Results 131 to 140 of about 63,635 (266)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Autonomic Receptor Autoantibodies in Complex Regional Pain Syndrome and Other Chronic Pain Conditions: A Cross-Sectional Analysis. [PDF]

Biomedicines
van der Spek DPC, Hoffenkamp RH, Huygen FJPM, Bharwani KD, Eijkelkamp N, Dirckx M.   +5 more
europepmc   +1 more source

GPIHBP1 Autoantibody-Related Hypertriglyceridemia in Children: A Report of Two Cases and a Review of Pediatric Cases From the Literature. [PDF]

Mol Genet Genomic Med
Hsu RH, Hwu WL, Yang FJ, Lee NC, Chien YH.   +4 more
europepmc   +1 more source

The causal relationship between systemic lupus erythematosus and juvenile myoclonic epilepsy: A Mendelian randomization study and mediation analysis

Ibrain, Volume 11, Issue 1, Page 98-105, Spring 2025.
Mendelian randomization (MR) studies were conducted using the inverse‐variance weighted (IVW) method, MR‐Egger and weighted median on juvenile myoclonic epilepsy (JME), and systemic lupus erythematosus (SLE) data from the Integrative Epidemiology Unit (IEU) Open genome‐wide association study (GWAS) database and the International League Against Epilepsy
Sirui Chen, Ningning Zhang, Ruirui Zhang, Lan Zhang, Dadong Luo, Junqiang Li, Yaqing Liu, Yunan Wang, Xinyue Duan, Xin Tian, Tiancheng Wang   +10 more
wiley   +1 more source

Unbiased autoantibody screening using nucleic acid protein programmable array in pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections. [PDF]

Front Behav Neurosci
Eremija J, Daines M, Rice S, Madan JC, Swedo S, Ghishan FK, Kiela PR.   +6 more
europepmc   +1 more source

Vascular dysfunction in women with recurrent pregnancy loss: Possible association with antiphospholipid antibodies

International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 206-214, April 2025.
Abstract Objective Antiphospholipid antibodies (aPL) are recognized to have a pivotal role in recurrent pregnancy loss (RPL) and cardiovascular disease. Therefore, we assessed the vascular function of women with RPL and examined the association with each type of aPL.
Titi Yang, Emi Okada, Maho Todoroki, Siyu Liu, Rukmali Athurupana, Kumie Kataoka, Chiaki Kashino, Takashi Mitsui, Toru Hasegawa, Yasuhiko Kamada, Hisashi Masuyama, Mikiya Nakatsuka   +11 more
wiley   +1 more source

Analytical Validation of an ELISA Assay for Maternal Autoantibody-Related Autism. [PDF]

Diagnostics (Basel)
McInerney M, Hurley B, Barkow J, Menning K, Nicolace J, Schauer J, Van de Water J, Wassman ER.   +7 more
europepmc   +1 more source

Editorial: Autoantibodies [PDF]

Frontiers in Immunology, 2019
Holmdahl, Rikard, Nimmerjahn, Falk, Ludwig, Ralf J.   +2 more
openaire   +3 more sources

Gene expression signatures from single‐cell transcriptomics predict Sjögren's syndrome

iMetaOmics, EarlyView.
A machine learning‐based 12‐gene signature (SjS.Sig) was developed from scRNA‐seq data of PBMCs from Sjögren's syndrome patients. The model was validated using bulk RNA‐seq datasets and further confirmed through flow cytometry and qPCR analysis in an independent clinical cohort, demonstrating robust diagnostic potential.
Shumin Cheng, Ling Yan, Yilin Wu, Yan Li, Ziheng Ye, Zhen Zhang, Yi Zhang, Jingyun Ma, Yuhong Liang, Zhaofan Luo, Huacheng Wang, Meili Gao, Chao Qin, Ke Zhu, Yun Leng, Kamran Ullah, Jun Liang, Haiyan Yan, Guan Yang, Yingqian Mo, Bihui Huang   +20 more
wiley   +1 more source

Frequency of islet autoantibody seropositivity among adults with newly diagnosed type 2 diabetes in the Kazakh population: A cross-sectional study. [PDF]

J Diabetes Investig
Kudabayeva K, Tleumagambetova B, Bazargaliyev Y, Vudu L.   +3 more
europepmc   +1 more source