Results 241 to 250 of about 2,536,478 (357)

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

Role of metabotropic glutamate receptors in the depression of GABA-mediated depolarization of frog primary afferent terminals

, 1997
J.C. Hackman, Alice M. Holohean, Robert A. Davidoff   +2 more
openalex   +1 more source

The FindMNDBiomarker Program: Protein Changes in Motor Neuron Disease/Amyotrophic Lateral Sclerosis Postmortem Tissue and Biofluids

Annals of Neurology, EarlyView.
Objective Biomarkers of disease pathogenesis are critically needed for amyotrophic lateral sclerosis (ALS) to facilitate diagnosis and patient stratification into appropriate therapeutic trials. Proteomic studies offer significant potential to advance this, but reproducibility across laboratories is a key component toward identifying protein changes ...
Gabrielle L. Adler, Matthew C. Kiernan, Rachel H. Tan   +2 more
wiley   +1 more source

[Orexin-A promotes motor function recovery of rats with spinal cord injury by regulating ionotropic glutamate receptors]. [PDF]

Nan Fang Yi Ke Da Xue Xue Bao
He G, Chu W, Li Y, Sheng X, Luo H, Xu A, Bian M, Zhang H, Wang M, Zheng C.   +9 more
europepmc   +1 more source

Dynamin-dependent endocytosis of ionotropic glutamate receptors

, 1999
Reed C. Carroll, Eric C. Beattie, Houhui Xia, Christian Lüscher, Yoram Altschuler, Roger A. Nicoll, Robert C. Malenka, Mark von Zastrow   +7 more
openalex   +1 more source

The Comprehensive Roadmap Toward Malaria Elimination Using Graphene and its Promising 2D Analogs

Advanced NanoBiomed Research, EarlyView.
Material based on a diversity of graphene with chemical properties of strong strength, high mobility, high transparency, good heat conductivity, biocompatibility, and chemical stability, advanced devices demonstrating antimalarial characteristics can be used for malaria treatment at different stages of malaria development from the injection of ...
Fangzhou He, George Junior, Rajashree Konar, Yuanding Huang, Ke Zhang, Lijing Ke, Meng Niu, Boon Tong Goh, Amine El Moutaouakil, Gilbert Daniel Nessim, Mohamed Belmoubarik, Weng Kung Peng   +11 more
wiley   +1 more source

Adaptive Changes in Group 2 Metabotropic Glutamate Receptors Underlie the Deficit in Recognition Memory Induced by Methamphetamine in Mice. [PDF]

eNeuro
Busceti CL, Di Menna L, Castaldi S, D'Errico G, Taddeucci A, Bruno V, Fornai F, Pittaluga A, Battaglia G, Nicoletti F.   +9 more
europepmc   +1 more source

Metabotropic glutamate receptors: From the workbench to the bedside

Neuropharmacology, 2011
F. Nicoletti, J. Bockaert, G. Collingridge, P. Conn, F. Ferraguti, D. Schoepp, J. Wroblewski, J. Pin   +7 more
semanticscholar   +1 more source

Developing HaloTag and SNAP‐Tag Chemical Inducers of Dimerization to Probe Receptor Oligomerization and Downstream Signaling

Angewandte Chemie International Edition, Accepted Article.
Controlling protein‐protein interactions is critical for dissecting signaling pathways, especially those initiated by ligand‐receptor interactions which alter receptor oligomerization and drive downstream signaling cascades. Traditional methods for driving protein‐protein complexes are using antibodies that face limitations in terms of stoichiometry ...
Johannes Broichhagen, Michael Trumpp, Blaise Gatin-Fraudet, Kjell Bruckmann, Wiktor Burdzinski, Kilian Roßmann, Joshua Levitz, Petra Knaus, Jerome Jatzlau   +8 more
wiley   +1 more source

In Silico Analysis of Glutamate Receptors in Capsicum chinense: Structure, Evolution, and Molecular Interactions. [PDF]

Plants (Basel)
León-García F, García-Laynes F, Estrada-Tapia G, Monforte-González M, Martínez-Estevez M, Echevarría-Machado I.   +5 more
europepmc   +1 more source