Results 221 to 230 of about 12,077,058 (321)

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

Time-resolved photon counting Fourier-transform micro-spectroscopy enables simultaneous Raman and fluorescence lifetime imaging. [PDF]

open access: yesLight Sci Appl
Shang L   +11 more
europepmc   +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

Discrimination between <i>Mycobacterium tuberculosis</i> and <i>Mycobacterium bovis</i> using Fourier transform infrared spectroscopy. [PDF]

open access: yesOne Health
Guterres KB   +9 more
europepmc   +1 more source

Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons   +33 more
wiley   +1 more source

Towards <i>stimulando</i> time-resolved infrared spectroscopy to study intermittent light-stimulated CO<sub>2</sub> hydrogenation.

open access: yesFaraday Discuss
Brzesowsky FA   +6 more
europepmc   +1 more source

PhaseT3M: 3D imaging at 1.6 Å resolution via electron cryo-tomography with nonlinear phase retrieval. [PDF]

open access: yesNat Commun
Lee J   +7 more
europepmc   +1 more source

Dimethyl Fumarate, But Not Rituximab, Reduces Serum GFAP Levels and PIRMA in Relapsing–Remitting MS

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Serum neurofilament light chain (sNfL) and glial fibrillary acidic protein (sGFAP) levels are believed to reflect mainly acute and chronic disease processes in multiple sclerosis (MS), respectively. In this study, we investigated whether dimethyl fumarate (DMF) and rituximab (RTX) differentially affect these biomarkers.
F. Shawket   +14 more
wiley   +1 more source

A universal framework for the quantum simulation of Yang-Mills theory. [PDF]

open access: yesCommun Phys
Halimeh JC   +5 more
europepmc   +1 more source

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