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Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy by Borislav Dejanovic, Tania Djémié, Nora Grünewald, Arvid Suls, Vanessa Kress, Florian Hetsch, Dana Craiu, Matthew Zemel, Padhraig Gormley, Dennis Lal, EuroEPINOMICS Dravet working group, Candace T Myers, Heather C Mefford, Aarno Palotie, Ingo Helbig, Jochen C Meier, Peter De Jonghe, Sarah Weckhuysen, Guenter Schwarz
Published 2015-11-01Get full text
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SUDEP risk is influenced by longevity genomics: a polygenic risk score studyResearch in context by Helena Martins, James D. Mills, Susanna Pagni, Medine I. Gulcebi, Angeliki Vakrinou, Patrick B. Moloney, Lisa M. Clayton, Ravishankara Bellampalli, Hannah Stamberger, Sarah Weckhuysen, Pasquale Striano, Federico Zara, Richard D. Bagnall, Rebekah V. Harris, Kate M. Lawrence, Lynette G. Sadleir, Douglas E. Crompton, Daniel Friedman, Juliana Laze, Ling Li, Samuel F. Berkovic, Christopher Semsarian, Ingrid E. Scheffer, Orrin Devinsky, Karoline Kuchenbaecker, Simona Balestrini, Sanjay M. Sisodiya
Published 2025-08-01Get full text
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Methylome analysis of FTLD patients with TDP-43 pathology identifies epigenetic signatures specific to pathological subtypes by Cristina T. Vicente, Tejasvi Niranjan, Elise Coopman, Júlia Faura, Sara Alidadiani, Claudia Schrauwen, Billie J. Matchett, Bavo Heeman, Marleen Van den Broeck, Wouter De Coster, Thuy Nguyen, Julie S. Lau, Saurabh Baheti, Tim de Pooter, Peter De Rijk, Mojca Strazisar, Matt Baker, Mariely DeJesus-Hernandez, NiCole A. Finch, Cyril Pottier, Marka van Blitterswijk, Yan Asmann, Melissa E. Murray, Leonard Petrucelli, Andrew King, Claire Troakes, Safa Al-Sarraj, Robert A. Rissman, Annie Hiniker, Margaret Flanagan, Bret M. Evers, Charles L. White, Carlos Cruchaga, Rudolph Castellani, Jeroen G.J. van Rooij, Merel O. Mol, Harro Seelaar, John C. van Swieten, Björn Oskarsson, Robert Ross Reichard, Aivi T. Nguyen, Keith A. Josephs, Ronald C. Petersen, Nilüfer Ertekin-Taner, Bradley F. Boeve, Neill R. Graff-Radford, Sarah Weckhuysen, Dennis W. Dickson, Rosa Rademakers
Published 2025-07-01Get full text
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