Results 11 to 20 of about 339,240 (318)

Phenotypic continuum of NFU1‐related disorders

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian   +45 more
wiley   +1 more source

A potential biomarker of cognitive impairment: The olfactory dysfunction and its genes expression

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1884-1897, December 2022., 2022
Abstract Objective Accumulation evidence has reported that olfactory impairment may be an essential clinical marker and predictor of mild cognitive impairment or Alzheimer's disease. Method Participants were enrolled in the population‐based, prospective study in Fuxin county, Liaoning province, China between 2019 and 2021.
Jiayi Song, Jiahui Xu, Wei Yuan, Ruixue Li, Hui Guo, Hanshu Gao, Cuiying Gu, Wenjing Feng, Yanan Ma, Haiqiang Guo, Zhaoqing Sun, Liqiang Zheng   +11 more
wiley   +1 more source

Vascular endothelial‐cadherin as a marker of endothelial injury in preclinical Alzheimer disease

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1926-1940, December 2022., 2022
Abstract Objective Endothelial dysfunction is an early and prevalent pathology in Alzheimer disease (AD). We here investigate the value of vascular endothelial‐cadherin (VEC) as a cerebrospinal fluid (CSF) marker of endothelial injury in preclinical AD.
Rawan Tarawneh, Rachel S. Kasper, Jessie Sanford, Chia‐Ling Phuah, Jason Hassenstab, Carlos Cruchaga   +5 more
wiley   +1 more source

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1941-1952, December 2022., 2022
Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Michelle M. Lee, Graeme S. V. McDowell, Darryl C. De Vivo, Daniel Friedman, Samuel F. Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A. Sanchez‐Lara, Michelle Allen‐Sharpley, Jodi Warman‐Chardon, Alexander Solyom, Thierry Levade, Edward H. Schuchman, Steffany A. L. Bennett, David A. Dyment, Toni S. Pearson   +16 more
wiley   +1 more source

Cognitive dysfunction in schizophrenia [PDF]

, 2003
Til Wykes, David Castle
openaire   +4 more sources

COVID‐19 and the risk of Alzheimer's disease, amyotrophic lateral sclerosis, and multiple sclerosis

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1953-1961, December 2022., 2022
Abstract Background The coronavirus disease 2019 (COVID‐19) pandemic has had an unprecedented impact on the healthcare system, economy, and society. Studies have reported that COVID‐19 may cause various neurologic symptoms, including cognitive impairment.
Hanyu Zhang, Zengyuan Zhou
wiley   +1 more source

Salidroside attenuates HALI via IL-17A-mediated ferroptosis of alveolar epithelial cells by regulating Act1-TRAF6-p38 MAPK pathway

Cell Communication and Signaling, 2022
Plain English summary Oxygen inhalation has been widely used in the treatment of some diseases caused by hypoxia. This often leads people to mistakenly believe that oxygen inhalation is beneficial without harm.
Baoyue Guo, Zhongfu Zuo, Xingwei Di, Ying Huang, Gu Gong, Bo Xu, Lulu Wang, Xiaoyu Zhang, Zhuang Liang, Yang Hou, Xuezheng Liu, Zhansheng Hu   +11 more
doaj   +1 more source

Diagnosis and Management of Cognitive Dysfunction In Systemic Lupus Erythematosus Patients

Clinical and Research Journal in Internal Medicine, 2022
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with diverse clinical manifestations. One of the frequent manifestations of SLE is cognitive dysfunction. Cognitive dysfunction is a hidden and often undiagnosed manifestation of SLE but
Perdana Aditya Rahman, Ernes Mahardini, Cessarius Singgih Wahono, Handono Kalim   +3 more
doaj   +1 more source

Clinical associations of cognitive dysfunction in systemic lupus erythematosus

Lupus Science and Medicine, 2023
Objective Cognitive dysfunction in SLE is common, but clinical risk factors are poorly understood. This study aims to explore the associations of cognitive dysfunction in SLE with disease activity, organ damage, biomarkers and medications.Methods We ...
Rangi Kandane-Rathnayake, Eric F Morand, Vera Golder, Alberta Hoi, Sudha Raghunath, Julie C Stout, Yifat Glikmann-Johnston   +6 more
doaj   +1 more source

Scutellarin protects cortical neurons against neonatal hypoxic‐ischemic encephalopathy injury via upregulation of vascular endothelial growth factor

Ibrain, 2022
Neonatal hypoxic‐ischemic encephalopathy (NHIE) causes devastating cerebral damage and neurological deficits that seldom have effective therapies. This study aimed to explore the mechanisms underlying the therapeutic efficacy of Scutellarin in NHIE. NHIE
Yu Zou, Chang‐Le Fang, Ya‐Ting Wang, Hua Li, Xi‐Liang Guo   +4 more
doaj   +1 more source