RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
The Neural Bases of Graphical Perception: A Novel Instance of Cultural Recycling? [PDF]
J Cogn NeurosciCiccione L, Dehaene S.
europepmc +1 more source
Children in graphic novels : intermedial encounters and mnemonic layers [PDF]
, 2020 Ahmed, Maaheen
core
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To evaluate the efficacy and safety of ofatumumab in patients with myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), and compare it with rituximab. Methods We conducted a single–center, observational study including 22 MOGAD patients treated with ofatumumab and 21 treated with rituximab.
Yuxin Fan +5 more
wiley +1 more source
"If I saw that, a drink with 16 teaspoons of sugar, I'd put it down": qualitative insights into Australian adolescents' reactions to front-of-pack label options for sugar-sweetened beverages. [PDF]
BMC NutrEttridge K +9 more
europepmc +1 more source
Aquaporin‐4 in Narcolepsy Type 1: Investigation of Perivascular Fluid Movement in Sleep Disorders
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Narcolepsy type 1 (NT1) is caused by the loss of hypocretin‐1 leading to excessive daytime sleepiness and cataplexy. Additionally, disrupted nighttime sleep has become an increasingly recognized feature of NT1. As the glymphatic fluid movement has been linked to sleep architecture, we investigated cerebrospinal fluid (CSF) Aquaporin‐4 (AQP4 ...
Jonas Ranke +5 more
wiley +1 more source
Examining disparities in harmful reporting on community firearm violence in Philadelphia television news reports. [PDF]
Inj EpidemiolBeard JH +9 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Isolated rapid eye movement sleep behavior disorder (iRBD) is a prodromal state for Lewy body disorders and exhibits biological heterogeneity that may influence clinical expression and progression. We examined clinical features in individuals with iRBD and biomarker‐defined synucleinopathy.
Daniel Weintraub +24 more
wiley +1 more source
Image-Processing-Driven Modeling and Reconstruction of Traditional Patterns via Dual-Channel Detection and B-Spline Analysis. [PDF]
J ImagingHe X, Chen S, Kuang Y, Yang X.
europepmc +1 more source
Arthritis Care &Research, EarlyView.Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +1 more source