Results 61 to 70 of about 540,803 (317)

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

Modular Functional-Metabolic Coupling Alterations of Frontoparietal Network in Schizophrenia Patients

Frontiers in Neuroscience, 2019
Background: Brain functional dysconnectivity, as well as altered network organization, have been demonstrated to occur in schizophrenia. Brain networks are increasingly understood to exhibit modular community structures, which provides advantages in ...
Qiong Xiang, Jiale Xu, Jiale Xu, Yingchan Wang, Tianyi Chen, Jinhong Wang, Kaiming Zhuo, Xiaoyun Guo, Kristina Zeljic, Kristina Zeljic, Wenli Li, Wenli Li, Yu Sun, Zheng Wang, Yao Li, Yao Li, Dengtang Liu, Dengtang Liu   +17 more
doaj   +1 more source

Effect of the Eruption of Nishinoshima Volcano in the Summer of 2020 on Air Quality in Fukuoka and Busan

Asian Journal of Atmospheric Environment, 2023
A thick foggy weather and worst visibility in Fukuoka, Japan and Busan, South Korea occurred from the late July to early August 2020 due to the Nishinoshima volcanic eruption.
Chang-Jin Ma, Gong-Unn Kang
doaj   +1 more source

Episode 78: In Memoria Karen Dalke

, 2018
In this special episode of Knowing Animals we remember Karen Dalke. Karen sadly passed this week. Karen was a passionate animal lover and Animal Studies scholar.
Dalke, Karen, O'Sullivan, Siobhan
core   +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

Episode 59: Burger with Carol J Adams

, 2018
In this episode of Knowing Animals we are lucky to be joined by Carol J. Adams.
Adams, Carol J, O'Sullivan, Siobhan
core   +1 more source

Don’t turn your back on the symptoms of psychosis : a proof-of-principle, quasi-experimental public health trial to reduce the duration of untreated psychosis in Birmingham, UK [PDF]

, 2013
Background: Reducing the duration of untreated psychosis (DUP) is an aspiration of international guidelines for first episode psychosis; however, public health initiatives have met with mixed results.
Patterson, Paul, Freemantle, N, Lester, Helen, Birchwood, M, Nick Freemantle, Helen Lester, Lester, H, Swaran Singh, Paul Patterson, Channa, S, Patterson, P, Charlotte Connor, Channa, Sunita, Freemantle, Nick, Singh, Swaran, Max Birchwood, Singh, S, Palmer, C, Palmer, Colin, Birchwood, M. J., Birchwood, Maximillian, Singh, Swaran P., Colin Palmer, Connor, Charlotte, Sunita Channa, Connor, C   +25 more
core   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Episode 67: Zoopolis with Will Kymlicka

, 2018
In this episode of Knowing Animals I am thrilled to be joined by Professor Will Kymlicka from Queens University, Canada. We discuss the book he wrote with Sue Donaldson, ‘Zoopolis: A Political Theory of Animal Rights’.
Kymlicka, Will, O'Sullivan, Siobhan
core   +1 more source

Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants

Annals of Clinical and Translational Neurology, EarlyView.
Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants. ABSTRACT Objective Return of disease activity is expected when patients discontinue disease‐modifying therapy (DMT) for multiple sclerosis (MS). Some MS DMTs are associated with higher‐than‐expected disease activity (rebound) after discontinuation.
Ralf Gold, Krzysztof W. Selmaj, Regina Berkovich, Jeffrey A. Cohen, Giancarlo Comi, Eva K. Havrdová, James K. Sheffield, Hetal Desai, Chun‐Yen Cheng, Jon V. Riolo, Andrew Thorpe, Erik DeBoer, Bruce A. C. Cree   +12 more
wiley   +1 more source