Results 61 to 70 of about 109,579 (253)

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Uncertainty in incinerator and landfill risk assessments [PDF]

, 2006
The aim of this thesis is the development of a framework for the systematic appraisal and communication of uncertainty in incinerator and landfill human health risk assessments. This aspiration has been in response to finding a limited and ambiguous use
Ganatsiou, Joanna
core  

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Determination of the Expanded Uncertainty – Expression of Measuring Result

, 1998
U ovom radu prikazano je određivanje proširene mjerne nesigurnosti i iskazivanje mjernog rezultata na osnovi Uputa za iskazivanje mjerne nesigurnosti koje je objavila Međunarodna organizacija za normizaciju ISO, a na temelju međunarodnog dogovora.This ...
Benčić, Dušan
core  

Technique for Evaluating the Uncertainty of Enthalpy of Water and Steam for Thermal Energy Metering Systems

, 2018
The paper presents an analysis of existing techniques for calculating the enthalpy of water (steam). Based on the analysis the techniques were defined that should be applied for computer-aided design of thermal energy metering systems.
Fedir Matiko, Halyna Matiko, Oksana Slabyk, Leonid Lesovoy   +3 more
core   +1 more source

Uncertainty associated with the use of software solutions utilizing dicom rdsr for skin dose assessment in interventional radiology and cardiology

, 2021
The purpose of this work is to provide a comprehensive analysis of uncertainties associated with the use of software solutions utilizing DICOM RDSRs for skin dose assessment in the interventional fluoroscopic environment.Three different scenarios have ...
Krajinović, Marko, Vujisić, Miloš, Ciraj-Bjelac, Olivera   +2 more
core   +1 more source

Dementia Incidence in Individuals With Parkinson's Disease in the Framingham Heart Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Limited information exists on incident dementia in individuals with Parkinson's disease (PD) in US community‐based samples. We examined cognitive statuses and PD diagnoses of 183 individuals in the Framingham Heart Study (FHS) to establish incident dementia, mortality rates, associations with sex, age at PD onset, and education level.
Joshi Dookhy, Michael Cummings, Eden Price, Yulin Liu, Santiago Gutierrez‐Gomez, Sarah O'Shea, Samuel Frank, Rhoda Au, Ashita S. Gurnani, Ting Fang Alvin Ang, Jesse Mez, Ludy C. Shih   +11 more
wiley   +1 more source

Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan, Marco Pitteri, Michael Foster, Sara Collorone, Sara Salama, Elisa Colato, Ferran Prados, Baris Kanber, Marios Yiannakas, Claudia A. M. Gandini Wheeler‐Kingshott, Indran Davagnanam, Frederik Barkhof, Declan Chard, Olga Ciccarelli, Ahmed Toosy   +14 more
wiley   +1 more source

Understanding Further the Phenotypic Spectrum of Central Nervous System Inflammatory Demyelinating Disorders Using Unsupervised Clustering

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec, Elif Everest, Melih Tutuncu, Ugur Bilge, Sabahattin Saip, Ugur Uygunoglu, Aksel Siva   +6 more
wiley   +1 more source

Bias in analytical chemistry: A review of selected procedures for incorporating uncorrected bias into the expanded uncertainty of analytical measurements and a graphical method for evaluating the concordance of reference and test procedures

, 2019
The Evaluation of measurement data - Guide to the Expression of Uncertainty in Measurement (GUM) provides the framework for evaluating measurement uncertainty.
Farrance, Ian, Frenkel, Robert, Badrick, Tony   +2 more
core   +1 more source