Results 41 to 50 of about 381,364 (391)
Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023 Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler +21 more
wiley +1 more source
Review on the epidemiology and dynamics of BSE epidemics [PDF]
, 2008 The paper describes how the comprehensive surveillance of bovine spongiform encephalopathy (BSE) and studies carried out on these data has enhanced our knowledge of the epidemiology of BSE.
Arnold, M. +4 more
core +2 more sources
Brain dysfunction in COVID‐19 and CAR‐T therapy: cytokine storm‐associated encephalopathy
Annals of Clinical and Translational Neurology, 2021 Many neurological manifestations are associated with COVID‐19, including a distinct form of encephalopathy related to cytokine storm, the acute systemic inflammatory syndrome present in a subgroup of COVID‐19 patients.
Umberto Pensato +7 more
semanticscholar +1 more source
Safety and Health at Work, 2012 This article schematically reviews the clinical features, diagnostic approaches to, and toxicological implications of toxic encephalopathy. The review will focus on the most significant occupational causes of toxic encephalopathy. Chronic toxic encephalopathy, cerebellar syndrome, parkinsonism, and vascular encephalopathy are commonly encountered ...
Yangho Kim, Jae Woo Kim
openaire +3 more sources
Scientific Reports, 2023 There are currently two main treatment strategies mainly for high-risk patients: percutaneous transluminal angioplasty and stenting (PTAS) and aggressive medical management (AMM). However, the choice between PTAS or AMM remains controversial for patients
Zhiyu Lai +5 more
doaj +1 more source
Frontiers in Molecular Neuroscience, 2021 Depression is a common mental disorder that presents a considerable challenge for public health. The natural product geniposide has neuroprotective effects on depression, but the underlying mechanism behind these effects had remained undefined.
Tianyu Zou +5 more
doaj +1 more source
Ammonia : this is not the end but rather the end of the beginning [PDF]
, 2018 Hepatic encephalopathy (HE) represents a wide spectrum of neurological or neuropsychological symptoms caused by liver disease and/or portosystemic shunts.
Dam, Gitte +2 more
core +1 more source
Hemorrhagic Posterior Reversible Encephalopathy Syndrome as a Manifestation of COVID-19 Infection
American Journal of Neuroradiology, 2020 SUMMARY: We describe 2 hospitalized patients with confirmed coronavirus 19 (COVID-19) infection in whom brain imaging showed hemorrhagic posterior reversible encephalopathy syndrome, and we discuss the possible reasons for these findings and their ...
A. Franceschi +3 more
semanticscholar +1 more source
Clinical overview on RASopathies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022 Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley +1 more source
Journal of Integrative Neuroscience, 2023 Background: Alzheimer’s disease (AD) is a chronic neurodegenerative brain disorder currently without satisfactory therapeutic treatments. Triggering receptors expressed on a myeloid cells-2 (Trem2) gene mutation has been reported as a powerful AD risk ...
Gongcan Chen +13 more
doaj +1 more source