Resultados da busca - Lisa Emrick

De Novo Mutations in Patients with Ataxic CP por Sonika Agarwal, Lisa Emrick

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P285: Genetic testing strategies for rare and undiagnosed neurogenetic conditions: Utilization of exome sequencing, metabolic, and panel testing por Roa Sadat, Daniel Calame, Lisa Emrick

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P031: A ketogenic diet successfully treats refractory epileptic spasms in a child with AICA-ribosiduria por Ameya Walimbe, Charul Gijavanekar, Theresa Wilson, Akshat Katyayan, Sarah Elsea, Lisa Emrick

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P363: Electrophysiological functional studies of an ATP1A3 variant in an individual with a relatively mild neurological phenotype reveal loss of function por Chetan Immanneni, Song Jiao, Daniel Calame, Lisa Emrick, Miguel Holmgren, Sho Yano

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P567: Innovations in education: Empowering child neurology residents with basic concepts in genomic testing through a national curriculum por Kuntal Sen, Amitha Ananth, Rachel Gottlieb-Smith, Daniel Calalme, Jeffrey Strelzik, Kristin Baranano, Lisa Emrick, Julie Ziobro, Christa Habela, Margie Ream, Divakar Mithal, Andrea Gropman, Louis Dang

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P348: De novo missense variants in ZBTB47 cause a neurodevelopmental phenotype of developmental delays, seizures, and possible movement abnormalities por Scott Ward, Lindsay Burrage, Jill Rosenfeld, Carlos Bacino, Brendan Lee, William Craigen, Lisa Emrick, Kristen Fisher, Alexandrea Wadley, Chun-Hui Tsai, Paul Benke, Maria Guillen Sacoto, Kimberly Glaser, David Murdock, Luis Rohena, K.E.M. Diderich, H.T. Bruggenwirth, Kimberly Houck

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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. por Xi Luo, Jill A Rosenfeld, Shinya Yamamoto, Tamar Harel, Zhongyuan Zuo, Melissa Hall, Klaas J Wierenga, Matthew T Pastore, Dennis Bartholomew, Mauricio R Delgado, Joshua Rotenberg, Richard Alan Lewis, Lisa Emrick, Carlos A Bacino, Mohammad K Eldomery, Zeynep Coban Akdemir, Fan Xia, Yaping Yang, Seema R Lalani, Timothy Lotze, James R Lupski, Brendan Lee, Hugo J Bellen, Michael F Wangler, Members of the UDN

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P428: De novo truncating variants in ZNF865: A putative cause of a neurodevelopmental disorder por Sam Bradbrook, Gail Graham, Melissa Carter, Maria Kibaek, Martin Larsen, Christina Fagerberg, Katherine Dawson, Cheryl Meuter, Alexander Pepler, Thomas Besnard, Bertrand Isidor, Stéphane Bezieau, Benjamin Cogné, Marie Vincent, Katherine Bjorgo, Thomas Courtin, Lisa Emrick, Jill Rosenfeld, Undiagnosed Diseases Network, Julian Martinez-Agosto, Mathilde Heulin, Gilles Morin, Pauline Monin, Louis Januel, Marie-Noëlle Bonnet-Dupeyron, Mathilde Pujalte, Kim Worley, Monika Weisz-Hubshman, Patricia Dickson, Michelle Thompson, Julien Marcadier

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Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study por Emma R. Kotes, Sarah Woidill, Russell D'Aiello, Amina Khan, Jacob McCann, Mark Ramos, Francesco Gavazzi, Stephanie Keller, Keith Van Haren, Ali Fatemi, Florian Eichler, Joshua Bonkowsky, Jamie Fraser, Lisa Emrick, Omar Sherbini, Ashley Hackett, Jeilo Gauna, Dandre Amos, Jordan Goodman, Amena Smith Fine, Amanda Nagy, Seungil Lee, Nicole Page, Johanna Schmidt, Amy Pizzino, Kayla Muirhead, Mariko Bennett, Amy Waldman, Justine Shults, Laura Adang, Robert Grundmeier, Adeline Vanderver

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COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy por Micol Falabella, Sandra Lopez Calcerrada, Jana Aref, Jiaze Gao, William L. Macken, Chiara Pizzamiglio, Renata Kabiljo, Anna Lucia Francavilla, Pauline Gaignard, Antoine Pouzet, Jonathan Levy, Giulia Barcia, Jamie K. Leighton, Efstathia Chronopoulou, Germaine Pierre, Riza Köksal Özgül, Ali Dursun, Rebecca Halligan, Helen Mundy, Javeria Raza Alvi, Tipu Sultan, William James Craigen, Lisa Emrick, Jill A. Rosenfeld, Gehad Elmakkawy, JiHye Kim, Joseph J. Gleeson, Aboulfazl Rad, Gabriela Oprea, Maqbool Hussain, Khalil Ur Rehman, Sadia Riaz, Robert W. Taylor, Vincent Procaccio, Maha S. Zaki, Erika Fernandez-Vizarra, Ciro Leonardo Pierri, Michael G. Hanna, Henry Houlden, Reza Maroofian, Cristina Ugalde, Jan-Willem Taanman, Robert D. S. Pitceathly

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