Results 131 to 140 of about 62,463 (295)
Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production
Nature Communications, 2018 Optic atrophy 1 (OPA1) is known to be important for mitochondrial fusion and structural integrity. Here, using OPA1 knockout mice, the authors show a detrimental effect on host defense capabilities against pathogen infections.
Poorya Amini +12 more
doaj +1 more source
Protective Effect of Optic Atrophy 1 on Cardiomyocyte Oxidative Stress: Roles of Mitophagy, Mitochondrial Fission, and MAPK/ERK Signaling. [PDF]
Oxid Med Cell Longev, 2021 Wang Y, Han Z, Xu Z, Zhang J.
europepmc +1 more source
MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children
Annals 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
A Case of Bilateral Optic Nerve Atrophy (Presentation Video)
, 2007 Bilateral optic atrophyA 2 1/2-year old male with bilateral optic atrophy, multi-system abnormalities, tonic-clonic seizures, spastic paresis, sensorineural hearing loss and ataxia.VA: 20/60 OD, 20/70 OS (age 5)CT; MRIBiotinidase deficiencyVitamin B ...
Thomas N. Hwang, MD; Timothy J. McCulley, MD
core
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
Introduction: Ubiquitin C-terminal hydrolase L1 (UCHL1) has been associated with a severe, complex autosomal recessive spastic paraplegia (HSP79) [1] [2] [3] [4].
Koenig, M. +15 more
core +1 more source
Journal of Ophthalmology, 2016 Purpose. To present the safety and effect of endoscopic transethmosphenoid optic canal decompression (ETOCD) for indirect traumatic optic neuropathy (ITON) patients with no-light-perception (NLP). Methods.
Bo Yu, Yingjie Ma, Yunhai Tu, Wencan Wu
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers +19 more
wiley +1 more source
A Case of Bilateral Optic Nerve Atrophy (PowerPoint)
, 2007 Bilateral optic atrophyA 2 1/2-year old male with bilateral optic atrophy, multi-system abnormalities, tonic-clonic seizures, spastic paresis, sensorineural hearing loss and ataxia.VA: 20/60 OD, 20/70 OS (age 5)CT; MRIBiotinidase deficiencyVitamin B ...
Thomas N. Hwang, MD; Timothy J. McCulley, MD
core
A Rare Clinical Portrait: Unveiling the Complexities of Foster-Kennedy Syndrome
JKS (Jurnal Kedokteran Syiah Kuala)Introduction: Foster-Kennedy Syndrome (FKS) is an uncommon neuro-ophthalmological disorder characterized by unilateral blindness linked with an intracranial tumor. Its defining features, such as unilateral optic disc atrophy and contralateral papilledema,
Putri Nabillah Mulya +2 more
doaj +1 more source