Results 231 to 240 of about 1,317,898 (360)

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam   +6 more
wiley   +1 more source

SBDH-Reader: a large language model-powered method for extracting social and behavioral determinants of health from clinical notes. [PDF]

open access: yesJ Am Med Inform Assoc
Gu Z   +16 more
europepmc   +1 more source

CSF Levels of NPTX2 Are Associated With Less Brain Atrophy Over Time in Cognitively Unimpaired Individuals

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Neuronal pentraxin 2 (NPTX2) is a synaptic protein involved in synaptic plasticity and regulation of neuronal excitability. Lower baseline cerebrospinal fluid (CSF) NPTX2 levels have been shown to be associated with an earlier onset of mild cognitive impairment (MCI), a pre‐dementia syndrome, even after CSF Alzheimer's Disease (AD)
Juan P. Vazquez   +12 more
wiley   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando   +13 more
wiley   +1 more source

Screening for Social Determinants of Health in Patients With Systemic Lupus Erythematosus: A Point‐of‐Care Feasibility Study

open access: yesArthritis Care &Research, EarlyView.
Objective Social determinants of health (SDoH) can impact outcomes but are not routinely screened for in US outpatient rheumatology clinics. This study determined the feasibility of routine point‐of‐care SDoH screening among patients with systemic lupus erythematosus (SLE) and associated barriers and facilitators at the physician, care team, and ...
S. Sam Lim   +11 more
wiley   +1 more source

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