Results 131 to 140 of about 470,574 (313)

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

open access: yesAnnals 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

Single‐Cell Profiling of Pediatric High‐Grade Gliomas Reveals OPC‐Like Subpopulations Driving Tumorigenic Lineage Transitions

open access: yesPediatric Discovery
Pediatric high‐grade gliomas (pHGG) were first defined as a distinct entity in the 2021 fifth edition of the WHO classification of tumors of the central nervous system.
Tian Tian, Chong Huang, Lusheng Li
doaj   +1 more source

Impact of amyloid PET in the clinical care of veterans in a tertiary memory disorders clinic. [PDF]

open access: yesAlzheimers Dement (N Y), 2022
Vives-Rodriguez AL   +8 more
europepmc   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian   +8 more
wiley   +1 more source

Correlations between Persistent Olfactory and Semantic Memory Disorders after SARS-CoV-2 Infection. [PDF]

open access: yesBrain Sci, 2022
Fiorentino J   +14 more
europepmc   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs   +7 more
wiley   +1 more source

The Multiple Sclerosis Severity Allele rs10191329A and Cognitive Function: A UK Biobank Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The genome‐wide association study of Multiple Sclerosis severity linked the genetic variant rs10191329A to long‐term disability and implicated brain resilience as a determinant of outcome. We hypothesised that rs10191329A might influence cognition in other neurological diseases and healthy controls.
Ioanna Zimianiti   +5 more
wiley   +1 more source

The psychological impact on patients with memory disorders and their caregivers during COVID-19. [PDF]

open access: yesAging Clin Exp Res, 2021
Yuan S   +14 more
europepmc   +1 more source

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