Results 241 to 250 of about 386,927 (307)

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

Editorial: Diversity, function, and application of microbes in the fermentation or production of traditional food. [PDF]

Front Microbiol
Dong W, Chen S, Hu Y.
europepmc   +1 more source

Choroid Plexus Enlargement and USPIO‐Based Inflammatory Feature in Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The choroid plexus (CP) is a key component of the blood–cerebrospinal fluid barrier (BCSFB), but its mechanism of action in cerebral small vessel disease (CSVD) remains unclear. This study investigated CP volume (CPV) alterations and their association with conventional imaging markers in CSVD and explored the underlying role of ...
Yongqiang Qu, Xiaoning Ren, Cuihua Fan, Chun Li, Lijie Zhang, Zaiqiang Zhang, Shaowu Li, Zhongmeng Lai, Bin Cai, Ying Fu, Yi Lin, Zhibao Zhu   +11 more
wiley   +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

Robots, ledgers, and RevPAR: a blockchain-enabled AI-robotics conceptual model for sustainable hotel revenue and asset management. [PDF]

Front Robot AI
Jackson LA.
europepmc   +1 more source

Co-creating value and building resilience: a digital era framework for competitive advantage in electronics retailing. [PDF]

Sci Rep
Yang Y, Zhang X.
europepmc   +1 more source

Coproducing an Online Platform for People With Long-Term Physical Health Conditions: Development and Usability Study. [PDF]

J Med Internet Res
Jones HG, Lavelle G, Aylwin-Foster E, Carr E, Simpson A, Simpson A, Hotopf M, Lawrence V.   +7 more
europepmc   +1 more source

Co-designing animated videos to explain large language models and their use in healthcare and research. [PDF]

Front Digit Health
Remfry E, Chaturvedi J, Markham S, Ford E, Ramasawmy M.   +4 more
europepmc   +1 more source

Food labelling in India: a scoping review of consumer engagement, comprehension, and purchase behaviour. [PDF]

Glob Health Action
Pahlani M, Narendra Talati K, Lopez-Arana S, Narayanan P.   +3 more
europepmc   +1 more source