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
An implementation of normal distribution based segmentation and entropy controlled features selection for skin lesion detection and classification. [PDF]
BMC Cancer, 2018 Khan MA +7 more
europepmc +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
The normal distribution of corneal eccentricity and its determinants in two rural areas of north and south of Iran. [PDF]
J Curr Ophthalmol, 2018 Heydarian S +6 more
europepmc +1 more source
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
Priority of a Hesitant Fuzzy Linguistic Preference Relation with a Normal Distribution in Meteorological Disaster Risk Assessment. [PDF]
Int J Environ Res Public Health, 2017 Wang L, Gong Z.
europepmc +1 more source
Functional Connectivity Linked to Cognitive Recovery After Minor Stroke
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Patients with minor stroke exhibit slowed processing speed and generalized alterations in functional connectivity involving frontoparietal cortex (FPC). The pattern of connectivity evolves over time. In this study, we examine the relationship of functional connectivity patterns to cognitive performance, to determine ...
Vrishab Commuri +7 more
wiley +1 more source
Sample size determination for logistic regression on a logit-normal distribution. [PDF]
Stat Methods Med Res, 2017 Kim S, Heath E, Heilbrun L.
europepmc +1 more source
Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease
Annals 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
Correction: A Novel Generalized Normal Distribution for Human Longevity and other Negatively Skewed Data. [PDF]
PLoS One, 2016 Robertson HT, Allison DB.
europepmc +1 more source