Results 91 to 100 of about 838,326 (247)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte   +13 more
wiley   +1 more source

Multi-source heterogeneous blockchain data quality assessment model for enterprise business activities.

open access: yesPLoS ONE
Blockchain-based applications are becoming more and more widespread in business operations. In view of the shortcomings of existing enterprise blockchain evaluation methods, this paper proposes a multi-source heterogeneous blockchain data quality ...
Haolin Zhang   +6 more
doaj   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky   +8 more
wiley   +1 more source

Glymphatic Dysfunction Reflects Post‐Concussion Symptoms: Changes Within 1 Month and After 3 Months

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mild traumatic brain injury (mTBI) may alter glymphatic function; however, its progression and variability remain obscure. This study examined glymphatic function following mTBI within 1 month and after 3 months post‐injury to determine whether variations in glymphatic function are associated with post‐traumatic symptom severity ...
Eunkyung Kim   +3 more
wiley   +1 more source

Intra- and inter-task reliability of spatial attention measures in healthy older adults.

open access: yesPLoS ONE, 2019
At present, there is a lack of systematic investigation into intra- and inter-task consistency effects in older adults, when investigating lateralised spatial attention.
Gesine Märker   +3 more
doaj   +1 more source

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas   +39 more
wiley   +1 more source

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman   +9 more
wiley   +1 more source

A Method for Consensus Anchor Graph Learning for Incomplete Multi-View Clustering

open access: yesIEEE Access
Multi-view clustering (MVC) is a prevalent method for integrating heterogeneous domain-specific information from diverse views. However, most MVC methods assume that all views have complete observed data, which is often unfeasible in practical ...
Seungmin Lee   +4 more
doaj   +1 more source

Unraveling the Molecular Mechanisms of Glioma Recurrence: A Study Integrating Single‐Cell and Spatial Transcriptomics

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glioma recurrence severely impacts patient prognosis, with current treatments showing limited efficacy. Traditional methods struggle to analyze recurrence mechanisms due to challenges in assessing tumor heterogeneity, spatial dynamics, and gene networks.
Lei Qiu   +10 more
wiley   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler   +20 more
wiley   +1 more source

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