Results 211 to 220 of about 561,016 (281)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals 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   +21 more
wiley   +1 more source

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento   +3 more
wiley   +1 more source

Editorial: Artificial intelligence and machine learning in pediatrics. [PDF]

open access: yesFront Artif Intell
Kuru K   +4 more
europepmc   +1 more source

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

open access: yesAnnals 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   +6 more
wiley   +1 more source

Editorial: Cancer biology, immunotherapy and aging. [PDF]

open access: yesFront Aging
Koda S, Weedor JG, Botolo Sakava P.
europepmc   +1 more source

Developing and Evaluating a Laboratory‐Based Frailty Index (FI‐Lab) for the Prediction of Long‐Term Health Outcomes in Systemic Lupus Erythematosus

open access: yesArthritis Care &Research, Accepted Article.
Objective We aimed to construct and evaluate the first laboratory‐based frailty index (FI‐Lab) for predicting adverse outcomes in systemic lupus erythematosus (SLE) and to compare its predictive ability to that of an existing clinical frailty index (FI).
Grace Burns   +2 more
wiley   +1 more source

A Systematic Review of Topic Modeling Techniques for Electronic Health Records. [PDF]

open access: yesHealthcare (Basel)
Mehmood I   +4 more
europepmc   +1 more source

Trajectories of Physical Function in Canadian Children with Juvenile Idiopathic Arthritis

open access: yesArthritis Care &Research, Accepted Article.
Objectives We describe trajectories of physical function in children newly diagnosed with juvenile idiopathic arthritis (JIA) and identify trajectories with persisting functional impairments and associated baseline characteristics. Methods We included patients enrolled in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry ...
Clare Cunningham   +14 more
wiley   +1 more source

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