Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Hung, Christina Y"'
Autor:
Hung, Christina Y.1,2, Volkmar, Barbara3, Baker, James D.4, Bauer, Johann W.5, Gussoni, Emanuela1,2, Hainzl, Stefan5, Klausegger, Alfred5, Lorenzo, Jose6, Mihalek, Ivana1, Rittinger, Olaf3 olaf.bodamer@childrens.harvard.edu, Tekin, Mustafa6, Dallman, Julia E.4, Bodamer, Olaf A.1,2
Publikováno v:
PLoS ONE. 12/11/2017, Vol. 12 Issue 12, p1-17. 17p.
Autor:
Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Perez-Palma, Eduardo, Axeen, Erika Takle, Hung, Christina Y, Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C, High, Frances A, Sweetser, David A, Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E, Yang, Edward, Waugh, Jeff L, Lal, Dennis, Bodamer, Olaf, Poduri, Annapurna, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bellen, Hugo J, Bernstein, Jonathan A, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cogan, Joy D, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina M, Donnell-Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gre-Gory M, Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fairbrother, Laura, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Friedman, Noah D, Gahl, William A, Glanton, Emily, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gould, Sarah E, Gourdine, Jean-Philippe F, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, High, Francis, Holm, Ingrid A, Horn, Jason, Howerton, Ellen M, Huang, Yong, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M, Jones, Angela L, Karaviti, Lefkothea, Koeller, David M, Kohane, Isaac S, Kohler, Jennefer N, Konick, Susan, Koziura, Mary, Krasnewich, Donna M, Krier, Joel B, Kyle, Jennifer E, Lalani, Seema R, Lau, C Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H, Lee, Hane, Levy, Shawn E, Lewis, Richard A, Lincoln, Sharyn A, Loo, Sandra K, Loscalzo, Joseph, Maas, Richard L, Macnamara, Ellen F, MacRae, Calum A, Maduro, Valerie V, Majch-erska, Marta M, Malicdan, May Christine, Mamounas, Laura A, Manolio, Teri A, Markello, Thomas C, Marom, Ronit, Martin, Martin G, Martinez-Agosto, Julian A, Mar-waha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E, McCray, Alexa F, Merker, Jason D, Metz, Thomas O, Might, Matthew, Moretti, Paolo M, Morimoto, Marie, Mulvihill, John J, Murdock, David R, Murphy, Jennifer L, Muzny, Donna M, Nehrebecky, Michele E, Nelson, Stan F, Newberry, J Scott, Newman, John H, Nicholas, Sarah K, Novacic, Donna, Orange, Jordan S, Orengo, James P, Pallais, J Carl, Palmer, Christina GS, Papp, Jeanette C, Parker, Neil H, Pena, Loren DM, Phillips, John A, Posey, Jennifer E, Postlethwait, John H, Potocki, Lorraine, Pusey, Barbara N, Reuter, Chloe M, Rives, Lynette, Robertson, Amy K, Rodan, Lance H, Rosenfeld, Jill A, Sampson, Jacinda B, Samson, Susan L, Schoch, Kelly, Scott, Daryl A, Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K, Sinsheimer, Janet S, Smith, Kevin S, Spillmann, Rebecca C, Stoler, Joan M, Stong, Nicholas, Sullivan, Jennifer A, Tan, Queenie K-G, Tifft, Cynthia J, Toro, Camilo, Tran, Alyssa A, Urv, Tiina K, Vilain, Eric, Vogel, Tiphanie P, Waggott, Daryl M, Wahl, Colleen E, Walker, Melissa, Walley, Nicole M, Walsh, Chris A, Wan, Jijun, Wangler, Michael F, Ward, Patricia A, Waters, Katrina M, Webb-Robertson, Bobbie-Jo M, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Wolfe, Lynne A, Worthey, Elizabeth A, Yamamoto, Shinya, Yang, Yaping, Yoon, Amanda J, Yu, Guoyun, Zastrow, Diane B, Zhao, Chunli, Zheng, Allison
Publikováno v:
Epilepsia, vol 60, iss 3
Epilepsia
Volume 60
Issue 3
Epilepsia
Volume 60
Issue 3
OBJECTIVE: To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype-protein structure-phenotype relationships. METHODS: We evaluated the phenotypes of 14 patients with GNAO1 variants, analyzed their variants for p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c1b69e09098a81f728c426e3ae47d2d
https://escholarship.org/uc/item/5mv7d47m
https://escholarship.org/uc/item/5mv7d47m
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Autor:
Tuschl, Karin, Meyer, Esther, Valdivia, Leonardo E, Zhao, Ningning, Dadswell, Chris, Abdul-Sada, Alaa, Hung, Christina Y, Simpson, Michael A, Chong, WK, Jacques, Thomas S, Woltjer, Randy L, Eaton, Simon, Gregory, Allison, Sanford, Lynn, Kara, Eleanna, Houlden, Henry, Cuno, Stephan M, Prokisch, Holger, Valletta, Lorella, Tiranti, Valeria, Younis, Rasha, Maher, Eamonn R, Spencer, John, Straatman-Iwanowska, Ania, Gissen, Paul, Selim, Laila AM, Pintos-Morell, Guillem, Coroleu-Lletget, Wifredo, Mohammad, Shekeeb S, Yoganathan, Sangeetha, Dale, Russell C, Thomas, Maya, Rihel, Jason, Bodamer, Olaf A, Enns, Caroline A, Hayflick, Susan J, Clayton, Peter T, Mills, Philippa B, Kurian, Manju A, Wilson, Stephen W
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-16 (2016)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Tuschl, K, Meyer, E, Valdivia, L E, Zhao, N, Dadswell, C, Abdul-Sada, A, Hung, C Y, Simpson, M A, Chong, W K, Jacques, T S, Woltjer, R L, Eaton, S, Gregory, A, Sanford, L, Kara, E, Houlden, H, Cuno, S M, Prokisch, H, Valletta, L, Tiranti, V, Younis, R, Maher, E R, Spencer, J, Straatman-Iwanowska, A, Gissen, P, Selim, L A M, Pintos-Morell, G, Coroleu-Lletget, W, Mohammad, S S, Yoganathan, S, Dale, R C, Thomas, M, Rihel, J, Bodamer, O A, Enns, C A, Hayflick, S J, Clayton, P T, Mills, P B, Kurian, M A & Wilson, S W 2016, ' Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia ', Nature Communications, vol. 7, 11601 . https://doi.org/10.1038/ncomms11601
Nature Communications
Nat. Commun. 7:11601 (2016)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Tuschl, K, Meyer, E, Valdivia, L E, Zhao, N, Dadswell, C, Abdul-Sada, A, Hung, C Y, Simpson, M A, Chong, W K, Jacques, T S, Woltjer, R L, Eaton, S, Gregory, A, Sanford, L, Kara, E, Houlden, H, Cuno, S M, Prokisch, H, Valletta, L, Tiranti, V, Younis, R, Maher, E R, Spencer, J, Straatman-Iwanowska, A, Gissen, P, Selim, L A M, Pintos-Morell, G, Coroleu-Lletget, W, Mohammad, S S, Yoganathan, S, Dale, R C, Thomas, M, Rihel, J, Bodamer, O A, Enns, C A, Hayflick, S J, Clayton, P T, Mills, P B, Kurian, M A & Wilson, S W 2016, ' Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia ', Nature Communications, vol. 7, 11601 . https://doi.org/10.1038/ncomms11601
Nature Communications
Nat. Commun. 7:11601 (2016)
Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in SLC39A14
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9020105a9f72cc4ac02a66fb7f9b33e
Autor:
Koenighofer, Martin, Hung, Christina Y., McCauley, Jacob L., Dallman, Julia, Back, Emma J., Mihalek, Ivana, Gripp, Karen W., Sol-Church, Katia, Rusconi, Paolo, Zhang, Zhaiyi, Shi, Geng-Xian, Andres, Douglas A., Bodamer, Olaf A.
RASopathies are a clinically heterogeneous group of conditions caused by mutations in 1 of 16 proteins in the RAS-mitogen activated protein kinase (RAS-MAPK) pathway. Recently, mutations in RIT1 were identified as a novel cause for Noonan syndrome. H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c642302d0dd124d26e2680d644618d34
https://europepmc.org/articles/PMC4760689/
https://europepmc.org/articles/PMC4760689/
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