Results 51 to 60 of about 2,012 (138)

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

Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment [PDF]

, 2022
Background and purpose: Spinal muscular atrophy (SMA) is caused by reduced levels of survival of motor neuron (SMN) protein due to deletions and/or mutations in the SMN1 gene.
Nathalie Goemans, Masson, Riccardo, Heidemarie Kletzl, Martin-Ruiz, Carmen, Goemans, Nathalie, Scalco, Renata S., Martin, Carmen, Janine Hoffart, Odile Boespflug‐Tanguy, Mazzone, Elena S, Astrid Pechmann, Giovanni Baranello, Elena S. Mazzone, Carole Vuillerot, Vuillerot, Carole, Riccardo Masson, Pera, Maria Carmela, Scalco, Renata S, Servais, Laurent, Hoffart, Janine, Renata S. Scalco, Boespflug‐Tanguy, Odile, Gerber, Marianne, Baranello, Giovanni, De Waele, Liesbeth, Mazzone, Elena S., McIver, Tammy, SUNFISH Working Group, Carmen Martin, Silvia Bader‐Weder, Wai Yin Yeung, Marianne Gerber, Bader‐Weder, Silvia, Mercuri, Eugenio, Ksenija Gorni, Tammy McIver, Boespflug-Tanguy, Odile, Maria Carmela Pera, Kletzl, Heidemarie, Janbernd Kirschner, Yeung, Wai Yin, Pechmann, Astrid, Gorni, Ksenija, Laurent Servais, Eugenio Mercuri, Kirschner, Janbernd, Liesbeth De Waele, Bader-Weder, Silvia   +47 more
core   +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

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

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

Addressing Missing Data in Clinical Trials With a Hybrid Control Arm

Statistics in Medicine, Volume 45, Issue 25-27, November 2026.
ABSTRACT Randomized trials have long been the standard for evaluating experimental treatments in medical and pharmacological studies, but the associated time and cost have spurred research into designs that augment randomized studies with data from external sources.
Joshua Wasserman, Herbert Pang, Jiawen Zhu   +2 more
wiley   +1 more source

Rapid Access to Photoswitchable RNA Binders: Fluorination Enhances Protein Rescue by Exon Inclusion

Chemistry – A European Journal, Volume 32, Issue 39, 22 October 2026.
An adaptable approach, many light‐switchable RNA binders. We report a versatile strategy for rapidly synthesizing photoswitchable RNA binders. The ligands can target SMN2 pre‐mRNA, restoring the levels of the corresponding protein by exon‐inclusion rescue.
Lei Zhang, Nemanja Djokovic, Alexander Herr, Anna Wacker, Emily Swanson Hay, Daniel Santana, Amanda E. Hargrove, Harald Schwalbe, Katarina Nikolic, Frank Abendroth, Olalla Vázquez   +10 more
wiley   +1 more source

Data from: Adverse events associated with risdiplam use

<p>Risdiplam is a new drug for treating spinal muscular atrophy (SMA). However, pharmacovigilance analyses are necessary to objectively evaluate its safety—a crucial step in preventing severe adverse events (AEs). Accordingly, the primary objective
Liu, Limei
core   +1 more source

Non-Invasive Spinal Cord Stimulation for Motor Rehabilitation of Patients with Spinal Muscular Atrophy Treated with Orphan Drugs

Biomedicines
Spinal muscular atrophy (SMA) is an orphan disease characterized by the progressive degeneration of spinal alpha motor neurons. In recent years, nusinersen and several other drugs have been approved for the treatment of this disease.
Anton Novikov, Maria Maldova, Natalia Shamantseva, Ivan Shalmiev, Elena Shoshina, Natalia Epoyan, Natalia Krutikova, Tatiana Moshonkina   +7 more
doaj   +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