Results 251 to 260 of about 6,958,618 (308)

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

Large language models as medical code selectors: a benchmark using the International Classification of Primary Care. [PDF]

JAMIA Open
Anjos de Almeida V, de Camargo V, Gómez-Bravo R, van Boven K, van der Haring E, Finger M, Fernandez Lopez L.   +6 more
europepmc   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Changes in Physician Emigration and Density After the 2010 WHO Global Code of Practice.

JAMA Health Forum
Ramesh T, Mukherjee JS, Zhang F, Jena AB, Yu H.   +4 more
europepmc   +1 more source

P.A.D.D.L.E.: a hypothesis generation tool for assessing pollution's potential role in disease. [PDF]

Sci Rep
Ratley G, Vijendra A, Jordan J, Thota P, Zeldin J, Chaudhary PP, Myles IA.   +6 more
europepmc   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

An intrinsic loop-mediated structural stability modulating inhibitor potency in the SADS-CoV and SARS-CoV-2 main proteases. [PDF]

PLoS Pathog
Zeng R, Cui S, Xia X, Huang C, Sun J, Deng X, Gui Q, Fan H, Liu X, Yu Y, Yang S, Lei J.   +11 more
europepmc   +1 more source

Benchmarking large language models for predictive modeling in biomedical research with a focus on reproductive health. [PDF]

Cell Rep Med
Sarwal R, Tarca V, Dubin CA, Kalavros N, Bhatti G, Bhattacharya S, Butte A, Romero R, Stolovitzky G, Oskotsky TT, Tarca AL, Sirota M.   +11 more
europepmc   +1 more source

Assessment of Potential Exposure to Pregnancy-Contraindicated Medications Among Women of Reproductive Age in Japan: A Retrospective Database Study. [PDF]

Pharmacy (Basel)
Ura H, Matsuoka N.
europepmc   +1 more source