Results 51 to 60 of about 1,977 (181)

Paradoxical increase of neurofilaments in SMA patients treated with onasemnogene abeparvovec-xioi

Frontiers in Neurology, 2023
Background/ObjectiveNeurofilament light chain (NfL) has been proposed as a biomarker reflecting disease severity and therapy response in children with spinal muscular atrophy type 1 and 2 (SMA1 and 2). The objective of this study was to examine how serum
Marina Flotats-Bastardas, Lisa Bitzan, Charlotte Grell, Kyriakos Martakis, Kyriakos Martakis, Benedikt Winter, Michael Zemlin, Claudia D. Wurster, Zeljko Uzelac, Claudia Weiß, Andreas Hahn   +10 more
doaj   +1 more source

Autism spectrum disorder in children with spinal muscular atrophy type 1: Case series

Developmental Medicine &Child Neurology, EarlyView.
Autism spectrum disorder (ASD) was identified in 37.5% of children with SMA (n = 13). While IQ did not differ significantly between groups, adaptive functioning was reduced in those with co‐occurring ASD. Results support routine early neurodevelopmental screening in children with spinal muscular atrophy.
Lorena V. Rezende, Adriana B. Ortega, Daniel A. Do Valle, Tiago S. Bara, Mara L. Cordeiro   +4 more
wiley   +1 more source

Diverging Safety Signals: A Trend Analysis of Suspected Adverse Drug Reactions Reporting for Spinal Muscular Atrophy Therapies in the European Union

Neurology International
Background/Objectives: The approval of disease-modifying therapies has significantly improved outcomes for patients with spinal muscular atrophy (SMA), yet their long-term safety profiles remain under continuous evaluation.
Andrej Belančić, Petar Mas, Ivana Stević, Dinko Vitezić, Slobodan Janković   +4 more
doaj   +1 more source

2020 Update to Spinal Muscular Atrophy Management in Saudi Arabia

Frontiers in Pediatrics, 2021
Novel therapeutic strategies have shown some promise in treating spinal muscular atrophy (SMA). However, the outcomes and acceptance of these new strategies are yet to be explored.
Fahad A. Bashiri, Fahad A. Bashiri, Mohamad-Hani Temsah, Mohamad-Hani Temsah, Khalid Hundallah, Fahad Alsohime, Fahad Alsohime, Yazed AlRuthia, Yazed AlRuthia   +8 more
doaj   +1 more source

Ethics and equity in access to disease‐modifying therapies and newborn screening for spinal muscular atrophy: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Outcomes of children with cerebral palsy receiving long‐term respiratory support. Aim To review barriers to ethical and equitable access to disease‐modifying therapies (DMTs) and newborn screening (NBS) for spinal muscular atrophy (SMA). Method We searched PubMed, Scopus, Web of Science, EBSCOhost, the Cochrane Library, Google Scholar, and Primo for ...
Serini Murugasen, Mariana Kruger, Marc Blockman, Jo M. Wilmshurst   +3 more
wiley   +1 more source

The Spinal Muscular Atrophy Functional Classification System

Developmental Medicine &Child Neurology, EarlyView.
The Spinal Muscular Atrophy Functional Classification System (SMAFCS) is a new four‐level functional mobility classification for spinal muscular atrophy, derived from Hammersmith Functional Motor Scale Expanded (HFMSE) thresholds and Functional Mobility Scale (FMS) groupings.
Jason J. Howard, H. Kerr Graham, M. Wade Shrader, Mary Schroth, Manish Kumar, Sadettin Ciftci   +5 more
wiley   +1 more source

Aging of Skeletal Muscle: From Molecular Mechanisms to Therapeutic Interventions

MedComm, Volume 7, Issue 10, October 2026.
Skeletal muscle aging is driven by coordinated local breakdown across myofibers, stem and stromal cells, immune and vascular compartments, and neuromuscular control. These mechanisms promote mitochondrial dysfunction, inflammation, senescence, impaired regeneration, fibrosis, myosteatosis, denervation, and functional decline.
Ting Liu, Yaomin Hu
wiley   +1 more source

Estimation of FMO3 Ontogeny by Mechanistic Population Pharmacokinetic Modelling of Risdiplam and Its Impact on Drug-Drug Interactions in Children

, 2023
BACKGROUND AND OBJECTIVE: Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by insufficient levels of survival motor neuron (SMN) protein.
Frey, Nicolas, Cleary, Yumi, Kletzl, Heidemarie, Heinig, Katja, Gertz, Michael, Galetin, Aleksandra, Silber Baumann, Hanna Elisabeth, Aarons, Leon; id_orcid, Grimsey, Paul, Ogungbenro, Kayode; id_orcid   +9 more
core   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1866-1877, September 2026.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Risdiplam retention studies and development of extraction from serum

The primary objective was to investigate the retention of risdiplam under various conditions in reversed-phase ultra-high performance liquid chromatography. Such a study proved to be crucial to better understand the retention mechanism of risdiplam.
Studzińska, Sylwia
core   +1 more source