Results 121 to 130 of about 3,440,639 (300)

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Mechanism of Gene Duplication

, 2013
A two-exon gene is flanked by two Alu elements and a neighbouring replication termination site. Recombination between the two Alu elements leads to a tandem duplication event, as does a replication error instigated by the replication termination site ...
Matthew Hurles (56488)
core   +1 more source

Metabolic and Fluid Biomarkers Support Microglia Activation in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis is an incurable neurodegenerative disease involving motor neuron degeneration and metabolic and immune dysfunction. We combined clinical data, cerebrospinal fluid biomarkers and fluorodeoxyglucose positron emission tomography with magnetic resonance imaging to investigate the role of reactive microglia in disease ...
Matteo Zanovello, Francesca Serani, Alen Bebeti, Federica Paredi, Giulia Quadrio, Andrea Fortuna, Giacomo Maria Minicuci, Elena Pegoraro, Annachiara Cagnin, Diego Cecchin, Gianni Sorarù   +10 more
wiley   +1 more source

Gene structure of P53 gene and location of intron 3 16-bp duplication polymorphism (rs17878362).

, 2013
Gene structure of P53 gene and location of intron 3 16-bp duplication polymorphism (rs17878362).
Ming Xu (151206), Yao Xue (322282), Zhizhong Zhang (132866), Haixia Zhu (396360), Dongmei Wu (215055), Haiyan Chu (123641), Zhengdong Zhang (48217)   +6 more
core   +1 more source

Cerebrospinal Fluid Over Plasma Links Analytes to Cognitive Decline in Older Adults at Risk for Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To identify inflammatory analytes in cerebrospinal fluid (CSF) and plasma associated with cognitive decline in cognitively normal (CN) older adults at risk for Alzheimer's disease (AD). Methods In a longitudinal study of 118 CN older adults (65–80 years, 54% APOE ε4, 26% preclinical AD), 1331 CSF and 1501 plasma analytes were ...
Jagan A. Pillai, Audrey Zhu, Chunxuan Ma, Ming Wang, Yifan Yang, Lynn M. Bekris, Maria Khrestian, Frank P. DiFilippo, Mikhail Nasrallah, Aaron Burberry, James B. Leverenz, Yuan Hou, Feixiong Cheng, Stephen M. Rao   +13 more
wiley   +1 more source

Molecular Diagnosis in Children With Febrile Seizures: Beyond the Conventional Clinical Classification

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Febrile seizures (FS) are currently classified as simple or complex primarily to describe seizure characteristics, with limited ability to identify the underlying etiology. We evaluated whether molecular diagnosis could complement conventional classification and improve the diagnosis and management of FS.
Jia Wang, Mengna Zhang, Yangyang Wang, Xiuyu Shi, Baoguang Li, Xiuxia Wang, Dan Sun, Sanqing Xu, Jianbo Zhao, Lijun Du, Qiming Pang, Xiaoming Liu, Chunhui Tang, Xiaohua Li, Jiuwei Li, Yanli Ma, Jianxiang Liao, Gulixian Abudureyimu, Jianmin Liang, Yuan Wang, De Wu, Jian Wu, Liping Zou   +22 more
wiley   +1 more source

Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy

, 2012
Sodium channel gene aberrations are associated with a wide range of seizure disorders, particularly Dravet syndrome. They usually consist of missense or truncating gene mutations or deletions.
Tschumi, Sibylle, Strozzi, Susi, Gallati, Sabina, Rieubland, Claudine, Goeggel Simonetti, Barbara, Lemke, Johannes R, Courage, Carolina, Tschumi S, Goeggel Simonetti B, Strozzi S, Gallati S, Rieubland C, Lemke, Johannes, Courage C, Lemke JR   +14 more
core   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

Arthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source

A Scoping Review and Meta‐Analysis of Proportions of Central Nervous System Manifestations Reported in Patients with Sjögren's Disease

Arthritis Care &Research, EarlyView.
Objective The objective of this scoping review was to synthesize evidence on the proportion of individuals living with Sjögren's disease who experience central nervous system (CNS) manifestations. Methods We searched MEDLINE (via PubMed) and Embase from 1980 through January 29, 2026, and the ECRI Guidelines Trust from 2020 through January 29, 2026 ...
Arun Varadhachary, Ghaith Noaiseh, Julie Frantsve‐Hawley, Frederick B. Vivino, Jennifer A. McCombe, Shamik Bhattacharyya, E. Sherwood Brown, Andrew R. Carey, Robert Fox, Thomas Grader‐Beck, Janet E. Lewis, Stephen Maitz, Steven Mandel, Astrid Rasmussen, George Sarka, R. Hal Scofield, Daniel J. Wallace, Rochelle Zak, Kristie Cox, Katherine M. Hammitt, Steven Carsons, Nancy Carteron   +21 more
wiley   +1 more source

Conformational Switching of Proteins on Material Surfaces Enabled by Peptide‐Oriented Adsorption

Advanced Functional Materials, EarlyView.
Responsive biointerfaces could be achieved using conformationally responsive proteins; however, their interconversion can be lost upon surface adsorption. Herein, we demonstrate that the incorporation a Au binding peptide into calmodulin allows for binding control on Au wherein the protein retains conformational switching. This capability was confirmed
Sakthirupini Ramamurthy, Kyle B. Meerbott, Lorenzo Travaglini, Garima S. Dobhal, Artur Sawicki, Marc R. Knecht, Tiffany R. Walsh, Dominic J. Glover   +7 more
wiley   +1 more source