Results 11 to 20 of about 401,205 (416)

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

Does long‐term phenytoin have a place in Dravet syndrome?

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2036-2040, December 2022., 2022
Abstract Anti‐seizure medications that block sodium channels are generally considered contraindicated in Dravet syndrome. There is, however, considerable debate about the sodium‐channel blocker phenytoin, which is often used for status epilepticus, a frequent feature of Dravet syndrome.
George A. Zographos, Sophie J. Russ‐Hall, Ingrid E. Scheffer   +2 more
wiley   +1 more source

Brain magnetic resonance imaging predictors in anti‐N‐methyl‐D‐aspartate receptor encephalitis

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1974-1984, December 2022., 2022
Abstract Objective Brain magnetic resonance imaging (MRI) findings in anti‐N‐methyl‐D‐aspartate receptor (NMDAR) encephalitis are nonspecific and rarely have obvious associations with clinical characteristics and outcomes. This study aimed to comprehensively describe the MRI features of patients with NMDAR encephalitis, examine their associations with ...
Ying‐Ying Zhao, Bing Han, Cui‐Hong Qin, Xue‐Xiu Shi, Wen‐Jing Yun, Meng Wang, Bo Yuan, Tong‐Wen Sun, Hai‐Xu Wang   +8 more
wiley   +1 more source

COVID-19–associated Acute Hemorrhagic Necrotizing Encephalopathy: CT and MRI Features

Radiology, 2020
Since its introduction to the human population in December 2019, the coronavirus disease 2019 (COVID-19) pandemic has spread across the world with over 330,000 reported cases in 190 countries (1). While patients typically present with fever, shortness of
Neo Poyiadji, G. Shahin, D. Noujaim, Michael Stone, Suresh Patel, B. Griffith   +5 more
semanticscholar   +1 more source

Herbal medicine as adjunctive therapy with antidepressants for post-stroke depression: a systematic review and network meta-analysis of randomized controlled trials

Frontiers in Pharmacology, 2023
Background: Herbal medicine can provide adjunctive therapy for adults with post-stroke depression. This study summarizes the latest evidence regarding the harms and benefits of herbal antidepressants.Methods: The literature searched from the Cochrane ...
Jian Zhang, Jian Zhang, Shuping Ming, Xiaoming Chen, Xiaoming Chen, Teng Zhang, Teng Zhang, Hongyu Qian, Hongyu Qian, Shixiong Peng, Yanbing Ding, Yanbing Ding   +11 more
doaj   +1 more source

MTHFR A1298C gene polymorphism on stroke risk: an updated meta-analysis

Genes and Environment, 2021
Background Previous studies have shown the effect of MTHFR A1298C gene polymorphism on stroke risk. But the results of published studies remained inconclusive and controversial.
Xiaobo Dong, Jun Wang, Gesheng Wang, Jiayue Wang, Lei Wang, Yong Du   +5 more
doaj   +1 more source

Differentially expressed lncRNAs in liver tissues of TX mice with hepatolenticular degeneration

Scientific Reports, 2021
Wilson's Disease (WD), an ATP7B-mutated inherited disease that affects copper transport, is characterised by liver and nervous system manifestations. Long non-coding (ln-c) RNAs are widely involved in almost all physiological and pathological processes ...
Juan Zhang, Ying Ma, Daojun Xie, Yuancheng Bao, Wenming Yang, Han Wang, Huaizhou Jiang, Hui Han, Ting Dong   +8 more
doaj   +1 more source

Neurological Complications of Coronavirus Disease (COVID-19): Encephalopathy

Cureus, 2020
Coronavirus disease 2019 (COVID-19) is a pandemic. Neurological complications of COVID-19 have not been reported. Encephalopathy has not been described as a presenting symptom or complication of COVID-19.
A. Filatov, Pamraj Sharma, Fawzi Hindi, P. Espinosa   +3 more
semanticscholar   +1 more source

Paired associative stimulation demonstrates alterations in motor cortical synaptic plasticity in patients with hepatic encephalopathy [PDF]

Clinical Neurophysiology, Volume 132, Issue 10, October 2021, Pages 2332-2341, 2022
Objective: Hepatic encephalopathy (HE) is a potentially reversible brain dysfunction caused by liver failure. Altered synaptic plasticity is supposed to play a major role in the pathophysiology of HE. Here, we used paired associative stimulation with an inter-stimulus interval of 25 ms (PAS25), a transcranial magnetic stimulation (TMS) protocol, to ...
arxiv   +1 more source

Monoclonal Antibody Therapy in Neuromyelitis Optica Spectrum Disorders: a Meta-analysis of Randomized Control Trials

Frontiers in Pharmacology, 2021
Background: To update the efficacy and safety data of monoclonal antibodies for the treatment of neuromyelitis optica spectrum disorders (NMOSD) and explore the differences in the effect of treatment between patients seropositive and seronegative for ...
Fanxin Kong, Fanxin Kong, Jianjun Wang, Jianjun Wang, Haotao Zheng, Haotao Zheng, Haobin Cai, Haobin Cai, Jun Hua, Jun Hua, Liling Li, Liling Li   +11 more
doaj   +1 more source