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pro vyhledávání: '"Crumrine, Patricia"'
Akademický článek
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Autor:
Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna A., Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Pendziwiat, Manuela, Robbiano, Angela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay M., Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne G., Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amrom, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Poduri, Annapurna, Sadleir, Lynette G., Scheffer, Ingrid E., Shellhaas, Renée A, Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P. G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Allen, Andrew S., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Johnson, Michael R., Marson, Anthony G., Mefford, Heather C., Nieh, Sahar Esmaeeli, O'Brien, Terence J., Petrou, Stephen, Petrovski, Slavé, Ruzzo, Elizabeth K.
Publikováno v:
American Journal of Human Genetics, 100(1), 179. Cell Press
(The American Journal of Human Genetics 95, 360–370; October 2, 2014) In the list of consortium members for the Epilepsy Phenome/Genome Project, member Dina Amrom's name was misspelled as Amron. The authors regret the error.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::24201f75f89c8a056998ad9955236266
https://dspace.library.uu.nl/handle/1874/356468
https://dspace.library.uu.nl/handle/1874/356468
Autor:
Allen, Andrew S, Berkovic, Samuel F, Bridgers, Joshua, Cossette, Patrick, Dlugos, Dennis, Epstein, Michael P, Glauser, Tracy, Goldstein, David B, Heinzen, Erin L, Jiang, Yu, Johnson, Michael R, Kuzniecky, Ruben, Lowenstein, Daniel H, Marson, Anthony G, Mefford, Heather C, O'Brien, Terence J, Ottman, Ruth, Petrou, Steven, Petrovski, Slave, Poduri, Annapurna, Ren, Zhong, Scheffer, Ingrid E, Sherr, Elliott, Wang, Quanli, Balling, Rudi, Barisic, Nina, Baulac, Stephanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jaehn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R, Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Moller, Rikke S, Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M, Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne, Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K, Amrom, Dina, Andermann, Eva, Andermann, Frederick, Bautista, Jocelyn F, Bluvstein, Judith, Cascino, Gregory D, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Fiol, Miguel E, Fountain, Nathan B, French, Jacqueline, Friedman, Daniel, Haas, Kevin, Haut, Sheryl R, Hayward, Jean, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E, Kossoff, Eric H, Kuperman, Rachel, McGuire, Shannon M, Motika, Paul V, Novotny, Edward J, Paolicchi, Juliann M, Parent, Jack, Park, Kristen, Shellhaas, Renee A, Sirven, Joseph, Smith, Michael C, Sullivan, Joseph, Thio, Liu Lin, Venkat, Anu, Vining, Eileen PG, Von Allmen, Gretchen K, Weisenberg, Judith L, Widdess-Walsh, Peter, Winawer, Melodie R, Consortium, Epi4K, Consortium, EuroEPINOMICS-RES, Project, Epilepsy Phenome Genome
Publikováno v:
European journal of human genetics
Hjalgrim, H, Møller, R S, Epi4K Consortium, EuroEPINOMICS RES Consortium & Epilepsy Phenome Genome Project 2017, ' Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data ', European Journal of Human Genetics, vol. 25, no. 7, pp. 894-899 . https://doi.org/10.1038/ejhg.2017.61
EUROPEAN JOURNAL OF HUMAN GENETICS
European Journal of Human Genetics, 25(7), 894. Nature Publishing Group
Hjalgrim, H, Møller, R S, Epi4K Consortium, EuroEPINOMICS RES Consortium & Epilepsy Phenome Genome Project 2017, ' Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data ', European Journal of Human Genetics, vol. 25, no. 7, pp. 894-899 . https://doi.org/10.1038/ejhg.2017.61
EUROPEAN JOURNAL OF HUMAN GENETICS
European Journal of Human Genetics, 25(7), 894. Nature Publishing Group
The classic epileptic encephalopathies, including infantile spasms (IS) and Lennox-Gastaut syndrome (LGS), are severe seizure disorders that usually arise sporadically. De novo variants in genes mainly encoding ion channel and synaptic proteins have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acf9128ff7d720f7f793d665b77f628e
http://hdl.handle.net/11567/1022119
http://hdl.handle.net/11567/1022119
Autor:
Crumrine, Patricia K.
Publikováno v:
In Seminars in Pediatric Neurology 2000 7(3):216-223
Autor:
Allen, Andrew S., Berkovic, Samuel F., Coe, Bradley P., Cook, Joseph, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E., Epstein, Michael P., Glauser, Tracy, Goldstein, David B., Heinzen, Erin L., Johnson, Michael R., Krumm, Nik, Kuzniecky, Ruben, Lowenstein, Daniel H., Marson, Anthony G., Mefford, Heather C., Nelson, Ben, Esmaeeli Nieh, Sahar, O'Brien, Terence J., Ottman, Ruth, Petrou, Stephen, Petrovski, Slavé, Poduri, Annapurna, Raja, Archana, Ruzzo, Elizabeth K., Scheffer, Ingrid E., Sherr, Elliott, Abou‐Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F., Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glynn, Simon, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Shellhaas, Renée A., Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P.G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess‐Walsh, Peter, Winawer, Melodie R.
Publikováno v:
Annals of neurology, vol 78, iss 2
Annals of Neurology
Annals of Neurology
The epileptic encephalopathies (EEs) are a devastating group of epilepsies in which epileptic activity and seizures contribute to cognitive impairment or regression.1 Most EEs begin in infancy or early childhood and are associated with poor developme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ef6c5356861521355bd774275af47f9
http://hdl.handle.net/10044/1/41944
http://hdl.handle.net/10044/1/41944
Akademický článek
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Autor:
EPGP Collaborative, Abou-Khalil, Bassel, Alldredge, Brian, Bautista, Jocelyn, Berkovic, Sam, Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Cristofaro, Sabrina, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael, Fahlstrom, Robyn, Fiol, Miguel, Fountain, Nathan, Fox, Kristen, French, Jacqueline, Freyer Karn, Catharine, Friedman, Daniel, Geller, Eric, Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl, Hayward, Jean, Helmers, Sandra, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi, Knowlton, Robert, Kossoff, Eric, Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel, McGuire, Shannon, Motika, Paul, Nesbitt, Gerard, Novotny, Edward, Ottman, Ruth, Paolicchi, Juliann, Parent, Jack, Park, Kristen, Poduri, Annapurna, Risch, Neil, Sadleir, Lynette, Scheffer, Ingrid, Shellhaas, Renee, Sherr, Elliott, Shih, Jerry J, Shinnar, Shlomo, Singh, Rani, Sirven, Joseph, Smith, Michael, Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen, von Allmen, Gretchen, Weisenberg, Judith, Widdess-Walsh, Peter, Winawer, Melodie
Publikováno v:
Clinical trials (London, England), vol 10, iss 4
BackgroundEpilepsy is a common neurological disorder that affects approximately 50 million people worldwide. Both risk of epilepsy and response to treatment partly depend on genetic factors, and gene identification is a promising approach to target n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::d399f263078a944ec9ea8546de547151
https://escholarship.org/uc/item/1t77p43g
https://escholarship.org/uc/item/1t77p43g
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