Results 131 to 140 of about 103,359 (288)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals 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

Germline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relatives. [PDF]

open access: yesEur J Hum Genet, 2021
Bennett S   +10 more
europepmc   +1 more source

Memory and Resting‐State Connectivity in Acute Transient Global Amnesia: A Case–Control fMRI Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Transient global amnesia (TGA) is a striking model of isolated amnesia. While hippocampal lesions are well described, the network‐level mechanisms and the precise neuropsychological profile remain debated. Our objective was thus to characterize functional and neuropsychological correlates of acute TGA and their ...
Elias El Otmani   +10 more
wiley   +1 more source

Personality traits in adults with attention-deficit hyperactivity disorder and their unaffected first-degree relatives

open access: yesBJPsych Open, 2016
Background Attention-deficit hyperactivity disorder (ADHD) shows clear, albeit heterogeneous, cognitive dysfunctions.
Valentino Antonio Pironti   +4 more
doaj   +1 more source

MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru   +13 more
wiley   +1 more source

Associations of Sleep and Shift Work With Osteoarthritis Risk

open access: yesArthritis Care &Research, EarlyView.
Objective Daily rhythms may be critical for maintaining homeostasis of joint tissues. We aimed to investigate the relationships among circadian clock disruption, sleep, and osteoarthritis (OA) risk in humans. Methods In the UK Biobank, a prospective 500,000–person cohort, we evaluated associations among sleep duration, sleeplessness/insomnia, and shift
Elizabeth L. Yanik   +5 more
wiley   +1 more source

Polygenic risk for obsessive-compulsive disorder (OCD) predicts brain response during working memory task in OCD, unaffected relatives, and healthy controls. [PDF]

open access: yesSci Rep, 2021
Heinzel S   +10 more
europepmc   +1 more source

Remittance Senders and Receivers: Tracking the Transnational Channels [PDF]

open access: yes, 2003
Presents findings from a series of surveys and focus groups conducted in 2003, on remittance sending and receiving from 11,000 individuals in the U.S., Mexico, El Salvador, Guatemala, Honduras and ...
Roberto Suro
core  

Risk of Retinopathy Associated with Long‐Term Use of Hydroxychloroquine in Patients with Rheumatic Diseases: A Systematic Review and Meta‐Analysis

open access: yesArthritis Care &Research, EarlyView.
Objective We aimed to estimate the prevalence and cumulative incidence of hydroxychloroquine retinopathy (HCQ‐R) and its risk factors among patients receiving long‐term HCQ with rheumatic diseases through a systematic review and meta‐analysis of observational studies that used spectral‐domain optical coherence tomography (SD‐OCT) for screening ...
Narsis Daftarian   +4 more
wiley   +1 more source

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