Results 121 to 130 of about 2,805,831 (274)

Expanding the Focus of Cost-Benefit Analysis for Food Safety: A Multi-Factorial Risk Prioritization Approach [PDF]

A pressing need in the area of food safety is a tool for making overall, macro judgments about which risks should be given priority for management.
Julie A. Caswell
core  

Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif, Diane Demailly, Gabriella A. Horvàth, Juan Dario Ortigoza Escobar, Nathalie Dorison, Mayté Castro Jiménez, Cécile A. Hubsch, Thomas Wirth, Gun‐Marie Hariz, Sophie Huby, Morgan Dornadic, Zohra Souei, Muhammad Mushhood Ur Rehman, Simone Hemm, Mehdi Boulaymen, Eduardo M. Moraud, Jocelyne Bloch, Xavier Vasques   +17 more
wiley   +1 more source

Prioritization and evaluation of depression candidate genes by combining multidimensional data resources.

PLoS ONE, 2011
BackgroundLarge scale and individual genetic studies have suggested numerous susceptible genes for depression in the past decade without conclusive results.
Chung-Feng Kao, Yu-Sheng Fang, Zhongming Zhao, Po-Hsiu Kuo   +3 more
doaj   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source

A Two‐Stage Plasma Biomarker Algorithm Reduces Amyloid PET Use and the p‐Tau217 Gray Zone

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐Tau217 leaves 30%–50% of patients in an indeterminate “gray zone” often requiring Aβ‐PET. We developed GRAD (Gatekeeper‐Reflex for Alzheimer's Disease), a two‐stage Aβ‐positivity prediction model to improve classification while reserving Aβ‐PET for residual uncertainty.
Harthik Parankusham, Casey Vanderlip, Colin Birkenbihl, Eashwar Krishna, Chizobam Ugboaja, Andrew E. Budson, Brandon Frank, for the Alzheimer's Disease Neuroimaging Initiative   +7 more
wiley   +1 more source

Continuous-Time Quantum Walk on Biological Network

IEEE Access
Disease gene prioritization is a computational strategy that assigns scores to genes or proteins to estimate their likelihood of being associated with a specific disease, helping reduce the cost and effort of experimental validation.
Maria Revythi, Georgia Koukiou, Vassilis Anastassopoulos   +2 more
doaj   +1 more source

Axial Function Reflects Global Severity in Inherited Ataxias: The Upright Stability Score in Ambulatory Friedreich vs. Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited ataxias are clinically diverse neurodegenerative diseases, complicating the choice of outcome measures for trials. In spinocerebellar ataxia (SCA), regulatory concerns about the Scale for the Assessment and Rating of Ataxia (SARA) caused a shift toward functional SARA (f‐SARA), contributing to pivotal trial failure.
Christian Rummey, S. H. Subramony, David R. Lynch, Louise A. Corben, Martin B. Delatycki, Jörg B. Schulz, Kathrin Reetz, Massimo Pandolfo, Matthis Synofzik, Theresa Zesiewicz, Antoine Duquette, Matthew Burns, Martin Vyhnálek, Lucie Stovickova, Sinead M. Murphy, Petya Bogdanova‐Mihaylova, Mary Kearney, Richard Walsh, Richard H. Roxburgh, Khalaf Bushara, Marie Y. Davis, Enrico S. Bertini, Gessica Vasco, Shweta Sahni, Mohammed Faruq, Achal K. Srivastava, Bart van de Warrenburg, Elisabetta Indelicato, Sylvia Boesch, Andrew Billnitzer, Tetsuo Ashizawa, Anoopum S. Gupta, Grace Yoon, Georgios Koutsis, Chrysoula Koniari, Zofia Fleszar, Christopher M. Gomez, Andrea Martinuzzi, Gabriella Paparella, Ali G. Hamedani, Puneet Opal, Rizwan S. Akhtar, Caterina Mariotti, Henry Paulson, Peter Todd, Sharan R. Srinivasan, George Wilmot, Ludger Schöls, Susan Perlman, Jeremy D. Schmahmann, Sheng‐Han Kuo, Liana S. Rosenthal, Vikram G. Shakkottai   +52 more
wiley   +1 more source

SGL-CDP: Spectral Graph Learning for Cancer Driver Prioritization

IEEE Access
Identifying cancer driver genes (CDGs) remains a fundamental challenge in cancer genomics, as effective prioritization requires integrating heterogeneous multi-omics signals while modeling the complex topology of gene–gene interaction networks ...
Sa Li, Tianle Ma
doaj   +1 more source

Serostatus‐Specific Prognostic Profiles and Phenotype‐Dependent Therapeutic Windows in Autoimmune Encephalitis: A Multicenter Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background While autoimmune encephalitis (AE) outcomes vary, serostatus‐specific prognostic determinants and institutional clustering effects remain poorly characterized. We aimed to delineate the distinct prognostic architecture of AE, identifying serostatus‐specific risk factors and potential therapeutic windows.
Xiaohong Tang, Jingxian Wang, Kaixin Zhu, Zhen Zhang, Liao Wu, Wei Wang, Chang Li, Qingyun Li, Hao Li, Jinghua Chen, Zhangxu Lian, Bin Liu, Tengfei Liu, Chunmei Wen, Nuan Wang, Sen Qun, Lishun Xiao, Qingwei Lai   +17 more
wiley   +1 more source