المؤلفون: Lerario, Mackenzie P., Rosendale, Nicole, Waugh, Jeff L., Turban, Jack, Maschi, Tina

المصدر: In Neurologic Clinics November 2023 41(4):759-781

المؤلفون: Wilkinson-Smith, Alison^Aff6, Waugh, Jeff L.^Aff7

المساهمون: Tarsy, Daniel, Series Editor^Aff1, LaFaver, Kathrin, editor^Aff2, Maurer, Carine W., editor^Aff3, Nicholson, Timothy R., editor^Aff4, Perez, David L., editor^Aff5

المصدر: Functional Movement Disorder : An Interdisciplinary Case-Based Approach. :183-195

المؤلفون: Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Pérez‐Palma, Eduardo, Axeen, Erika Takle, Hung, Christina Y, Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C, High, Frances A, Sweetser, David A, Network, Undiagnosed Diseases, Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E, Yang, Edward, Waugh, Jeff L, Lal, Dennis, Bodamer, Olaf, Poduri, Annapurna

المصدر: Epilepsia. 60(3)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Genetics, Epilepsy, Neurodegenerative, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Case-Control Studies, Child, Child, Preschool, Female, GTP-Binding Protein alpha Subunits, Gi-Go, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, Humans, Male, Neurodevelopmental Disorders, Young Adult, developmental and epileptic encephalopathy, GNAO1, mosaicism, movement disorders, Undiagnosed Diseases Network, GNAO1, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5mv7d47m

المؤلفون: Küry, Sébastien, van Woerden, Geeske M, Besnard, Thomas, Onori, Martina Proietti, Latypova, Xénia, Towne, Meghan C, Cho, Megan T, Prescott, Trine E, Ploeg, Melissa A, Sanders, Stephan, Stessman, Holly AF, Pujol, Aurora, Distel, Ben, Robak, Laurie A, Bernstein, Jonathan A, Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A, Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje WM, Waugh, Jeff L, Deardorff, Matthew, Hoganson, George E, Bosanko, Katherine B, Johnson, Diana S, Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J, Terhal, Paulien A, Grange, Dorothy K, van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J, Douglas, Jessica, Santani, Avni B, Nesbitt, Addie I, Helbig, Katherine L, Andrews, Marisa V, Begtrup, Amber, Tang, Sha, van Gassen, Koen LI, Juusola, Jane, Foss, Kimberly, Enns, Gregory M, Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H, Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B, Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia AL, Hahn, Sihoun, Brownstein, Catherine A, Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R, Thies, Jenny, Peart-Vissers, Lisenka ELM, Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M, Dubourg, Christèle, Network, Undiagnosed Diseases, Tan, Wen-Hann, Verbeek, Nienke E, Granzow, Martin, Santen, Gijs WE, Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W, Kleefstra, Tjitske, Cogné, Benjamin, HUGO, GEM, Study, Deciphering Developmental Disorders, Petrovski, Slavé, Retterer, Kyle

المصدر: American Journal of Human Genetics. 101(5)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Neurosciences, Brain Disorders, Genetics, Intellectual and Developmental Disabilities (IDD), Pediatric, Underpinning research, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Brain, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Cell Line, Exome, Female, Glutamic Acid, HEK293 Cells, Humans, Intellectual Disability, Male, Mice, Mice, Inbred C57BL, Mutation, Neurons, Phosphorylation, Signal Transduction, Undiagnosed Diseases Network, GEM HUGO, Deciphering Developmental Disorders Study, AMPAR, CAMK2, CAMK2A, CAMK2B, NMDAR, de novo mutations, intellectual disability, synaptic plasticity, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9gc6k2mk

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المؤلفون: Jin, Sheng Chih^{Aff1, Aff2, Aff3}, Lewis, Sara A.^{Aff4, Aff5}, Bakhtiari, Somayeh^{Aff4, Aff5}, Zeng, Xue^{Aff1, Aff2}, Sierant, Michael C.^{Aff1, Aff2}, Shetty, Sheetal^{Aff4, Aff5}, Nordlie, Sandra M.^{Aff4, Aff5}, Elie, Aureliane^{Aff4, Aff5}, Corbett, Mark A., Norton, Bethany Y.^{Aff4, Aff5}, van Eyk, Clare L., Haider, Shozeb, Guida, Brandon S.^{Aff4, Aff5}, Magee, Helen^{Aff4, Aff5}, Liu, James^{Aff4, Aff5}, Pastore, Stephen, Vincent, John B., Brunstrom-Hernandez, Janice, Papavasileiou, Antigone, Fahey, Michael C., Berry, Jesia G., Harper, Kelly, Zhou, Chongchen, Zhang, Junhui, Li, Boyang, Zhao, Hongyu, Heim, Jennifer, Webber, Dani L., Frank, Mahalia S. B., Xia, Lei, Xu, Yiran, Zhu, Dengna, Zhang, Bohao, Sheth, Amar H., Knight, James R., Castaldi, Christopher, Tikhonova, Irina R., López-Giráldez, Francesc, Keren, Boris, Whalen, Sandra, Buratti, Julien, Doummar, Diane, Cho, Megan, Retterer, Kyle, Millan, Francisca, Wang, Yangong, Waugh, Jeff L., Rodan, Lance, Cohen, Julie S., Fatemi, Ali, Lin, Angela E., Phillips, John P., Feyma, Timothy, MacLennan, Suzanna C., Vaughan, Spencer, Crompton, Kylie E., Reid, Susan M., Reddihough, Dinah S., Shang, Qing, Gao, Chao, Novak, Iona, Badawi, Nadia, Wilson, Yana A., McIntyre, Sarah J., Mane, Shrikant M., Wang, Xiaoyang^{Aff14, Aff32}, Amor, David J., Zarnescu, Daniela C., Lu, Qiongshi, Xing, Qinghe, Zhu, Changlian^{Aff14, Aff32}, Bilguvar, Kaya^{Aff1, Aff15}, Padilla-Lopez, Sergio^{Aff4, Aff5}, Lifton, Richard P.^{Aff1, Aff2}, Gecz, Jozef, MacLennan, Alastair H., Kruer, Michael C.^{Aff4, Aff5, IDs4158802006951_cor77}

المصدر: Nature Genetics. 52(10):1046-1056

المؤلفون: Kahlon, Simran, Barton, Christopher R., Libdeh, Amal Abu, O'Malley, Jennifer A., Pearson, Toni, Waugh, Jeff L., Wu, Steve W., Zea Vera, Alonso G., Kruer, Michael C.

المصدر: Neurology; 1/23/2024, Vol. 102 Issue 2, p1-7, 7p

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المؤلفون: Stredny, Coral M., Waugh, Jeff L.

المصدر: In Seminars in Pediatric Neurology April 2018 25:92-112