Results 191 to 200 of about 1,402,871 (317)

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

Control of western equine encephalitis [PDF]

Bibliography: p.

core  

Advancing Malaria Vector Control: Insights Into Mosquito Immunity and Genetic Strategies. [PDF]

ScientificWorldJournal
Cleanclay WD, Adedoyin ED, Zakari S, Ogunlana OO, Iweala EEJ, Chinedu SN.   +5 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

Lateral exchange bias for Néel-vector control in atomically thin antiferromagnets. [PDF]

Nat Commun
Pellet-Mary C, Dutta D, Tschudin MA, Siegwolf P, Gross B, Broadway DA, Cox J, Schrader C, Happacher J, Chica DG, Dean CR, Roy X, Maletinsky P.   +12 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

Efficacy of ivermectin for malaria vector control: a systematic review and meta-analysis of randomized clinical trials. [PDF]

Malar J
Ramadan S, Talkhan A, Mansour A, Kanaan D, Abbas AN, Awad A, Sahel OB, Hamzeh LH, Alfaki A, Hany M, Elnouty M, Amin MHJ.   +11 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

Trade-offs between Xylella fastidiosa vector control and conservation of beneficial arthropods in Mediterranean olive groves. [PDF]

J Econ Entomol
Laterza I, Ragone G, Tedone B, Bodino N, de Lillo E, Cornara D, Tamburini G.   +6 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