Results 111 to 120 of about 3,397 (218)

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

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +1 more source

U-Pb dating of volcaniclastic deposits from the Sinj Basin: implications for provenance and the tectono-sedimentary evolution of the External Dinarides. [PDF]

Int J Earth Sci
Šamarija R, Andrić-Tomašević N, Mandic O, Zeh A, Mužek K, Pavelić D, Schwotzer M.   +6 more
europepmc   +1 more source

Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer, Marie Obrecht, Charlotte de Maeseneire, Charlotte Damien, Chantal Depondt, Lorenzo Ferlini, Estelle Rikir, Filippo Annoni, Fabio Silvio Taccone, Nicolas Mavroudakis, Benjamin Legros, Nicolas Gaspard   +11 more
wiley   +1 more source

Hematite U-Pb dating of Snowball Earth meltwater events. [PDF]

Proc Natl Acad Sci U S A
Courtney-Davies L, Flowers RM, Siddoway CS, Tasistro-Hart A, Macdonald FA.   +4 more
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

A novel sample pre-screening methodology for accurate in situ U-Pb dating of zircon crystals. [PDF]

Heliyon
Kis A.
europepmc   +1 more source

Prodromal Lewy Body Disorder Features in REM Sleep Behavior Disorder With Biomarker‐Defined Synucleinopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Isolated rapid eye movement sleep behavior disorder (iRBD) is a prodromal state for Lewy body disorders and exhibits biological heterogeneity that may influence clinical expression and progression. We examined clinical features in individuals with iRBD and biomarker‐defined synucleinopathy.
Daniel Weintraub, Michele K. York, Roseanne Dobkin, Anuprita R. Nair, Ryan Kurth, David‐Erick Lafontant, Chelsea Caspell‐Garcia, Roy N. Alcalay, Ethan G. Brown, Lana M. Chahine, Christopher Coffey, Tatiana Foroud, Douglas Galasko, Karl Kieburtz, Kenneth Marek, Kalpana Merchant, Brit Mollenhauer, Kathleen L. Poston, Andrew Siderowf, Cristina Simonet, Tanya Simuni, Caroline M. Tanner, Thomas F. Tropea, Aleksandar Videnovic, The Parkinson's Progression Markers Initiative   +24 more
wiley   +1 more source

Late Paleozoic oxygenation of marine environments supported by dolomite U-Pb dating. [PDF]

Nat Commun
Ben-Israel M, Holder RM, Nelson LL, Smith EF, Kylander-Clark ARC, Ryb U.   +5 more
europepmc   +1 more source

In-Situ U-Pb Dating of Apatite by Hiroshima-SHRIMP: Contributions to Earth and Planetary Science. [PDF]

Mass Spectrom (Tokyo), 2012
Terada K, Sano Y.
europepmc   +1 more source