Results 71 to 80 of about 350 (155)

Brain mitochondrial proteome alteration driven by creatine deficiency suggests novel therapeutic venues for creatine deficiency syndromes

, 2019
Creatine (Cr) is a small metabolite with a central role in energy metabolism and mitochondrial function. Creatine deficiency syndromes are inborn errors of Cr metabolism causing Cr depletion in all body tissues and particularly in the nervous system ...
Molinaro, Angelo, Cioni G., Urbani, Andrea, Ronci, M., Baroncelli, Laura, Pizzorusso, T., Alessandri M. G., Mazzoni M. R., Lucacchini, A., Urbani, A, Giusti L., Cioni, Giovanni, Molinaro A., Giusti, Laura, Boldrini C., Lacerenza, S., Boldrini, C., Urbani, A., Ronci M., Lacerenza, Serena, Baroncelli L., Mazzoni, Maria Rosa, Molinaro, A., Mazzoni, M. R., Lucacchini, Antonio, Lacerenza S., Boldrini, Claudia, Lucacchini A., Ronci, Maurizio, Alessandrì, Maria Grazia, Urbani A., Ciregia, Federica, Cioni, G., Baroncelli, L., Alessandrì, M. G., Ciregia F., Pizzorusso T., Pizzorusso, Tommaso, Giusti, L.   +38 more
core   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Implantable electrochemical sensors for continuous blood monitoring

FlexMat, EarlyView.
Implantable electrochemical sensors enable direct, in situ, and continuous blood monitoring, shifting diagnosis from population‐based averages to dynamic, individualized analysis. This review systematically examines the influence of the unique blood properties on sensor design.
Kuangyi Zou, Yuanzhen Wang, Haidong Wang, Ye Zhang   +3 more
wiley   +1 more source

Dynamic electro‐clinical features in Guanidinoacetate N‐methyltransferase deficiency: A familial case series

Epilepsia Open
Guanidinoacetate N‐methyltransferase deficiency is an inborn error of creatine metabolism, responsible for the absent conversion of guanidinoacetic acid into creatine, resulting in cerebral creatine deficit. It could present a variety of symptoms such as
Mariapaola Schifino, Emanuele Bartolini, Stefano Pagano, Camilla Meossi, Rosa Pasquariello, Roberta Battini   +5 more
doaj   +1 more source

Roles of histone lysine methylation in neurodevelopment and related disorders

Ibrain, EarlyView.
This graphical abstract centers on the theme of dynamic balance and systematically outlines the role of histone lysine methylation in neurodevelopment and related disorders. The figure first presents two key classes of regulators that control this balance—“writers” and “erasers”—and then indicates how interactions among different epigenetic ...
Yun Chen, Yi Zhang, Hong Zhang, Xiaoli Liang   +3 more
wiley   +1 more source

Acute HCV/HIV coinfection is associated with cognitive dysfunction and cerebral metabolite disturbance, but not increased microglial cell activation.

PLoS ONE, 2012
BackgroundMicroglial cell activation and cerebral function impairment are described in both chronic hepatitis C viral (HCV) and Human-Immune-Deficiency viral (HIV) infections.
Lucy J Garvey, Nicola Pavese, Anil Ramlackhansingh, Emma Thomson, Joanna M Allsop, Marios Politis, Ranjababu Kulasegaram, Janice Main, David J Brooks, Simon D Taylor-Robinson, Alan Winston   +10 more
doaj   +1 more source

Early prediction of multiple organ failure for sepsis patients based on machine learning algorithms

Journal of Intelligent Medicine, EarlyView.
Abstract In recent years, there has been a notable rise in sepsis incidence leading to more multiple organ failure and higher mortality. The lack of effective treatments for sepsis highlights the importance of early prediction in preventing multiple organ failure. This study aimed to develop a model for the early prediction of multiple organ failure in
Runnan He, Nan Su, Yuqing Wang, Yulin Sun, Xin Weng, Tania Pereira, Chenggong Hu, Keliang Xie, Meijun Pang, Kuo Zhang, Chuanxiang Huang, Xiuyun Liu   +11 more
wiley   +1 more source

Recent Trends in Metabolomics by NMR Spectroscopy

Angewandte Chemie, Volume 138, Issue 24, 8 June 2026.
AI tools were applied to analyze more than 5 000 publications indexed in Scopus (2018–2025), identifying key trends and research directions in NMR‐based metabolomics. The artificial intelligence‐assisted workflow classified papers into six main fields of application, human health, food and nutrition, veterinary science, plants, environment, and ...
Giorgio Di Paco, Gaia Meoni, Veronica Ghini, Alessia Vignoli, Leonardo Tenori, Paola Turano, Claudio Luchinat   +6 more
wiley   +2 more sources

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Probable sepsis‐associated encephalopathy as a component of multiple organ dysfunction syndrome in a cat with pyothorax

Australian Veterinary Journal, EarlyView.
A 2‐year‐old male neutered domestic shorthair cat with bacterial pyothorax was referred to a tertiary hospital for treatment of sepsis. He met criteria for multiple organ dysfunction syndrome and developed new‐onset neurological dysfunction subsequent to the development of sepsis.
CC Chan, CR Sharp, CJ Boyd
wiley   +1 more source