Results 181 to 190 of about 36,538 (290)

Strategies for optimization of hypoglycemia rat models

Animal Models and Experimental Medicine, EarlyView.
This review focuses on rat models for studying the short‐term and long‐term effects of mild and severe hypoglycemia. We explored the physiological mechanisms to understand the consequences of hypoglycemia in rat experimental models. This study sheds light on uncovering the therapeutic potential for hypoglycemic patients and its efficacy in mitigating ...
Lee Yeong Zher, Eason Kong Qi Zheng, Rayneshia Elaura Raymond, Ye Zhen Jie, Christina Gertrude Yap   +4 more
wiley   +1 more source

Genetics of progressive multifocal leukoencephalopathy: update on case reports with an inborn error of immunity and risk variants found in drug-linked cases. [PDF]

Front Neurol
Eis PS, Smith EB, Jalilzadeh S, Hatchwell E.   +3 more
europepmc   +1 more source

Multiple low dose streptozotocin‐induced diabetes as a model for studying autoimmune diabetes in humans

Animal Models and Experimental Medicine, EarlyView.
Multiple low dose streptozotocin‐induced diabetes is a valuable animal model of diabetes type 1. It should be improved by further research on autoantigens, microbiota and mucosal immune cells from the gut, but also from other organs. Abstract The autoimmune response directed against pancreatic β cells is the most essential pathogenic process in type 1 ...
Ivan Koprivica, Suzana Stanisavljević, Dragica Mićanović, Ivana Stojanović, Đorđe Miljković   +4 more
wiley   +1 more source

Clinical, immunological, and genetic landscape of common variable immunodeficiency in Morocco: a nationwide multicenter study. [PDF]

Front Immunol
Allaoui A, Moundir A, Benhsaien I, Ailal F, Bakkouri JE, Echchilali K, Naitlho A, Kabli HE, Bousfiha AA, Moudatir M.   +9 more
europepmc   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology, EarlyView.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual, Mathieu Anheim, Giulia Barcia, Tanya Bardakjian, Franciska Baur, Steffen Berweck, Bigna K. Bölsterli, Melanie Brugger, Thomas Cassini, Nicolas Chatron, Brian Corner, Hormos Salimi Dafsari, Jean‐Madeleine de Sainte Agathe, Colin A. Ellis, Kimberly M. Ezell, Cendrine Foucard, Steven J. Frucht, Maria C. Garcia, Deepak Gill, Anne Guimier, Rizwan Hamid, Damià Heine‐Suñer, Peter Herkenrath, Marie Hully, Ioannis U. Isaias, Louis Januel, Chloe Laurencin, Taylor Laut, Alinoe Lavillaureix, Gaetan Lesca, Marion Lesieur‐Sebellin, Luca Magistrelli, Cecilia Marelli, Heather C. Mefford, Bryce A. Mendelsohn, Saadet Mercimek‐Andrews, Claire Miller, Shekeeb S. Mohammad, Francesca Morgante, Sirisha Nandipati, Thomas Opladen, Mahesh Padmanaban, Micaela Pauni, Gianni Pezzoli, Amelie Piton, Francis Ramond, Giulietta M. Riboldi, Christelle Rougeot‐Jung, Fernando Santos‐Simarro, Ingrid E. Scheffer, Naoual Serari, Christine M. Stahl, Ann Stembridge Kung, Susana Tarongí Sanchez, Christel Thauvin‐Robinet, Marianne Till, Christine Tranchant, Christopher Troedson, Thomas F. Tropea, Olivier Vanakker, Patricia Vega, Maxi Leona Wiese, Udo Wieshmann, Laura J. Williams, Thomas Wirth, Michael Zech, Hans Zempel, Emmanuel Roze, Vincenzo Leuzzi, Serena Galosi, Victor S. C. Fung, Gemma Carvill, Dimitri Krainc, Elizabeth Gerard, Niccolò E. Mencacci   +79 more
wiley   +1 more source

Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism. [PDF]

JIMD Rep
Selvanathan A, Nazir S, van Wyk K, Simpson E, Holmes V, Hutton R, White F, Schwahn BC.   +7 more
europepmc   +1 more source

Cerebrospinal Fluid Metabolome in Central Nervous System Infections: A Study of Diagnostic Accuracy

Annals of Neurology, EarlyView.
Objective To assess the diagnostic accuracy of metabolites in cerebrospinal fluid (CSF) for central nervous system (CNS) infections. Methods Patients were derived from three prospective cohort studies in the Netherlands. All studies included adults suspected of a CNS infection who underwent a diagnostic lumbar puncture.
Steven L. Staal, Sabine E. Olie, Michel van Weeghel, Bauke V. Schomakers, Frédéric M. Vaz, I‐PACE Study Group, Diederik van de Beek, Matthijs C. Brouwer   +7 more
wiley   +1 more source

Are inborn errors of immunity being investigated in the pediatric intensive care unit? [PDF]

J Pediatr (Rio J)
de Brito CCM, Bezerra PGM, Lyra PT, de Mello MJG.   +3 more
europepmc   +1 more source

The Chemistry and Biology of the Tetrodotoxin Natural Product Family

Angewandte Chemie International Edition, EarlyView.
Tetrodotoxin is best known as the poison of the pufferfish, which is a delicacy in Japanese cuisine. Its toxicity arises from the selective blockage of NaV channels, which is depicted for the NaV1.7 pore, highlighting the DEKA motif, which permeates sodium ions.
Benedikt Nißl, Marcel Mülbaier, Francesca Grisoni, Dirk Trauner, Marcel Bermúdez, Clemens Dialer, David B. Konrad   +6 more
wiley   +1 more source