Results 251 to 260 of about 199,597 (317)

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +1 more source

Corrigendum to “Associations of Tissue Tumor Mutational Burden and Mutational Status With Clinical Outcomes With Pembrolizumab Plus Chemotherapy Versus Chemotherapy For Metastatic NSCLC [JTO Clinical and Research Reports Vol. 4 No. 1: 100431]

Marina Chiara Garassino, Shirish M. Gadgeel, Silvia Novello, Balázs Halmos, Enriqueta Felip, Giovanna Speranza, Rina Hui, E.B. Garon, Hidehito Horinouchi, Shunichi Sugawara, Delvys Rodríguez‐Abreu, Martin Reck, Răzvan Cristescu, Deepti Aurora-Garg, Andrey Loboda, Jared Lunceford, Julie Kobie, Mark D. Ayers, Bilal Piperdi, M. Catherine Pietanza, Luis Paz‐Ares   +20 more
openalex   +1 more source

Interplay between tumor mutation burden and the tumor microenvironment predicts the prognosis of pan-cancer anti-PD-1/PD-L1 therapy. [PDF]

Front Immunol
Liao W, Zhou X, Lin H, Feng Z, Chen X, Chen Y, Chen M, Lin M, Yao G, Chen J, Feng H, Wang Y, Tan Z, Tan Y, Lu J, Li P, Wei J, Luo L, Fu L.   +18 more
europepmc   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Prolonged Benzo[b]fluoranthene Exposure Increases Tissue-Specific Mutational Burden, Expansion of Mutant Cells, and Mutagenic Potency

David M. Schuster, Danielle LeBlanc, Gu Zhou, Matthew J. Meier, Annette Dodge, Paul A. White, Andreas Zeller, Andrew Williams, David C. Eickmeyer, Sabrina Kehm, Juergen Funk, Francesco Marchetti, Carole L. Yauk   +12 more
openalex   +1 more source

Modeling aging and retinal degeneration with mitochondrial DNA mutation burden. [PDF]

Aging Cell
Sturgis J, Singh R, Caron QR, Samuels IS, Shiju TM, Mukkara A, Freedman P, Bonilha VL.   +7 more
europepmc   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Correlation analysis of mitochondrial DNA maintenance-related genes with HCC prognosis, tumor mutation burden and tumor microenvironment features. [PDF]

PLoS One
Rong F, Cheng B, Guo L, Zeng S, Xu X, Meng Z.   +5 more
europepmc   +1 more source

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

Elevated Tumor Mutation Burden in Cancer Patients with Underlying HIV Infection: Data from the Oncology Research Information Exchange Network (ORIEN). [PDF]

Cancer Epidemiol Biomarkers Prev
Coghill AE, Van Bibber N, Baiocchi RA, Arnold SM, Riedlinger G, Schneider BP, Zhang Y, Suneja G, Gomez Fontela M, Abate-Daga D, Teer JK.   +10 more
europepmc   +1 more source