Results 271 to 280 of about 1,625,987 (302)

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu   +5 more
wiley   +1 more source

Plasma p‐tau181 as a Marker of Conversion to Alzheimer's Disease Dementia and Worsening in Cognitive Functions in Subjective Cognitive Decline and Mild Cognitive Impairment: A Longitudinal Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Plasma p‐tau181 has proven to be a promising diagnostic and prognostic tool in the earliest phases of Alzheimer's disease (AD). We aimed to evaluate the prognostic role of p‐tau181 in predicting conversion to AD dementia and worsening in cognition in mild cognitive impairment (MCI) and subjective cognitive decline (SCD).
Giulia Giacomucci   +12 more
wiley   +1 more source

Xuetongsu attenuates bone destruction in rheumatoid arthritis by suppressing RANKL/RANK/NFATc1 pathway to inhibit osteoclastogenesis and bone resorption. [PDF]

open access: yesBone Joint Res
Zheng H   +11 more
europepmc   +1 more source

TET1 modulates trophoblast function by regulation of ODC1 in preeclampsia. [PDF]

open access: yesSci Rep
Fan C   +7 more
europepmc   +1 more source

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