Results 101 to 110 of about 232,677 (345)
Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis
Epilepsia, EarlyView.Abstract Objective
Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.Sarah Duerinckx, Barbara Gravel, Julie Soblet, Benjamin Legros, Susana Ferrao Santos, Wim Van Paesschen, Estelle Rikir, Epi25 Collaborative, Siwei Chen, Zaid Afawi, Quratulain Zulfiqar Ali, Danielle M. Andrade, Mutluay Arslan, Simona Balestrini, Carmen Barba, Tobias Baumgartner, Betül Baykan, Nerses Bebek, Felicitas Becker, Caitlin A. Bennett, Ahmad Beydoun, Francesca Bisulli, Christian Bosselmann, S. Hande Caglayan, Laura Canafoglia, Barbara Castellotti, Francine Chassoux, I‐Jun Chou, Seo‐Kyung Chung, Patrick Cossette, Chantal Depondt, Orrin Devinsky, Dennis J. Dlugos, Viola Doccini, Colin A. Ellis, Thomas N. Ferraro, Lorenzo Ferri, Mark Fitzgerald, Francesco Fortunato, Elena Freri, Tania Giangregorio, Tracy A. Glauser, Aslı Gundogdu‐Eken, Namrata Gupta, Kevin Haas, Erin L. Heinzen, Christian Hengsbach, Olivia Hoeper, Michele Iacomino, Yushi Inoue, Lara Jehi, Symon M. Kariuki, Karl Martin Klein, Susanne Knake, Andreas Koupparis, Ioanna Kousiappa, Roland Krause, Martin Krenn, Heinz Krestel, Wolfram S. Kunz, Austin Lacey, Stephan Lauxmann, Stephanie L. Leech, Gaetan Lesca, David Lewis‐Smith, Calwing Liao, Laura Licchetta, Kuang‐Lin Lin, Tarja Linnankivi, Daniel H. Lowenstein, Colin H.T. Lui, Ida Manna, Paula Marques, Patrick May, Davide Mei, RaAaella Minardi, Barbara Mostacci, Lorenzo Muccioli, Bernd A. Neubauer, Terence J. O'Brien, Savvas S. Papacostas, Elena Parrini, Manuela Pendziwiat, Francesca Ragona, Mark I. Rees, Antonella Riva, Philippe Ryvlin, Andrea Salmon, Ilaria Sammarra, Marcello Scala, Ingrid E. ScheAer, Susanne Schubert‐Bast, Paolo Scudieri, Graeme J. Sills, Sanjay M. Sisodiya, Hannah Stamberger, Ulrich Stephani, Carlotta Stipa, Pasquale Striano, Adam Strzelczyk, Rainer Surges, Toshimitsu Suzuki, Mariagrazia Talarico, George A. Tanteles, Marian Todaro, Meng‐Han Tsai, Birute Tumiene, Dilsad Turkdogan, Luc Valton, Andreas van Baalen, Annalisa Vetro, Yvonne G. Weber, Sarah Weckhuysen, Peter Widdess‐Walsh, Samuel Wiebe, Randi von Wrede, Kazuhiro Yamakawa, Zuhal Yapıcı, Fritz Zimprich, Milena Zizovic, Gábor Zsurka, Benjamin M. Neale, Samuel F. Berkovic, Solve‐RD DITF‐EpiCARE, Marc Abramowicz, Nicholas Allen, Simona Balestrini, Tobias Bartolomaeus, Ravishankara Bellampalli, Katherine Benson, Francesca Bisulli, Christian Boßelmann, Susan Byrne, Laura Canafoglia, Evelina Carapancea, Barbara Castellotti, Gianpiero Cavalleri, Roberta Cilio, Norman Delanty, Christel Depienne, Chantal Depondt, Sarah Duerinckx, Zakaria Eddafir, Kornelia Ellwanger, Silvana Franceschetti, Elena Freri, Hamidah Ghani, Tiziana Granata, Marie Greally, Renzo Guerrini, Tobias B. Haack, Eva Hammar Bouveret, Michele Iacomino, Rami Jamra, Josua Kegele, Christian Korff, Roland Krause, Alma Küchler, Robert Lauerer‐Braun, Damien Lederer, Elsa Leitão, Holger Lerche, Gaëtan Lesca, David Lewis‐Smith, Laura Licchetta, Frédéric Masclaux, Patrick May, Davide Mei, Cyril Mignot, Charissa Millevert, Raffaella Minardi, Patrick Moloney, Hiltrud Muhle, Mary O. Reghan, Joohyun Park, Elena Parrini, Manuela Pendziwiat, Konrad Platzner, Johanna Pohl, Mary Sandrine, Marcello Scala, Sanjay Sisodiya, Noor Smal, Hannah Stamberger, Pasquale Striano, Roxane van Heurck, Christina Vosseler‐Wolf, David Webb, Sarah Weckhuysen, Federico Zara, Alec Aeby, Guillaume Smits, Chantal Depondt +192 morewiley +1 more sourceLongitudinal Swallowing and Salivary Changes With CLR 131 and Re‐Irradiation in Recurrent Head and Neck Cancer
Head &Neck, EarlyView.ABSTRACT Background
Patients with recurrent head and neck cancer (HNC) often present with severe, persistent dysphagia and xerostomia following prior chemoradiation. Although swallowing impairments and salivary dysfunction have been reported in this population, prior longitudinal studies have not examined changes in salivary composition or how these ...Jenni Wu, Sara Gustafson, Meredith Hyun, Roxana Alexandridis, Mark Nicosia, Timothy McCulloch, Justine Bruce, Randall Kimple, Nicole Rogus‐Pulia +8 morewiley +1 more sourceThe regulation of stem cell fate and its application in neural regeneration
Interdisciplinary Medicine, EarlyView.Regulating stem cell fate is crucial for neural regeneration. This review summarizes key physical, biological, and chemical strategies and their applications in repairing nerve injuries, providing new insights for regenerative medicine. Abstract
Regulating the fate of stem cells (SCs) is a key technical problem in the field of regenerative medicine and Yuexin He, Xingyu Chen, Minghong He, Zhe Li +3 morewiley +1 more sourceOcular and systemic safety of a recombinant AAV8 vector for X-linked retinoschisis gene therapy: GLP studies in rabbits and Rs1-KO mice
Molecular Therapy: Methods & Clinical Development, 2016 X-linked retinoschisis (XLRS) is a retinal disease caused by mutations in the gene encoding the protein retinoschisin (RS1) and is one of the most common causes of macular degeneration in young men.Dario Marangoni, Ronald A Bush, Yong Zeng, Lisa L Wei, Lucia Ziccardi, Camasamudram Vijayasarathy, Joshua T Bartoe, Kiran Palyada, Maria Santos, Suja Hiriyanna, Zhijian Wu, Peter Colosi, Paul A Sieving +12 moredoaj +1 more sourcePure word deafness associated with extrapontine myelinolysis
, 2010 Extrapontine myelinolysis and pure word deafness are very uncommon disorders. Here, we report a case of a 19-year-old woman who suffered from osmotic demyelination syndrome with coincidence of typical pure word deafness.Zhu, Ren-jing, Lv, Zhi-su, Shan, Chun-lei, Luo, Ben-yan, Xu, Ming-wei +4 morecore +1 more sourceSearch for novel deafness genes by exome sequencing of autosomal recessive NSHL families
, 2011 Due to the extremely high genetic heterogeneity of non-syndromic sensorineural hearing loss (NSHL), as well as to the low frequency of most known NSHL-causing mutations, the vast majority of NSHL patients have no definitive genetic diagnosis. In addition,Y. Yin, J. Zhang, J. Wang, G.M. Soldà, X. Liu, P. Castorina, J. Liang, M. Robusto, Q. Zhang, S. Duga, H. Yang, U. Ambrosetti, P. Primignani, R. Asselta +13 morecore +2 more sources
