Results 111 to 120 of about 29,975,358 (298)

White Matter and Perivascular Imaging Changes in Alzheimer's Disease and Cerebral Amyloid Angiopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peak‐width of skeletonized mean diffusivity (PSMD) and diffusion tensor imaging–analysis along the perivascular space (DTI‐ALPS), reflecting white matter integrity and glymphatic function, are altered in Alzheimer's disease (AD).
Debina Laishram   +3 more
wiley   +1 more source

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders

open access: yesInvestigative Opthalmology & Visual Science, 2018
Dominant optic atrophy (DOA; MIM [Mendelian Inheritance in Man] 165500), resulting in retinal ganglion cell degeneration, is mainly caused by mutations in the optic atrophy 1 (OPA1) gene, which encodes a dynamin guanosine triphosphate (GTP)ase involved in mitochondrial membrane processing.
Bocca, Cinzia   +16 more
openaire   +2 more sources

Long-term follow-up of a Tay-Sachs disease patient with cherry-red spot

open access: yesAmerican Journal of Ophthalmology Case Reports
Purpose: To describe the clinical progression and ophthalmic findings in a Japanese boy with Tay-Sachs disease at ages 5 and 8 months. Results: The patient was born at 38 weeks of gestation and developed normally until motor skill delays were identified ...
Noriko Tsutsumi   +3 more
doaj   +1 more source

An autosomal dominant optic atrophy: Kjer type [PDF]

open access: yesRevista Brasileira de Oftalmologia
We present a case of an autosomal dominant optic neuropathy, known as Kjer's disease. The condition can manifest since childhood, presenting with bilateral symmetric optic atrophy and progressive vision loss.
Flavio Mac Cord Medina   +1 more
doaj   +1 more source

Oxidization of optic atrophy 1 cysteines occurs during heart ischemia-reperfusion and amplifies cell death by oxidative stress. [PDF]

open access: yesRedox Biol, 2023
Semenzato M   +9 more
europepmc   +1 more source

Reserves, Injury Severity, and Outcomes in Traumatic Brain Injury: A CENTER‐TBI Observational Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Reserve refers to the brain's ability to maintain function after an injury and strongly relates to traumatic brain injury (TBI) outcomes. This study examined (1) whether associations between pre‐injury reserve proxies and outcomes differed across injury severity categories, and (2) whether the impact of injury severity varied across ...
Natascha Ekdahl   +6 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  

-Thalamic atrophy in infants with PVL and cerebral visual impairment

open access: yes, 2006
The aim of this retrospective study was to establish the presence and severity of cerebral visual impairment in preterm infants with PVL. We also wished to establish whether abnormalities of visual function are related to brain MRI findings and more ...
Cesarini, L   +24 more
core   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou   +6 more
wiley   +1 more source

Walsh & Hoyt: Optic Atrophy

open access: yes, 2005
Optic atrophy is not a disease. It is a nonspecific morphologic end point of disease (any disease) that causes damage to ganglion cells and axons of the optic nerve.
Alfredo A. Sadun, MD, PhD; Madhu R. Agarwal, MD
core  

Home - About - Disclaimer - Privacy