Results 241 to 250 of about 2,568,825 (335)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Proof of concept of a new plasma complement Factor H from waste plasma fraction. [PDF]

Front Immunol
Mori F, Pascali G, Berra S, Lazzarotti A, Panetta D, Rocchiccioli S, Ceccherini E, Norelli F, Morlando A, Donadelli R, Clivio A, Farina C, Noris M, Salvadori PA, Remuzzi G.   +14 more
europepmc   +1 more source

Rare Variants in the Complement Factor H-Related Protein 5 Gene Contribute to Genetic Susceptibility to IgA Nephropathy.

Journal of the American Society of Nephrology, 2016
Ya-Ling Zhai, Si-jun Meng, Li Zhu, S. Shi, Su-xia Wang, Lijun Liu, J. Lv, F. Yu, Ming-hui Zhao, Hong Zhang   +9 more
semanticscholar   +1 more source

Efficacy of Intermittent Theta‐Burst Stimulation for Prolonged Disorders of Consciousness: A Prospective, Randomized, Controlled Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu, Jun Hu, Qianqian Wu, Min Wu, Yamei Yu, Hangcheng Li, Jian Gao, Jingqi Li, Nai Ding, Jie Yu, Benyan Luo   +10 more
wiley   +1 more source

Mapping the interaction sites of human and avian influenza A viruses and complement factor H. [PDF]

Front Immunol
Rabeeah I, Billington E, Nal B, Sadeyen JR, Pathan AA, Iqbal M, Temperton NJ, Zipfel PF, Skerka C, Kishore U, Shelton H.   +10 more
europepmc   +1 more source

Stealth Immune Properties of Graphene Oxide Enabled by Surface-Bound Complement Factor H.

ACS Nano, 2016
Jason N. Belling, Joshua A. Jackman, Saziye Yorulmaz Avsar, J. H. Park, Yan Wang, Michael G. Potroz, A. R. Ferhan, P. Weiss, Nam‐Joon Cho   +8 more
semanticscholar   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Complement factor H targeting antibody GT103 in refractory non-small cell lung cancer: a phase 1b dose escalation trial. [PDF]

Nat Commun
Clarke JM, Simon GR, Mamdani H, Gu L, Herndon JE, Stinchcombe TE, Ready N, Crawford J, Sonpavde G, Balevic S, Nixon AB, Campa M, Gottlin EB, Li H, Saxena R, He YW, Antonia S, Patz EF.   +17 more
europepmc   +1 more source

Complement Factor H-Related 5-Hybrid Proteins Anchor Properdin and Activate Complement at Self-Surfaces.

Journal of the American Society of Nephrology, 2016
Qiang Chen, Melanie Manzke, A. Hartmann, M. Büttner, K. Amann, D. Pauly, M. Wiesener, C. Skerka, P. Zipfel   +8 more
semanticscholar   +1 more source

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