Results 141 to 150 of about 1,674,843 (268)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann   +17 more
wiley   +1 more source

Vestibular Patient Journey: Insights From Vestibular Disorders Association (VeDA) Registry

open access: yesAnnals 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

Mobile Brain-Body Imaging and Visual Data of Theatrical Actors During Rehearsal and Performance. [PDF]

open access: yesSci Data
Hendry MF   +14 more
europepmc   +1 more source

mitoXplorer, a visual data mining platform to systematically analyze and visualize mitochondrial expression dynamics and mutations. [PDF]

open access: yesNucleic Acids Res, 2020
Yim A   +11 more
europepmc   +1 more source

Baseline Regional Cholinergic Denervation Predicts Cognitive Trajectories in Moderate Parkinson Disease

open access: yesAnnals 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

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

open access: yesAnnals 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

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