Results 81 to 90 of about 2,038 (184)

Counting the Cost: The Hidden Financial Realities of Neuromuscular Disease Through Patient and Family Perspectives

Health Expectations, Volume 28, Issue 6, December 2025.
ABSTRACT Introduction Neuromuscular diseases (NMDs) impose multifaceted challenges on individuals and their families, often resulting in significant medical and non‐medical expenses. While cost‐of‐illness (COI) studies provide valuable quantitative data, few explore the lived experience of financial strain.
Homira Osman, Zainab Adamji, Stacey Lintern, Ian C. Smith, Alyssa Grant, Lola E.R. Lessard, Hanns Lochmuller, Hugh McMillan, Kathryn Selby, Gerald Pfeffer, Lawrence Korngut, Cynthia Gagnon, Kednapa Thavorn, Jodi Warman‐Chardon   +13 more
wiley   +1 more source

Specificity, synergy, and mechanisms of splice-modifying drugs

Nature Communications
Drugs that target pre-mRNA splicing hold great therapeutic potential, but the quantitative understanding of how these drugs work is limited. Here we introduce mechanistically interpretable quantitative models for the sequence-specific and concentration ...
Yuma Ishigami, Mandy S. Wong, Carlos Martí-Gómez, Andalus Ayaz, Mahdi Kooshkbaghi, Sonya M. Hanson, David M. McCandlish, Adrian R. Krainer, Justin B. Kinney   +8 more
doaj   +1 more source

Docking and Molecular Dynamics Simulation‐Based Analysis of Advanced Small‐Molecule Kinase Inhibitors Identified pre‐let‐7 miRNA Binders

ChemBioChem, Volume 26, Issue 22, November 17, 2025.
An integrated computational approach evaluating the binding between pre‐let‐7 microRNA and small‐molecule kinase inhibitors (SMKIs) revealed varied pre‐let‐7 binding affinities among the advanced SMKIs. The results justified the characterization of potential RNA targets for kinase inhibitors and small molecules with protein targets in general.
Soma Roy, Yang Liu, Peng Wu
wiley   +1 more source

Risdiplam therapy in adults with 5q-SMA: observational study on motor function and treatment satisfaction

BMC Neurology
Background We aimed to describe the experience of a single neuromuscular center in Germany in treating adult spinal muscular atrophy (SMA) patients with risdiplam and to analyze motor function and treatment satisfaction during a follow-up period up to 20 
Bogdan Bjelica, Camilla Wohnrade, Iraima Cespedes, Alma Osmanovic, Olivia Schreiber-Katz, Susanne Petri   +5 more
doaj   +1 more source

Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives

Therapeutics and Clinical Risk Management, 2019
Tamara Dangouloff,1 Laurent Servais1,2 1Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège & University of Liège, Liège, Belgium ...
Dangouloff T, Servais L
doaj  

Zdravljenje prvih bolnikov z gensko nadomestno terapijo v Sloveniji; otroka s spinalno mišično atrofijo, ki sta se zdravila z zdravilom onasemnogene abeparvovek

Zdravniški Vestnik
Spinalna mišična atrofija (SMA) je redka genetska bolezen, ki prizadene motorične nevrone, zaradi česar propadajo mišice ter se slabša splošno stanje bolnika.
Eva Vrščaj, Tanja Golli, Tanja Loboda, Alenka Piskar, Matjaž Homan, Damjan Osredkar   +5 more
doaj   +1 more source

JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam [PDF]

Risdiplam is a once-daily oral, survival of motor neuron 2 (SMN2) splicing modifier approved for the treatment of spinal muscular atrophy (SMA). JEWELFISH (NCT03032172) investigated the safety, tolerability, pharmacokinetics (PK), and PK/pharmacodynamic (
Bruno, Claudio, Carruthers, Imogen, Chiriboga, Claudia A, Duong, Tina, Fischer, Dirk, Fontoura, Paulo, Gorni, Ksenija, Jaber, Birgit, JEWELFISH Study Group, Kirschner, Janbernd, Kletzl, Heidemarie, Kostera-Pruszczyk, Anna, Martin, Carmen, Mercuri, Eugenio, Muntoni, Francesco, Scalco, Renata S   +15 more
core  

Respiratory morbidity in patients with spinal muscular atrophy—a changing world in the light of disease-modifying therapies

Frontiers in Pediatrics
Respiratory complications are common in spinal muscular atrophy (SMA) and significantly contribute to morbidity and mortality in these patients. Generalized respiratory and bulbar muscle weakness translates into diverse and complex clinical consequences ...
Leen Lagae, Marijke Proesmans, Marijke Proesmans, Marleen Van den Hauwe, Marleen Van den Hauwe, François Vermeulen, François Vermeulen, Liesbeth De Waele, Liesbeth De Waele, Mieke Boon, Mieke Boon   +10 more
doaj   +1 more source

In utero therapy for spinal muscular atrophy: closer to clinical translation. [PDF]

Brain
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.
Tizzano EF, Lindner G, Chilcott E, Finkel RS, Yáñez-Muñoz RJ.   +4 more
europepmc   +3 more sources

Considerations for Treatment in Clinical Care of Spinal Muscular Atrophy Patients

Children
Spinal Muscular Atrophy is a neurodegenerative disease which can lead to muscle weakness, paralysis, and in some cases death. There are many factors that contribute to the severity of symptoms and those factors can be used to determine the best course of
Stephanie Voight, Kapil Arya
doaj   +1 more source