parton, Matthew, Quinlivan, Rosaline   +6 more
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Fiberoptic endoscopic evaluation of swallowing (FEES) in children with spinal muscular atrophy type 1: feasibility, swallowing safety and efficacy, and dysphagia phenotype [PDF]

Purpose: Although dysphagia is a common symptom among patients with Spinal Muscular Atrophy Type 1 (SMA1), scant data exist on the application of Fiberoptic Endoscopic Evaluation of Swallowing (FEES) in this population.
Campari A., Dosi C., Gandolfi S., Gitto M., Mandelli A., Masson R., Mozzanica F., Pizzorni N., Schindler A.   +8 more
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2024 update: European consensus statement on gene therapy for spinal muscular atrophy. [PDF]

Spinal muscular atrophy (SMA) is one of the most common genetic diseases and was, until recently, a leading genetic cause of infant mortality. Three disease-modifying treatments have dramatically changed the disease trajectories and outcome for severely ...
Bernert, Günther, Butoianu, Nina, De Waele, Liesbeth, Fattal-Valevski, Aviva, Haberlova, Jana, Kirschner, Janbernd, Klein, Andrea, Kostera-Pruszczyk, Anna, Mercuri, Eugenio, Moreno, Teresa, Muntoni, Francesco, Pol, Ludo van der, Quijano‐Roy, Susana, Sejersen, Thomas, Servais, Laurent, Tizzano, Eduardo F., Wallace, Sean, Zafeiriou, Dimitrios, Ziegler, Andreas, Ziegler, Andreas   +19 more
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