Results 171 to 180 of about 4,014,888 (255)

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

Annals 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, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

Health Care Professionals' Experiences and Opinions About Generative AI and Ambient Scribes in Clinical Documentation: Protocol for a Scoping Review.

JMIR Res Protoc
Garcia Sanchez C, Kharko A, Hägglund M, Riggare S, Blease C.   +4 more
europepmc   +1 more source

Finding spatially variable ligand-receptor interactions with functional support from downstream genes. [PDF]

Nat Commun
Li S, Wang R, Liu S, Li SC.
europepmc   +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

Annals 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, Assunta Ingannato, Chiara Crucitti, Silvia Bagnoli, Elisa Marcantelli, Sonia Padiglioni, Valentina Moschini, Carmen Morinelli, Laura Falsini, Sandro Sorbi, Valentina Berti, Benedetta Nacmias, Valentina Bessi   +12 more
wiley   +1 more source

An encrypted traffic classification method based on autoencoders and convolutional neural networks. [PDF]

PLoS One
Xu S, Han J, Wang J, Bai Y.
europepmc   +1 more source

Quantity and Volume of Perivascular Spaces Are Inversely Associated With Multiple Sclerosis Relative to Cerebrovascular Disease and Migraine

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To quantify the number and volume of whole brain perivascular spaces (PVS) using a detection and segmentation algorithm in participants with multiple sclerosis (MS) and patients with disorders mimicking MS known to potentially influence PVS, such as cerebrovascular disease.
Elle M. Levit, Elizabeth A. Horwath, Daniel L. Schwartz, Lisa C. Silbert, Russell T. Shinohara, Andrew J. Solomon   +5 more
wiley   +1 more source

Altered Dynamic Functional Network Connectivity in Post‐Stroke Aphasia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Previous studies examining post‐stroke aphasia (PSA) patients via resting‐state functional magnetic resonance imaging (rs‐fMRI) have predominantly focused on static functional connectivity. In contrast, the current investigation aims to elucidate the alterations in dynamic functional network connectivity (dFNC) among PSA patients ...
Guihua Xu, Yongsheng Wu, Junyu Qu, Rui Zhu, Wenwen Xu, Jiaxiang Xin, Dawei Wang   +6 more
wiley   +1 more source

Systemic T Cell Receptor Profiling Reveals Adaptive Immune Activation and Potential Immune Signatures of Diagnosis and Brain Atrophy in Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy is increasingly associated with immune dysregulation and inflammation. The T cell receptor (TCR), a key mediator of adaptive immunity, shows repertoire alterations in various immune‐mediated diseases. The unique TCR sequence serves as a molecular barcode for T cells, and clonal expansion accompanied by reduced overall TCR ...
Yong‐Won Shin, Sang Bin Hong, Yong Woo Shin, Inpyeong Hwang, Jaeseong Oh, Jihyeon Choi, Narae Kim, Jangsup Moon, Keun‐Hwa Jung, Kyung‐Il Park, Ki‐Young Jung, Kon Chu, Sang Kun Lee   +12 more
wiley   +1 more source

Weighted quantile sum (WQS) mixed-effects model. [PDF]

MethodsX
Gennings C, Midya V, Renzetti S, DeFelice N.   +3 more
europepmc   +1 more source

Purkinje Cell Loss in Essential Tremor: Collective Data From 215 Brains Over a 21‐Year Period

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Essential tremor is a highly prevalent movement disorder. Pathological changes observed in essential tremor cerebella center around Purkinje cells and neighboring neuronal populations. Postmortem studies have variably, but not always, shown reduced Purkinje cell counts in essential tremor compared to controls.
Chloë A. Kerridge, Roberto S. Hernandez, Nora C. Hernandez, Phyllis L. Faust, Elan D. Louis   +4 more
wiley   +1 more source