A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley +1 more source
Quantifying the sensitivity limit of ICG imaging in the presence of tissue autofluorescence. [PDF]
Belozerov Y, Ripoll J, Turchin I.
europepmc +1 more source
Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova +9 more
wiley +1 more source
Correction to "Local diagnostic reference levels for pediatric fluoroscopy in a Brazilian tertiary referral center: A weight-based analysis". [PDF]
europepmc +1 more source
Development and implementation of a unified curriculum in math, statistics, computing, and informatics with financial considerations for medical physics graduate programs. [PDF]
Chang J, Vaccarelli MJ.
europepmc +1 more source
ABSTRACT Objective Building on our prior Behavioral Risk Factor Surveillance System analysis identifying adults aged 18–39 as the primary driver of the national increase in self‐reported cognitive disability, we examined factors associated with this rise using 2013–2024 U.S. BRFSS data. Methods We analyzed U.S.
Adam de Havenon +9 more
wiley +1 more source
Correction to "Hybrid CNN-GCN framework for brain tumor MRI classification: A graph-based approach to smart healthcare diagnostics". [PDF]
europepmc +1 more source
Physics-guided networks for probabilistic hydrodynamic forecasting in canal systems. [PDF]
Liu W +5 more
europepmc +1 more source
ABSTRACT Objective To determine whether myelin‐sensitive quantitative MRI reveals microstructural abnormalities in normal‐appearing cortex (NACtx) in myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), indicating that conventional MRI underestimates remission residual cortical injury.
Valentina Camera +20 more
wiley +1 more source

