Results 121 to 130 of about 49,589 (307)

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

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

Transcriptomic signatures reveal systemic adaptations and immune modulation in response to training and competitive racing in horses

Equine Veterinary Journal, EarlyView.
Abstract Background The molecular mechanisms underlying adaptation to physical exertion and racing stress in horses remain incompletely understood. Peripheral blood transcriptomics offers a minimally invasive method to monitor systemic responses to exercise and identify biomarkers of adaptation or overload. Objectives To evaluate transcriptomic changes
Izabela Dąbrowska, Jowita Grzędzicka‐Agko, Paula Kiełbik, Michał Trela, Olga Witkowska‐Piłaszewicz   +4 more
wiley   +1 more source

The pathophysiology and treatment of autoimmune neuromuscular junction diseases

Rinsho Shinkeigaku, 2011
The neuromuscular junction lacks the protection of the blood-nerve barrier and is vulnerable to antibody-mediated disorders. Myasthenia gravis (MG) is caused by the failure of neuromuscular transmission mediated by autoantibodies against acetylcholine receptors (AChR) and muscle-specific receptor tyrosine kinase (MuSK)/LDL-receptor related protein 4 ...
openaire   +3 more sources

Research progress on the depth of anesthesia monitoring based on the electroencephalogram

Ibrain, Volume 11, Issue 1, Page 32-43, Spring 2025.
Electroencephalogram (EEG) can noninvasive, continuous, and real‐time monitor the state of brain electrical activity, and the monitoring of EEG can reflect changes in the depth of anesthesia (DOA). The development of artificial intelligence can enable anesthesiologists to extract, analyze, and quantify DOA from complex EEG data.
Xiaolan He, Tingting Li, Xiao Wang
wiley   +1 more source

Neurological complications of immune checkpoint inhibitors: what happens when you \u27take the brakes off\u27 the immune system. [PDF]

, 2018
Patients with advanced malignancies treated with immune checkpoint inhibitors are at increased risk for developing immune-related neurological complications.
Dalakas, Marinos
core   +1 more source

Immunomodulation of the Prostate Tumor Microenvironment Following Inorganic Arsenic Exposure

Journal of Applied Toxicology, EarlyView.
ABSTRACT The tumor microenvironment (TME) influences prostate cancer (PCa) progression through stromal and immune interactions. Adipose‐derived mesenchymal stromal cells (ASCs) modulate immune tone, while inorganic arsenic (iAs), a widespread toxicant, is linked to immune suppression and carcinogenesis.
Joseph J. Shearer, Cosette Rivera‐Cruz, Alexandre M. B. Cavalca, Carlos Eduardo Fonseca‐Alves, Marxa L. Figueiredo   +4 more
wiley   +1 more source

Ivermectin Toxicity in Humans and Animals: Clinical Spectrum, Mechanisms, and Management

Journal of Applied Toxicology, EarlyView.
ABSTRACT Ivermectin is a widely used macrocyclic lactone with established efficacy against a broad range of parasitic infections in humans and animals and a long‐standing reputation for clinical safety. However, increasing evidence indicates that ivermectin can produce clinically relevant toxicity under specific conditions, particularly involving the ...
Serkan Yilmaz, Bayram Göktaş, İlker Ateş, Mustafa Çelik   +3 more
wiley   +1 more source

Basal lamina: A novel pH regulator at the neuromuscular junction

Science Progress
Proton concentration can change within the cleft during synaptic activity due to vesicular release and Ca 2+ extrusion from cellular compartments. These changes within the synaptic cleft can impact neural activity by proton-dependent modulation of ion ...
Ryan Durbin, Robert Renden
doaj   +1 more source