Results 71 to 80 of about 354,465 (294)

Digital Cognitive Phenotyping for Differential Diagnosis and Monitoring in Neurological Conditions

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the utility, accessibility, and equivalence to supervised scales of online cognitive assessment in older individuals with cognitive impairment. Methods Patients with Alzheimer's disease (AD, n = 31), idiopathic normal pressure hydrocephalus (iNPH, n = 26), and traumatic brain injury (TBI, n = 23) completed online cognitive ...
Martina Del Giovane   +10 more
wiley   +1 more source

Dynamics Simulation of Remotely Operated Vehicle-Fiber Optic Micro Cable System [PDF]

open access: yes, 2008
Li Q, Xu H, Zhang Q, Wang X, Li ZG. Dynamics Simulation of Remotely Operated Vehicle-Fiber Optic Micro Cable System.
Li, ZhiGang   +14 more
core   +1 more source

Thalamo‐Lesional Connectivity Signatures of Bilateral Tonic–Clonic Seizures in Focal Cortical Dysplasia‐Related Epilepsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie   +8 more
wiley   +1 more source

Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29

open access: yesBMC Medical Genomics
Background Copy number variations (CNVs) have emerged as significant contributors to the elusive genetic causality of inherited eye diseases. In this study, we describe a case with optic atrophy and a brain aneurysm, in which a de novo CNV 3q29 deletion ...
Ethan Hung-Hsi Wang   +8 more
doaj   +1 more source

Optic Atrophy and Disc Morphology

open access: yes, 2022
Dr.
Andrew G. Lee, MD
core  

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Comparative Analysis of Choroid Plexus Volume Between MOG Antibody Associated Disease and Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Choroid plexus volume (CPV) has been proposed as a neuro‐immunological marker of multiple sclerosis (MS), but its relevance in myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD) remains uncertain. We analyzed CPV in 43 individuals with MOGAD, 48 with MS, and 44 healthy controls using a Bayesian Gaussian mixture modeling ...
Jae‐Won Hyun   +4 more
wiley   +1 more source

Incomplete Optic Atrophy

open access: yes, 1971
Presenting Symptom: Optic atrophy. Pathology: Optic disk pallor. Pallor of the temporal side of the disc - the hallmark of partial optic atrophy - is not always easy to differentiate from the normal appearance of the disc.
David G. Cogan, MD (1908-1993)
core  

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse   +13 more
wiley   +1 more source

Expanding the clinical phenotype of HIST1H1E syndrome: cerebellar atrophy and bilateral optic neuropathy, a case report

open access: yesFrontiers in Neurology
BackgroundHIST1H1E syndrome is caused by frameshift variants in the HIST1H1E gene; while strabismus and refractive errors have been previously reported, this is the first case describing optic and cerebellar atrophy in an affected individual to our ...
Zinnia Sen Yen Lai   +6 more
doaj   +1 more source

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