Results 211 to 220 of about 8,838,748 (258)

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Manifesto, Turkey as model and a debate on ritual slaughtering - highlights of the Dutch debate first quarter 2011 / European Stability Initiative

, 2011
unknown
core   +1 more source

Real‐World Safety and Effectiveness of JAK Inhibitors in Systemic Sclerosis: A Propensity‐Matched Study From the EUSTAR Cohort

Arthritis Care &Research, EarlyView.
Objective JAK inhibitors (JAKi) have shown promising effects in early‐phase studies of systemic sclerosis (SSc). We aimed to assess the safety and explore the effectiveness of JAKi compared to conventional immunosuppressants in SSc. Methods A longitudinal retrospective study of the European Scleroderma Trials and Research Group (EUSTAR) cohort was ...
Stefano Di Donato, Marie‐Elise Truchetet, Marco Minerba, Oliver Distler, Juan José Alegre Sancho, Yolanda Braun‐Moscovici, Christina Bergmann, Petros Sfikakis, Jeska K. de Vries‐Bouwstra, Murray Baron, Silvia Bellando‐Randone, Lorenzo Dagna, Christopher P. Denton, Madelon C. Vonk, Vanessa Smith, Ivan Castellvi, Gabriela Riemekasten, Andra Balanescu, Masataka Kuwana, Maria De Santis, Kamal Solanki, Anastas Batalov, Vahan Mukuchyan, Marco Matucci‐Cerinic, Yannick Allanore, Francesco Del Galdo, Michael Hughes, EUSTAR Collaborators   +27 more
wiley   +1 more source

Elucidating ionic-electronic transport in cation-disordered rocksalt cathodes. [PDF]

Chem Sci
Wang M, Zhang Y, Jia Z, Shen H, Tang W, Chen K.   +5 more
europepmc   +1 more source

Clinical Validation of Artificial Intelligence (AI)‐based Cartilage Segmentation Predicting Knee Replacement

Arthritis Care &Research, Accepted Article.
Objective For cartilage morphology to serve as a scalable endpoint in clinical trials, analyses should be performed automatically without human interaction. To clinically validate artificial intelligence (AI)‐based analysis, we studied cartilage loss from MRI prior to knee replacement.
Felix Eckstein, David J. Hunter, C. Kent Kwoh, Wolfgang Wirth   +3 more
wiley   +1 more source

Distance-aware framework on molecular engineering of electrocatalytic interfaces. [PDF]

Chem Sci
Wang Z, Zhang X, He L, Chen Z, Ren Z.
europepmc   +1 more source

Clinical Characteristics and Concordance of Anti‐MDA5 Antibodies: A Multicenter Australian Study

Arthritis Care &Research, EarlyView.
Objective In Australia, anti‐MDA5 antibodies are exclusively tested by a line immunoblot assay (LIA). The clinical concordance of an LIA‐positive anti‐MDA5 result is unclear. We aimed to describe the clinical features and determine the clinical concordance of patients with anti‐MDA5 antibodies. Methods Electronic records of a multisite cohort (patients
Syed B. Ali, Thomas Khoo, Keeran Shivakumar, Adam Caroll, Lauren Hender, Dimitra Beroukas, Kim Griggs, Celina Jin, Theo De Malmanche, Jessica Day, Gabor Major, Vidya Limaye   +11 more
wiley   +1 more source

Uncovering smooth structures in single-cell data with neighbor embeddings guided by predictability-computability-stability. [PDF]

Patterns (N Y)
Ma R, Li X, Hu J, Yu B.
europepmc   +1 more source

Automated Hand Flexor Tendon–Thickness Measurement in Systemic Sclerosis

Arthritis Care &Research, EarlyView.
Objective Systemic sclerosis (SSc) can affect flexor tendons, contributing to hand function problems and reduced quality of life. Tendon changes are currently assessed with ultrasonography and measured manually, a time‐consuming process prone to interobserver variability.
Mark Greveling, Ties van het Erve, Yvette van de Berg, Simon Mastbergen, Julia Spierings   +4 more
wiley   +1 more source

Safe Curing Limits of Thick Composite Shells. [PDF]

Materials (Basel)
Gebart R.
europepmc   +1 more source