Results 211 to 220 of about 539,151 (294)

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

Spectral Computed Tomography Diagnosis of Inflammatory Bowel Disease with Neodymium-Hyaluronic Acid Nanoparticles. [PDF]

open access: yesBiomater Res
Zhu X   +10 more
europepmc   +1 more source

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

open access: yesAnnals 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   +14 more
wiley   +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

Ofatumumab in Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease: A Comparison With Rituximab

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the efficacy and safety of ofatumumab in patients with myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), and compare it with rituximab. Methods We conducted a single–center, observational study including 22 MOGAD patients treated with ofatumumab and 21 treated with rituximab.
Yuxin Fan   +5 more
wiley   +1 more source

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