Results 151 to 160 of about 276,627 (258)

Show me the Money: Finance Models in Epilepsy Practice. [PDF]

Epilepsy Curr
Zutshi D, Klatte E, Basha M, Osburn L, Segal E, Garga N, Das RR.   +6 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Multi-Omics Dissection of the Shared Genetic Architecture Between Sleep Traits and Epilepsy. [PDF]

Biology (Basel)
Wang T, Li J, Chen D, Liu Y, Fang C, Wang X, Song Z, Guo M, Wang Y, Naumovski N, Zheng X.   +10 more
europepmc   +1 more source

‘Turkeys Cannot Vote for Christmas’: Why Epistemic Disobedience in an Anti‐Black World Matters

Australian Journal of Social Issues, EarlyView.
ABSTRACT Never in the history of global coloniality has the idea of epistemic disobedience been as important as in the 21st century. This is not only because the struggle for decolonisation has shifted from physical confrontation between the coloniser and the colonised into a battle of ideas but also because the former has deployed the idea of ...
Morgan Ndlovu
wiley   +1 more source

Correction to: Machine learning-based reconstruction of 2D MRI for quantitative morphometry in epilepsy. [PDF]

Imaging Neurosci (Camb)
Ratcliffe C, Taylor PN, de Bézenac C, Das K, Biswas S, Marson A, Keller SS.   +6 more
europepmc   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Vagal Nerve Stimulation and Critical Care Management Challenges for Status Epilepticus in a Pregnant Patient With Focal Cortical Dysplasia: Case Report

Case Reports in Critical Care
Evelin Zulema Camacho-Castillo, Daniel San-Juan, Jocelyn Cruz-Pérez, Jorge Alejandro Zepeda-Pérez, Miguel Benjamin Cervera-Sánchez, Yazmin Palomares-Salazar, Guillermo Axayacalt Gutiérrez-Aceves   +6 more
doaj   +1 more source

Geographic Disparities in People with Epilepsy: Differences in Self-Efficacy and Quality of Life. [PDF]

J Epilepsy Res
Tan L, Branning R, Yu H, Fiorelli N, Black J, Adeniyi C, Tyrrell M, Briggs F, Ghearing GR, Sajatovic M.   +9 more
europepmc   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Biological Context–Informed and Population-Stratified Strategies Improve Genetic Diagnosis of CCDC22-Related Disorder

Genetics Research
Pei-Qi Zhang, Peng-Yu Wang, Si-Qi Zhang, Yan Ding, Wen-Hui Liu, Yao Wang, Kai Peng, Hua Li, Sheng Luo, Heng Meng, Jing Guo   +10 more
doaj   +1 more source