Whole genome resequencing data of the Iranian cashmere goat breed. [PDF]
BMC Res NotesRezvannejad E +2 more
europepmc +1 more source
Vestibular Patient Journey: Insights From Vestibular Disorders Association (VeDA) Registry
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Vestibular symptoms impose a high burden of disability. Understanding real‐world diagnostic and treatment pathways can identify care gaps and guide interventions. We aimed to characterize symptom profiles, diagnostic trends, provider involvement, and treatment patterns in vestibular disorders.
Ali Rafati +10 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown +6 more
wiley +1 more source
Arteriovenous fistula after temporomandibular joint arthroscopy treated with precipitating hydrophobic injectable liquid: case report and literature review. [PDF]
Oral Maxillofac SurgLederman A +3 more
europepmc +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Natriuretic peptide signaling as a therapeutic target in POTS: physiological opportunities and caveats. [PDF]
Clin Auton ResJordan J, Pesta D, Moro C.
europepmc +1 more source
FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee +7 more
wiley +1 more source
Mapping strategies for reducing inequalities in adult elective surgical care in the United Kingdom: a living scoping review protocol. [PDF]
Syst RevHurndall KH +3 more
europepmc +1 more source
Preliminary document analyzing and summarizing metadata standards and issues across Europe [PDF]
, 2009 Alemu, Getaneh +3 more
core
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source