Results 111 to 120 of about 1,436,145 (318)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
Multi‐Omics Integration for Advancing Glioma Precision Medicine
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Gliomas are among the most malignant and aggressive tumors of the central nervous system, characterized by the absence of early diagnostic markers, poor prognosis, and a lack of effective treatments. Advances in high‐throughput technologies have facilitated a refined molecular classification of gliomas, incorporating genetic features. However,
Maria Guarnaccia +4 more
wiley +1 more source
Drug inhibition of whole blood aspirin esterase. [PDF]
, 1980 HJ Rylance, RC Wallace
openalex +1 more source
Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
Annals 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
P4819Rapid determination of the anticoagulant effects of dabigatran in whole blood using ROTEM and a thrombin-based trigger [PDF]
, 2018 Viktor Taune +6 more
openalex +1 more source
The McCance Brain Care Score and Mortality: Evidence From a Large‐Scale Population‐Based Cohort
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives This study aimed to examine the relationship between the McCance Brain Care Score (BCS) and mortality in the general population. Methods We conducted a prospective, population‐based cohort study using data from the UK Biobank. Participants with complete data enabling calculation of BCS and full mortality information were included ...
Zhiqiang Xu, Xiaoxiao Wang, Nan Li
wiley +1 more source
Whole Blood Superoxide as a Biomarker for Pulmonary Hypertension Severity [PDF]
, 2020 Rose K. Davidson +4 more
openalex +1 more source
Association of Corticospinal Tract Asymmetry With Ambulatory Ability After Intracerebral Hemorrhage
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Ambulatory ability after intracerebral hemorrhage (ICH) is important to patients. We tested whether asymmetry between ipsi‐ and contra‐lesional corticospinal tracts (CSTs) assessed by diffusion tensor imaging (DTI) is associated with post‐ICH ambulation.
Yasmin N. Aziz +25 more
wiley +1 more source