Results 181 to 190 of about 404,647 (233)

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S. Arterbery, Anita M. Bagley, Michael A Gargano, Jeremy P Bauer, Daniel Danis, Philip Giampietro, Ellen Raney, Lauren Rekerle, Mallory Shingle, Jon R. Davids, Peter N. Robinson   +12 more
wiley   +1 more source

Toward large reasoning models: A survey of reinforced reasoning with large language models. [PDF]

Patterns (N Y)
Xu F, Hao Q, Shao C, Zong Z, Li Y, Wang J, Zhang Y, Wang J, Lan X, Gong J, Ouyang T, Meng F, Yan Y, Yang Q, Song Y, Ren S, Hu X, Feng J, Gao C, Li Y.   +19 more
europepmc   +1 more source

Factor Analysis‐Based Quantitative Endotyping Improves Associations With CRS Cross‐Sectional and Longitudinal Outcomes

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disease characterized by persistent sinonasal inflammation. There is increasing interest in endotype‐based classification, which categorizes CRS based on underlying inflammatory pathways.
Brooke N. Gleason, Zhidi Luo, Aditi Agarwal, Siyuan Dong, Regan L. Harmon, Junqin Bai, Chun‐Kang Liao, Julia Huang, David B. Conley, Kevin C. Welch, Robert C. Kern, Stephanie S. Smith, Anju T. Peters, Whitney S. Stevens, Atsushi Kato, Lutfiyya N. Muhammad, Bruce K. Tan   +16 more
wiley   +1 more source

Building on models-a perspective for computational neuroscience. [PDF]

Cereb Cortex
Plesser HE, Davison AP, Diesmann M, Fukai T, Gemmeke T, Gleeson P, Knight JC, Nowotny T, René A, Rhodes O, Roque AC, Senk J, Schwalger T, Stadtmann T, Tiddia G, van Albada SJ.   +15 more
europepmc   +1 more source

Association between Human Leukocyte Antigen Alleles and Neuropathological Outcomes in Lewy Body Disease

Annals of Neurology, EarlyView.
Objective Lewy body disease (LBD) is a complex neurodegenerative disorder characterized by the accumulation of misfolded α‐synuclein in the brain. Neuroinflammation has long been implicated in LBD pathogenesis, and recent genetic studies in Parkinson's disease (a clinical manifestation of LBD) have shown consistent association with the human leukocyte ...
Marios Gavrielatos, Michael G. Heckman, Alexandra I. Soto‐Beasley, Sophia G. Blumenfeld, Xu Hou, Shunsuke Koga, Melissa E. Murray, Koji Kasanuki, Daisuke Ono, Fabienne C. Fiesel, Ryan J. Uitti, Julie A. Fields, Hugo Botha, Vijay K. Ramanan, Kejal Kantarci, Val J. Lowe, Clifford R. Jack, Nilufer Ertekin‐Taner, J. Raphael Gibbs, Bryan J. Traynor, Clifton L. Dalgard, Rodolfo Savica, Jonathan Graff‐Radford, Ronald C. Petersen, R. Ross Reichard, Neill R. Graff‐Radford, Tanis J. Ferman, Bradley F. Boeve, Zbigniew K. Wszolek, Wolfdieter Springer, Ziv Gan‐Or, Emmanuel Mignot, Sonja W. Scholz, Dennis W. Dickson, Owen A. Ross   +34 more
wiley   +1 more source

AI-based hardware and software tools in microscopy to boost research in immunology and virology. [PDF]

Front Immunol
Morone D, D'Antuono R.
europepmc   +1 more source

A Pilot Observational Study in Ohio, USA of the Healing of Our Veterans Equine Services Intensive Intervention for Veterans with Trauma Histories. [PDF]

Healthcare (Basel)
Held A, Hubbard K, Nazarenko E, Marchand W.   +3 more
europepmc   +1 more source

Enhancing mobile EEG: Software development and performance insights of the DreamMachine. [PDF]

HardwareX
Samimisabet P, Krieger L, De Palol MV, Gün D, Pipa G.   +4 more
europepmc   +1 more source

Emerging Roles of Post-Translational Modifications in Metabolic Homeostasis and Type 2 Diabetes. [PDF]

Int J Mol Sci
Kim YK, Kim H.
europepmc   +1 more source

AgroLD: a knowledge graph for the plant sciences. [PDF]

BMC Genom Data
Pierre L, Bertrand P, Ndomassi T, Yann P, Bill Gates HH, Valentin G, Manuel R.   +6 more
europepmc   +1 more source