Results 171 to 180 of about 256,729 (300)

Genetic variability in the PLIN4 gene: A new sequence duplication causing autophagic vacuolar myopathy

Genes and Diseases
Alessandra Carnazzi, Eliana Iannibelli, Sara Gibertini, Lucia Nicolini De Gaetano, Giorgia Riolo, Franco Salerno, Andrea Legati, Daniele Ghezzi, Lorenzo Maggi, Alessandra Ruggieri   +9 more
doaj   +1 more source

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

Health Expect
Osman H, Adamji Z, Lintern S, Smith IC, Grant A, Lessard LER, Lochmuller H, McMillan H, Selby K, Pfeffer G, Korngut L, Gagnon C, Thavorn K, Warman-Chardon J.   +13 more
europepmc   +1 more source

Switching disease‐modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes

British Journal of Clinical Pharmacology, EarlyView.
With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić, Elvira Meni Maria Gkrinia, Patrick Eustaquio, Andrea Katrin Faour, Dinko Vitezić   +4 more
wiley   +1 more source

Profiling the TRPV4 ankyrin repeat domain interactome and its disruption by neuromuscular disease-causing mutations. [PDF]

J Biol Chem
Loder AK, Kosmanopoulos GP, Aisenberg WH, Cox E, Meeker AR, Blackshaw S, Gaudet R, Hellmich UA, McCray BA, Sumner CJ, Sullivan JM.   +10 more
europepmc   +1 more source

Decrease of Muscle Mass in Young Patients With Neuromuscular Disease: Assessment of Sarcopenia. [PDF]

J Korean Med Sci, 2023
Kim J, Yoon H, Lim HJ, Kim HW, Suk YJ, Park KB, Lee MJ.   +6 more
europepmc   +1 more source

The evolving therapeutic landscape of spinal muscular atrophy – A scoping review of investigational agents, emerging delivery technologies and strategic innovations

British Journal of Clinical Pharmacology, EarlyView.
Spinal muscular atrophy (SMA) is a severe neuromuscular disease with emerging therapeutic complexity. This review aims to systematically map the global pipeline of investigational treatments for SMA. Using ClinicalTrials.gov and complementary international registries, we identified 21 planned or ongoing interventional trials from 2020 to 2025 targeting
Andrej Belančić, Patrick Eustaquio, Elvira Meni Maria Gkrinia, Ivana Stević, Eugen Javor, Yun Wah Lam, Slobodan Janković, Dinko Vitezić   +7 more
wiley   +1 more source

Rethinking Pulmonary Function Tests in Patients with Neuromuscular Disease: The Potential Role of Electrical Impedance Tomography. [PDF]

J Clin Med
Vianello A, Guarnieri G, Lionello F.
europepmc   +1 more source

A scalable human iPSC-based neuromuscular disease model on suspended biobased elastomer nanofiber scaffolds. [PDF]

Biofabrication, 2023
Cheesbrough A, Harley P, Riccio F, Wu L, Song W, Lieberam I.   +5 more
europepmc   +1 more source

Contribution of neuromuscular Impairment to physical functional Status in Patients with Lumbar Spinal Stenosis [PDF]

, 1994
Fossel, Anne H., Katz, Jeffrey N., Liang, Matthew H., Lipson, Stephen J., Stucki, Gerold   +4 more
core  

Risk of injury associated with the sedative potential of second‐generation antihistamines: A nationwide retrospective cohort study

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Individual second‐generation antihistamines may possess differential sedative potential due to the variability in central histamine receptor H1 occupancy. This study aimed to evaluate whether the sedative potential of second‐generation antihistamines is associated with the risk of injury during Japan's pollen season. Methods We conducted a
Jumpei Taniguchi, Shotaro Aso, So Sato, Hideo Yasunaga   +3 more
wiley   +1 more source