Results 91 to 100 of about 1,183,020 (217)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Ocurrence of Nyssomyia intermedia (Diptera: Psychodidae) in intradomiciliary environments: a potential vector of american cutaneous leishmaniasis in Montezuma, 2024. [PDF]

Epidemiol Serv Saude
Lopes BT, Oliveira CH, Souza PAA, Cordeiro-de-Barros RM, Teixeira TJ, Santos RMD, Menezes ASDS, Abreu FVS.   +7 more
europepmc   +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, EarlyView.
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

Distribution and Host Selection of the Chigger Mite Leptotrombidium rupestre, a Potential Vector of Scrub Typhus, in Southwest China. [PDF]

Vet Med Sci
Yu R, Guo XG, Lv Y, Yin PW, Song WY, Peng PY, Qian TJ, Xiang R, Chen YL, Li B.   +9 more
europepmc   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Blowflies are potential vector for avian influenza virus at enzootic area in Japan. [PDF]

Sci Rep
Fujita R, Tachi T, Hino M, Nagata K, Saiki M, Inumaru M, Higa Y, Itokawa K, Uemura N, Matsumura R, Kai I, Sawabe K, Kobayashi M, Isawa H, Kusakabe T, Matsuo K, Kasai S.   +16 more
europepmc   +1 more source

COVID‐19 Vaccination Is Not Associated With the Development of Idiopathic Inflammatory Myositis in US Veterans

Arthritis Care &Research, EarlyView.
Objective Several case reports have proposed a potential association between COVID‐19 vaccination and the subsequent development of idiopathic inflammatory myositis (IIM). This study examined prior COVID‐19 vaccination in US veterans who developed new‐onset IIM compared to those without new‐onset IIM.
Caleb Hernández, Naomi Schlesinger, Jorge Rojas, Jessica A. Walsh, Tawnie J. Braaten, Gary A. Kunkel, Makoto Jones, Brian C Sauer, Julio Facelli, Grant W. Cannon, Dorota Lebiedz‐Odrobina   +10 more
wiley   +1 more source

Spatial-temporal distribution of chikungunya virus in Brazil: a review on the circulating viral genotypes and Aedes (Stegomyia) albopictus as a potential vector. [PDF]

Front Public Health
Resck MEB, Câmara DCP, Dos Santos FB, Dos Santos JPC, Alto BW, Honório NA.   +5 more
europepmc   +1 more source

Discordance Between Systemic Lupus Erythematosus Disease Activity Index Domain Weights and Their Association With Organ Damage Accrual

Arthritis Care &Research, EarlyView.
Objective Studies of damage accrual in patients with systemic lupus erythematosus (SLE) show associations with disease activity measured by the SLE Disease Activity Index 2000 (SLEDAI‐2K), but these associations are imperfect. SLEDAI scores are powerfully influenced by weightings (1–8) assigned to each domain.
Kevin Zhang, Eric F. Morand, Sarah E. Boyd, François Petitjean, Alberta Hoi, Rachel Koelmeyer, Iolanda Miceli, Julie A. Monk, Hieu T. Nim   +8 more
wiley   +1 more source

A Q‐Learning Algorithm to Solve the Two‐Player Zero‐Sum Game Problem for Nonlinear Systems

International Journal of Adaptive Control and Signal Processing, Volume 39, Issue 3, Page 566-581, March 2025.
A Q‐learning algorithm to solve the two‐player zero‐sum game problem for nonlinear systems. ABSTRACT This paper deals with the two‐player zero‐sum game problem, which is a bounded L2$$ {L}_2 $$‐gain robust control problem. Finding an analytical solution to the complex Hamilton‐Jacobi‐Issacs (HJI) equation is a challenging task.
Afreen Islam, Anthony Siming Chen, Guido Herrmann   +2 more
wiley   +1 more source