Results 101 to 110 of about 2,038 (184)

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
core   +1 more source

Patient-specific responses to SMN2 splice-modifying treatments in spinal muscular atrophy fibroblasts

Molecular Therapy: Methods & Clinical Development
The availability of three therapies for the neuromuscular disease spinal muscular atrophy (SMA) highlights the need to match patients to the optimal treatment.
Ilaria Signoria, Maria M. Zwartkruis, Lotte Geerlofs, Elena Perenthaler, Kiterie M.E. Faller, Rachel James, Harriet McHale-Owen, Jared W. Green, Joris Kortooms, Sophie H. Snellen, Fay-Lynn Asselman, Thomas H. Gillingwater, Gabriella Viero, Renske I. Wadman, W. Ludo van der Pol, Ewout J.N. Groen   +15 more
doaj   +1 more source

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
core   +3 more sources

Short Review on Currently Used Sample Preparation and Determination Methods of Risdiplam

Journal of Separation Science
ABSTRACTRisdiplam is a new therapeutic agent developed to treat spinal muscular atrophy (SMA), a genetic neurodegenerative disease caused by mutations in the SMN1 gene. Unlike previous invasive therapies, risdiplam offers the advantage of oral administration, significantly improving patient comfort and accessibility.
Balińska, Natalia, Ostrowska, Karolina, Studzińska, Sylwia   +2 more
openaire   +3 more sources

Recent Advance in Disease Modifying Therapies for Spinal Muscular Atrophy

Acta Neurologica Taiwanica
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease characterized by progressive weakness and atrophy of skeletal muscles. With homozygous survival motor neuron 1 (SMN1) gene mutation, all SMA patients have at least one copy of ...
Li-Kai Tsai, Chen-Hung Ting, Yo-Tsen Liu, Cheng-Tsung Hsiao, Wen-Chin Weng, Society for Neurological Rare Disorders-Taiwan   +5 more
doaj   +1 more source

Risdiplam

American Journal of Health-System Pharmacy, 2020
openaire   +2 more sources

Male Reproduction in Spinal Muscular Atrophy (SMA) and the Potential Impact of Oral Survival of Motor Neuron 2 (SMN2) Pre-mRNA Splicing Modifiers

Neurology and Therapy
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletions or mutations in the survival of motor neuron 1 (SMN1) gene resulting in reduced levels of SMN protein.
Natan Bar-Chama, Bakri Elsheikh, Channa Hewamadduma, Carol Jean Guittari, Ksenija Gorni, Lutz Mueller   +5 more
doaj   +1 more source

Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy

International Journal of Neonatal Screening
Spinal muscular atrophy (SMA) causes the degeneration of motor neurons in the spinal cord. Treatments including nusinersen, risdiplam, and onasemnogene abeparvovec have been shown to be effective in reducing symptoms, with recent studies suggesting ...
Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, Jim Chilcott, Alisdair McNeill, Alice Bessey   +7 more
doaj   +1 more source

Spinal muscular atrophy:From approved therapies to future therapeutic targets for personalized medicine [PDF]

, 2021
Chaytow, Helena, Faller, Kiterie, Gillingwater, Thomas H, Huang, Yu-ting   +3 more
core   +1 more source

Autophagy in spinal muscular atrophy: from pathogenic mechanisms to therapeutic approaches [PDF]

© 2024 Rashid and Dimitriadi. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). https://creativecommons.org/licenses/by/4.0/Spinal muscular atrophy (SMA) is a devastating neuromuscular ...
Dimitriadi, Maria, Rashid, Saman
core   +2 more sources