Zobrazeno 1 - 10
of 77
pro vyhledávání: '"Melodie R, Winawer"'
Autor:
Nadia A, Liyanage-Don, Melodie R, Winawer, Marla J, Hamberger, Sachin, Agarwal, Alison R, Trainor, Kristal A, Quispe, Ian M, Kronish
Publikováno v:
General Hospital Psychiatry. 76:45-48
Many patients recovering from COVID-19 report persistent psychological and cognitive symptoms months after viral clearance. We examined the association of depression and COVID-induced PTSD with cognitive symptoms following COVID-19 illness.Patients t
Autor:
Carmen, Barba, Ingmar, Blumcke, Melodie R, Winawer, Till, Hartlieb, Hoon-Chul, Kang, Laura, Grisotto, Mathilde, Chipaux, Christian G, Bien, Barbora, Heřmanovská, Brenda E, Porter, Hart G W, Lidov, Valentina, Cetica, Friedrich G, Woermann, Javier A, Lopez-Rivera, Peter D, Canoll, Irina, Mader, Ludovico, D'Incerti, Sara, Baldassari, Edward, Yang, Ahmed, Gaballa, Hannes, Vogel, Barbora, Benova, Letizia, Macconi, Tilman, Polster, Gerald A, Grant, Lenka, Krsková, Hui Jin, Shin, Ara, Ko, Peter B, Crino, Pavel, Krsek, Jeong Ho, Lee, Dennis, Lal, Stéphanie, Baulac, Annapurna, Poduri, Renzo, Guerrini
Publikováno v:
Neurology
BACKGROUND AND OBJECTIVES: The SLC35A2 gene, located at chromosome Xp11.23, encodes for a uridine diphosphate–galactose transporter. We describe clinical, genetic, neuroimaging, EEG, and histopathologic findings and assess possible predictors of po
Autor:
Ruth Ottman, Melodie R. Winawer, Jo C. Phelan, Wendy K. Chung, Shawn T. Sorge, Jacquelyn Nakamura
Publikováno v:
Epilepsia
Objective This study evaluated factors influencing reproductive decision-making in families containing multiple individuals with epilepsy. Methods One hundred forty-nine adults with epilepsy and 149 adult biological relatives without epilepsy from fa
Autor:
Orrin Devinsky, Samuel F. Berkovic, Catharine Freyer, Annapurna Poduri, Eric B. Geller, Amos D. Korczyn, Heidi E. Kirsch, Nathan B. Fountain, Rosemary Burgess, Jack M. Parent, Jocelyn F. Bautista, Susannah T. Bellows, Robert C. Knowlton, David Goldstein, Dennis J. Dlugos, Heather C Mefford, Anthony G Marson, Mike Smith, Sabrina Cristofaro, Erin L. Heinzen, Bassel Abou-Khalil, Michael P. Epstein, Douglas E. Crompton, Eileen P.G. Vining, Kevin McKenna, Steven Petrou, Anu Venkat, Eric H. Kossoff, Gretchen Von Allmen, Sheryl R. Haut, Ruben Kuzniecky, Juliann M. Paolicchi, Colin A Ellis, Rani K. Singh, Simon Glynn, Daniel H. Lowenstein, Liu Lin Thio, Lynette G. Sadleir, Rebecca Loeb, Norman Delanty, Terence J. O'Brien, Paul V. Motika, Peter Widdess-Walsh, Sara Kivity, Gregory D. Cascino, Slavé Petrovski, Ruth Ottman, Micheline Gravel, Andrew S. Allen, Jerry J. Shih, Ingrid E. Scheffer, Joseph I Sirven, William O. Pickrell, Tracy A. Glauser, Judith L.Z. Weisenberg, Judith Bluvstein, Zaid Afawi, Phil Smith, Kevin F. Haas, Mark McCormack, Hadassa Goldberg-Stern, Sarah Paterson, Melodie R. Winawer, Mark I. Rees, Saul A. Mullen, Patrick Cossette, Rhys H. Thomas
Publikováno v:
Epilepsia
OBJECTIVE: Classification of epilepsy into types and subtypes is important for both clinical care and research into underlying disease mechanisms. A quantitative, data-driven approach may augment traditional electroclinical classification and shed ne
Autor:
Dale C. Hesdorffer, Ruth Ottman, Wendy K. Chung, Diana C. Garofalo, Melodie R. Winawer, Jo C. Phelan, Shawn T. Sorge
Publikováno v:
Epilepsia
Objective Studies have found that affected individuals who believe the cause of their disorder is genetic may react in various ways, including optimism for improved treatments and pessimism due to perceived permanence of the condition. This study ass
Autor:
Dale C. Hesdorffer, Sara Shostak, Ruth Ottman, Melodie R. Winawer, Jo C. Phelan, Shawn T. Sorge, Wendy K. Chung, Courtney B. Caminiti, Jeff Goldsmith
Publikováno v:
Epilepsia. 57:279-287
SummaryObjective To evaluate parents’ interest in genetic testing of their offspring in families containing multiple individuals with epilepsy. Methods Seventy-seven parents with affected offspring and 173 parents without affected offspring from fa
Autor:
Manu Hegde, Catherine A. Schevon, Alison M. Pack, Annapurna Poduri, Gerald A. Grant, Mohamad A. Mikati, Edward Yang, Werner Doyle, Patricia Dugan, Katherine M. Keever, Danielle McBrian, Peter B. Crino, Hart G.W. Lidov, David Zagzag, Senthilmurugan Ramalingam, Dinesh Rathakrishnan, Jurriaan M. Peters, Erin L. Heinzen, Sameer A. Sheth, Peter Canoll, Catherine Shain, Ann M. Bergin, Brenda E. Porter, Colin D. Malone, Andrew S. Allen, Jorge Samanamud, Joseph R. Madsen, Christopher M. LaCoursiere, Nicole G. Griffin, Guy M. McKhann, Cigdem I. Akman, Evan H. Baugh, Carrie R. Muh, Melodie R. Winawer
Publikováno v:
Annals of neurology, vol 83, iss 6
OBJECTIVE Somatic variants are a recognized cause of epilepsy-associated focal malformations of cortical development (MCD). We hypothesized that somatic variants may underlie a wider range of focal epilepsy, including nonlesional focal epilepsy (NLFE
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::150e8e295ba763aa6dc47b2c75cfef4d
https://escholarship.org/uc/item/58k5h2db
https://escholarship.org/uc/item/58k5h2db
Autor:
Andrew S Allen, Susannah T Bellows, Samuel F Berkovic, Joshua Bridgers, Rosemary Burgess, Gianpiero Cavalleri, Seo-Kyung Chung, Patrick Cossette, Norman Delanty, Dennis Dlugos, Michael P Epstein, Catharine Freyer, David B Goldstein, Erin L Heinzen, Michael S Hildebrand, Michael R Johnson, Ruben Kuzniecky, Daniel H Lowenstein, Anthony G Marson, Richard Mayeux, Caroline Mebane, Heather C Mefford, Terence J O'Brien, Ruth Ottman, Steven Petrou, Slavgé Petrovski, William O Pickrell, Annapurna Poduri, Rodney A Radtke, Mark I Rees, Brigid M Regan, Zhong Ren, Ingrid E Scheffer, Graeme J Sills, Rhys H Thomas, Quanli Wang, Bassel Abou-Khalil, Brian K Alldredge, Dina Amrom, Eva Andermann, Frederick Andermann, Jocelyn F. Bautista, Judith Bluvstein, Alex Boro, Gregory D Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Miguel Fiol, Nathan B Fountain, Jacqueline French, Daniel Friedman, Eric B Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R Haut, Jean Hayward, Sandra L Helmers, Sucheta Joshi, Andres Kanner, Heidi E Kirsch, Robert C Knowlton, Eric H Kossoff, Rachel Kuperman, Paul V Motika, Edward J Novotny, Juliann M Paolicchi, Jack M Parent, Kristen Park, Lynette G Sadleir, Renée A. Shellhaas, Elliott H Sherr, Jerry J. Shih, Shlomo Shinnar, Rani K Singh, Joseph Sirven, Michael C Smith, Joseph Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G Vining, Gretchen K Von Allmen, Judith L Weisenberg, Peter Widdess-Walsh, Melodie R Winawer
Publikováno v:
The Lancet. Neurology
Summary Background Despite progress in understanding the genetics of rare epilepsies, the more common epilepsies have proven less amenable to traditional gene-discovery analyses. We aimed to assess the contribution of ultra-rare genetic variation to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72fdd521cdd0a2e7dbb4097ff8a65438
https://eprints.gla.ac.uk/172544/1/172544.pdf
https://eprints.gla.ac.uk/172544/1/172544.pdf
Autor:
Silke Appenzeller, Rudi Balling, Nina Barisic, Stéphanie Baulac, Hande Caglayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Petia Dimova, Tania Djémié, Padhraig Gormley, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Dorota Hoffman-Zacharska, Johanna Jähn, Karl Martin Klein, Bobby Koeleman, Vladimir Komarek, Roland Krause, Gregor Kuhlenbäumer, Eric Leguern, Anna-Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Rikke S. Møller, Hiltrud Muhle, Deb Pal, Aarno Palotie, Manuela Pendziwiat, Angela Robbiano, Filip Roelens, Felix Rosenow, Kaja Selmer, Jose M. Serratosa, Sanjay Sisodiya, Ulrich Stephani, Katalin Sterbova, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Yvonne Weber, Sarah Weckhuysen, Federico Zara, Bassel Abou-Khalil, Brian K. Alldredge, Eva Andermann, Frederick Andermann, Dina Amrom, Jocelyn F. Bautista, Samuel F. Berkovic, Judith Bluvstein, Alex Boro, Gregory Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Miguel Fiol, Nathan B. Fountain, Jacqueline French, Daniel Friedman, Eric B. Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R. Haut, Jean Hayward, Sandra L. Helmers, Sucheta Joshi, Andres Kanner, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rachel Kuperman, Ruben Kuzniecky, Daniel H. Lowenstein, Shannon M. McGuire, Paul V. Motika, Edward J. Novotny, Ruth Ottman, Juliann M. Paolicchi, Jack Parent, Kristen Park, Annapurna Poduri, Lynette Sadleir, Ingrid E. Scheffer, Renée A. Shellhaas, Elliott Sherr, Jerry J. Shih, Rani Singh, Joseph Sirven, Michael C. Smith, Joe Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G. Vining, Gretchen K. Von Allmen, Judith L. Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer, Andrew S. Allen, Patrick Cossette, Norman Delanty, Evan E. Eichler, David B. Goldstein, Yujun Han, Erin L. Heinzen, Michael R. Johnson, Anthony G. Marson, Heather C. Mefford, Sahar Esmaeeli Nieh, Terence J. O’Brien, Stephen Petrou, Slavé Petrovski, Elizabeth K. Ruzzo
Publikováno v:
The American journal of human genetics
Møller, R S, EuroEPINOMICS RES Consortium, Epilepsy Phenome/Genome Project & Epi4K Consortium 2014, ' De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies ', American Journal of Human Genetics, vol. 95, no. 4, pp. 360-370 . https://doi.org/10.1016/j.ajhg.2014.08.013
Møller, R S, EuroEPINOMICS RES Consortium, Epilepsy Phenome/Genome Project & Epi4K Consortium 2014, ' De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies ', American Journal of Human Genetics, vol. 95, no. 4, pp. 360-370 . https://doi.org/10.1016/j.ajhg.2014.08.013
Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further define the genetic landscape. Through a collaboration between two c
Autor:
Janice O. Okeke, Dale C. Hesdorffer, Melodie R. Winawer, Shawn T. Sorge, Sara Shostak, Wendy K. Chung, Ruth Ottman, Jeff Goldsmith, Jo C. Phelan, Virginia Tangel
Publikováno v:
Epilepsia. 55:1705-1713
Summary Objective To examine genetic testing preferences in families containing multiple individuals with epilepsy. Methods One hundred forty-three individuals with epilepsy and 165 biologic relatives without epilepsy from families containing multipl