Results 191 to 200 of about 253,713 (258)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals 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, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

ReFaceX: donor-driven reversible face anonymisation with detached recovery. [PDF]

Sci Rep
Muhammad D, Salman M, Shah SMH, Bendechache M.   +3 more
europepmc   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

Evaluating large language models for AI-assisted grading: a framework and case study in higher education. [PDF]

Sci Rep
Saez Y, Garcia LM, Mochon A, Isasi P.
europepmc   +1 more source

Acute Kidney Injury After Mechanical Thrombectomy for Stroke in Patients With Pre‐Existing Renal Impairment

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Acute kidney injury (AKI) is a common but often underrecognized complication in ischemic stroke patients undergoing mechanical thrombectomy, particularly among those with pre‐existing renal impairment. This study evaluated the incidence, risk factors, and clinical impact of AKI in this high‐risk population.
Michał Borończyk, Marcel Pilarek, Emilia Jaworska, Natalia Kardas, Oliwia Barnaś, Julia Woźniak, Iga Machała, Julia Węgrzynek‐Gallina, Joanna Siuda, Anna Hawrot‐Kawecka, Anetta Lasek‐Bal   +10 more
wiley   +1 more source

End-to-end multimodal structure elucidation from raw spectra combining contrastive learning and evolutionary algorithms. [PDF]

Nat Commun
Mirza A, Patiny L, Jablonka KM.
europepmc   +1 more source

White Matter Hyperintensity Burden and Short‐Interval Change Associated With Sleep Apnoea in the UK Biobank

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng, Diego Z. Carvalho, Shahid Karim, Anwar Chahal, Virend K. Somers   +4 more
wiley   +1 more source

Sigma-1 and Sigma-2 receptors exhibit divergent genome-wide Co-expression architectures in human brain despite shared subcellular localization. [PDF]

Front Pharmacol
Harbert DH.
europepmc   +1 more source

Memory and Resting‐State Connectivity in Acute Transient Global Amnesia: A Case–Control fMRI Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Transient global amnesia (TGA) is a striking model of isolated amnesia. While hippocampal lesions are well described, the network‐level mechanisms and the precise neuropsychological profile remain debated. Our objective was thus to characterize functional and neuropsychological correlates of acute TGA and their ...
Elias El Otmani, Emmanuel Barbeau, Béatrice Lemesle, Emilie Milongo‐Rigal, Sophie Fernandez, Sandrine Charpentier, Jean‐François Albucher, Nicolas Raposo, Fabrice Bonneville, Patrice Péran, Jérémie Pariente   +10 more
wiley   +1 more source