Results 251 to 260 of about 3,831,493 (359)
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
Annals of Neurology, EarlyView.Objective
Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early‐onset neurodevelopmental Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ay Lin Kho, Neil J Ingham, Karen P Steel, Preethi Sheshadri, Franciska Baur, Lea Hentrich, Birgit Gerisch, Mina Zamani, Cesar Alves, Ata Siddiqui, Haidar S Dafsari, Mehri Salari, Anthony E. Lang, Michael Harris, Alice Abdelaleem, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Gholamreza Shariati, Alireza Sedaghat, Jawaher Zeighami, Daniel Calame, Dana Marafi, Ruizhi Duan, Adrian Boehnke, Gary D. Clark, Jill A. Rosenfeld, Carrie A. Mohila, Dora Steel, Saurabh Chopra, Suvasini Sharma, Nicolai Kohlschmidt, Steffi Patzer, Afshin Saffari, Darius Ebrahimi‐Fakhari, Büşra Eser Çavdartepe, Irene J Chang, Erika Beckman, Renate Peters, Andrew Paul Fennell, Bernice Lo, Luisa Averdunk, Felix Distelmaier, Martina Baethmann, Frances Elmslie, Kairit Joost, Sheela Nampoothiri, Dhanya Yesodharan, Hanna Mandel, Amy Kimball, Antonie D. Kline, Cyril Mignot, Boris Keren, Vincent Laugel, Katrin Õunap, Kalpana Devadathan, Frederique M.C. van Berkestijn, Arpana Silwal, Saskia Koene, Sumit Verma, Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz, Gehad ElGhazali, Lauren Mattas, Mohammad Miryounesi, Farzad Hashemi‐Gorji, Shahryar Alavi, Nayereh Nouri, Mehrdad Noruzinia, Saeideh Kavousi, Arveen Kamath, Sandeep Jayawant, Russell Saneto, Nourelhoda A. Haridy, Pinar Ozkan Kart, Ali Cansu, Madeleine Joubert, Claire Beneteau, Kyra E. Stuurman, Martina Wilke, Tahsin Stefan Barakat, Homa Tajsharghi, Annarita Scardamaglia, Sadeq Vallian, Semra Hız, Ali Shoeibi, Reza Boostani, Narges Hashemi, Meisam Babaei, Norah Saleh Alsaleh, Julie Porter, Tania Attié‐Bitach, Pauline Marzin, Dorota Wicher, Jessica I. Gold, Elisabeth Schuler, Amna Kashgari, Rakan F. Alanazi, Wafaa Eyaid, Marc Engelen, Mirjam Langeveld, Burkhard Stüve, Yun Li, Gökhan Yigit, Bernd Wollnik, Mariana H.G Monje, Dimitri Krainc, Niccolò E. Mencacci, Somayeh Bakhtiari, Michael Kruer, Emanuela Argilli, Elliott Sherr, Yalda Jamshidi, Ehsan Ghayoor Karimiani, Yiu Wing Sunny Cheung, Ivan Karin, Giovanni Zifarelli, Peter Bauer, Wendy K Chung, James R. Lupski, Manju A. Kurian, Jörg Dötsch, Jürgen‐Christoph von Kleist‐Retzow, Thomas Klopstock, Matias Wagner, Calvin Yip, Andreas Roos, Rita Carsetti, Carlo Dionisi‐Vici, Mathias Gautel, Michael R Duchen, Adam Antebi, Henry Houlden, Manolis Fanto, Heinz Jungbluth +140 morewiley +1 more sourcePersisting Transglutaminase 6 Antibodies in Neurological Gluten‐Related Disorders
Annals of Neurology, EarlyView.Objective
Gluten‐related autoimmunity can cause neurological disease, although the best way to diagnose and monitor such patients is unclear. Serological testing for antibodies against transglutaminase 6 (TG6) has been proposed; however, this is not widely available in clinical practice.Iain D. Croall, Marios Hadjivassiliou, David S. Sanders, Kevin Teh, Alberto M. Biancardi, Nick Trott, Nigel Hoggard +6 morewiley +1 more sourceBuried Treasure? Overlooked and Newly Discovered Evolutionary Contributions to Human Brain Diseases
Annals of Neurology, EarlyView.Recapitulative schema of different exploratory levels of the evolutionary impact on human neurological diseases. Clinical neuroscience focuses on the mechanisms of brain function, but this approach falls short of insights into how the central nervous system (CNS) evolved, both in health and disease.Nico J. Diederich, Martin Brüne, John S. Allen, Nicole Bender, Emiliano Bruner, Jean‐Pierre Changeux, Corrado Cali, Olga Dolgova, Anne Grünewald, Geneviève Konopka, Peng Jin, Roger Lemon, Gilberto Levy, Pierre Magistretti, Markus J. Rantala, Kathleen S. Rockland, Roger Sullivan, Annie Swanepoel, Toshiki Uchihara, Katrin Amunts, Christopher G. Goetz +20 morewiley +1 more sourceFluorescent Peptide Tracers for Simultaneous Oxytocin Receptor Activation and Visualization
Angewandte Chemie International Edition, EarlyView.Illuminating the Oxytocin Receptor: Here we present the development of fluorescent peptide tracers for the simultaneous visualization and activation of the oxytocin receptor, an important G protein‐coupled receptor involved in health and disease. These tracers are powerful new tools to support various imaging and functional studies across biological ...Monika Perisic Böhm, Predrag Kalaba, Rachel S. Gormal, Maja Zupančič, Alexandra Wolf, Mia Juračić, Thomas Kremsmayr, Frédéric A. Meunier, Thierry Langer, Christian W. Gruber, Erik Keimpema, Markus Muttenthaler +11 morewiley +1 more sourceA Randomized, Double‐Blind, Placebo‐Controlled Trial of Abatacept for the Treatment of Relapsing, Nonsevere Granulomatosis With Polyangiitis
Arthritis &Rheumatology, EarlyView.Objective
To compare the efficacy of abatacept to placebo for the treatment of relapsing, nonsevere granulomatosis with polyangiitis (GPA). Methods
In this multicenter trial, eligible patients with relapsing, nonsevere GPA were randomized to receive abatacept 125 mg subcutaneously once a week or placebo, both together with prednisone 30 mg/day (or ...Carol A. Langford, Nader Khalidi, Jason Springer, Marcia Friedman, Bernhard Hellmich, Christian Pagnoux, Natasha Dehghan, Ora Gewurz‐Singer, Curry L. Koening, Yih Chang Lin, Paul A. Monach, Larry W. Moreland, Aurore Fifi‐Mah, Oliver Flossmann, Lindsy J. Forbess, Peter Lanyon, Eamonn Molloy, Ulrich Specks, Robert Spiera, Elaine Yacyshyn, Carol A. McAlear, Cristina Burroughs, Rachel B. Jones, Rennie L. Rhee, Rula Hajj‐Ali, Kenneth J. Warrington, David Cuthbertson, Jeffrey P. Krischer, David Jayne, Peter A. Merkel, for the Vasculitis Clinical Research Consortium and the European Vasculitis Society, Eric Stratton, Marcin Trojanowski, Chris Zammitti, Jessica Ziemek, Javier Ache, Marianne Bernardo, Bryan Gonzalez, Mariko Ishimori, Bonnie Paul, Mahbuba Tusty, Swamy Venuturupalli, Daniel Wallace, Michael Weisman, Debora Bork, Tiffany Clark, Sonya Crook, Kathleen Gartner, Lori Strozniak, Elizabeth Kisela, Marcia Leon, Loretta Williams, Jeff Negrey, Hannah Thome, Andrew Wiecek, Beemnet Amdemicael, Emily Bakaj, Aliza Bloostein, Annel Fernandez, Chris Hatzis, Lindsay Lally, Misbah Baqir, Cynthia Beinhorn, Shannon Daley, Sue Donlinger, Samantha Fatis, Yeoniee Kim, Matthew Koslow, Matthew J. Koster, Kathleen Mieras, Tobias Peikert, Michael Stachowitz, Gwen E. Thompson, Medius Klinik Kirchheim, Nicole Hollinger, Nina Kempiners, Hartmut Mahrhofer, Anke Reichelt de Tenorio, Bastian Walz, Banita Aggarwal, Simon Carette, Nazrana Haq, Samyukta Jagadeesh, Suneet Khurana, Judy Vendramini, Amanda Butler, Mithun Chakravorty, Paige Draper, Cattleya Godsave, Marie‐Josèphe Pradère, Megan Rutter, Alan Thomas, Rebekah Alexander, Cong‐Qiu Chu, Daniela Ghetie, Amy Jeon, Michelle Jin, Kim Phung Nguyen, Brenda Olmos, Kelly Peel, Rosy Quinn, Cailin Sibley, Mayamol Joseph, Deepa Thapa, Sandra Messier, Diane Robins, Jayamarx Jayaraman, Kam Shojania, Richard Conway, Kathy Brickell, Phil Gallagher, Alison Clifford, Sylvia Gaucher, Ainslie Hildebrand, Karen Martins, Breanne Stewart, Stephen Chaudary, Namneet Sandhu, Stephen Williams, Karen Dahlsveen, Seerapani Gopaluni, Cecilia Matara, Mark McClure, Rona Smith, Amrita Bath, Leslie Glasco, Theresa Howard, Caitlin McMillian, Na Yu, Mingcai Zhang, Ruba Kado, Emily Lewis, W. Joseph McCune, Emily Siegwald, Jennifer Sylvester, Naomi Amudala, Kathryn Doyle, Matthew MacDonald, Leah Madden, Brian Rice, Antoine Sreih, Sally Thompson, Laurie Hope, Kimberly Liang, Douglas Lienesch, Niveditha Mohan, Kelly Reckley, John Carter, Gail Lewis, Michelle Orzechowski, Martha Finco, Jennifer Godina, Jessica Gonzalez, Julieanne Hall, Nereida Ortez, Gopi Penmetsa +155 morewiley +1 more source
