Results 151 to 160 of about 2,382 (289)

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

The implications of uncertainties on global lithium resources availability estimations. [PDF]

iScience
Zhou D, Pye S, Verrier B, Dodds P.
europepmc   +1 more source

A sharp degree bound on G ²-refinable multi-sided surfaces. [PDF]

Comput Aided Des, 2020
Karčiauskas K, Peters J.
europepmc   +1 more source

Multiple Feature Refining Network for Visual Emotion Distribution Learning

Qinfu Xu, Shaozu Yuan, Yiwei Wei, Jie Wu, Leiquan Wang, Chunlei Wu   +5 more
openalex   +2 more sources

Can distribution models help refine inventory‐based estimates of conservation priority? A case study in the Eastern Arc forests of Tanzania and Kenya [PDF]

, 2010
Philip J. Platts, Antje Ahrends, Roy E. Gereau, Colin J. McClean, Jon C. Lovett, Andrew R. Marshall, Petri Pellikka, Mark Mulligan, Eibleis Fanning, Rob Marchant   +9 more
openalex   +1 more source

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento, Daniela F. Santos, Tuane C. R. G. Vieira, Tiago F. Outeiro   +3 more
wiley   +1 more source

MAUD Rietveld Refinement Software for Neutron Diffraction Texture Studies of Single‑ and Dual‑Phase Materials. [PDF]

Integr Mater Manuf Innov, 2021
Saville AI, Creuziger A, Mitchell EB, Vogel SC, Benzing JT, Klemm-Toole J, Clarke KD, Clarke AJ.   +7 more
europepmc   +1 more source

Refining Wind Power Assessment in Essaouira, Morocco: The Comparison Study for Four Methods for Weibull Distribution Parameter Estimation [PDF]

Najoua Mrabet, Chirine Benzazah, E. Ahmed, Mohssine Chakib   +3 more
openalex   +1 more source

Understanding Further the Phenotypic Spectrum of Central Nervous System Inflammatory Demyelinating Disorders Using Unsupervised Clustering

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec, Elif Everest, Melih Tutuncu, Ugur Bilge, Sabahattin Saip, Ugur Uygunoglu, Aksel Siva   +6 more
wiley   +1 more source

SMASH Imaging: A Serial Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry Strategy for High-Resolution Imaging Facilitates Dual-Polarity and MS2 Spatial Lipidomics on a Single Tissue Section. [PDF]

Anal Chem
Uchino H, Tsugawa H, Arita M.
europepmc   +1 more source