Results 221 to 230 of about 252,651 (269)

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

A framework for causal concept-based model explanations. [PDF]

Front Artif Intell
Bjøru AR, Lysnæs-Larsen J, Jørgensen O, Strümke I, Langseth H.   +4 more
europepmc   +1 more source

Vestibular Patient Journey: Insights From Vestibular Disorders Association (VeDA) Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Vestibular symptoms impose a high burden of disability. Understanding real‐world diagnostic and treatment pathways can identify care gaps and guide interventions. We aimed to characterize symptom profiles, diagnostic trends, provider involvement, and treatment patterns in vestibular disorders.
Ali Rafati, Sami I. Nassar, Shaun A. Nguyen, Patricia L. Gerend, Michael C. Schubert, Michael T. Teixido, Frederick A. Godley, Joel A. Goebel, Cynthia A. Ryan, Habib G. Rizk, Amir Kheradmand   +10 more
wiley   +1 more source

Generative models and synthetic data in clinical prediction models: Promoting consistency, reproducibility, and transparency. [PDF]

J Clin Transl Sci
Mangino AA, Ahmed T, Sorrell VL.
europepmc   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

A case-based explainable graph neural network framework for mechanistic drug repositioning. [PDF]

Bioinformatics
Gonzalez-Cavazos AC, Tu R, Sinha M, Su AI.   +3 more
europepmc   +1 more source

Patient-specific 3D cryo(bio)printing of a glenoid labrum scaffold for fibrocartilaginous tissue engineering. [PDF]

Front Bioeng Biotechnol
da Silva FT, de Souza CM, Stocco TD.
europepmc   +1 more source

Current use of pre-clinical models for evaluation of human adenovirus-based cancer therapeutics. [PDF]

Mol Ther Oncol
Cole DK, Khanolkar RC, Davies JA, Gerry AB.   +3 more
europepmc   +1 more source

Benchmarking Interpretability in Healthcare Using Pattern Discovery and Disentanglement. [PDF]

Bioengineering (Basel)
Zhou PY, Takeuchi A, Martinez-Lopez F, Ehghaghi M, Wong AKC, Lee EA.   +5 more
europepmc   +1 more source

Evaluating sentiment analysis models in healthcare: addressing bias and enhancing interpretability. [PDF]

Front Public Health
Wang C, Miao Z, Zeng H.
europepmc   +1 more source