Search Results - Heimer, Gali
- Showing 1 - 19 results of 19
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Dopamine Replacement Therapy Does Not Restore the Full Spectrum of Normal Pallidal Activity in the 1-Methyl-4-Phenyl-1,2,3,6-Tetra-Hydropyridine Primate Model of Parkinsonism by Heimer, Gali, Rivlin-Etzion, Michal, Bar-Gad, Izhar, Goldberg, Joshua A., Haber, Suzanne N., Bergman, Hagai
Published 2006Text -
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Neighboring Pallidal Neurons Do Not Exhibit more Synchronous Oscillations than Remote Ones in the MPTP Primate Model of Parkinson's Disease by Mitelman, Rea, Rosin, Boris, Zadka, Hila, Slovik, Maya, Heimer, Gali, Ritov, Ya'akov, Bergman, Hagai, Elias, Shlomo
Published 2011Text -
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Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease by Landau, Yuval E., Heimer, Gali, Barel, Ortal, Shalva, Nechama, Marek-Yagel, Dina, Veber, Alvit, Javasky, Elisheva, Shilon, Aya, Nissenkorn, Andreea, Ben-Zeev, Bruria, Anikster, Yair
Published 2020Text -
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Lysosomal targeting of autophagosomes by the TECPR domain of TECPR2 by Fraiberg, Milana, Tamim-Yecheskel, Bat-Chen, Kokabi, Kamilya, Subic, Nemanja, Heimer, Gali, Eck, Franziska, Nalbach, Karsten, Behrends, Christian, Ben-Zeev, Bruria, Shatz, Oren, Elazar, Zvulun
Published 2020Text -
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The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome by Bird, Lynne M., Ochoa-Lubinoff, Cesar, Tan, Wen-Hann, Heimer, Gali, Melmed, Raun D., Rakhit, Amit, Visootsak, Jeannie, During, Matthew J., Holcroft, Christina, Burdine, Rebecca D., Kolevzon, Alexander, Thibert, Ronald L.
Published 2021Text -
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A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation by Tamim-Yecheskel, Bat-Chen, Fraiberg, Milana, Kokabi, Kamilya, Freud, Saskia, Shatz, Oren, Marvaldi, Letizia, Subic, Nemanja, Brenner, Ori, Tsoory, Michael, Eilam-Altstadter, Raya, Biton, Inbal, Savidor, Alon, Dezorella, Nili, Heimer, Gali, Behrends, Christian, Ben-Zeev, Bruria, Elazar, Zvulun
Published 2020Text -
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Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities by Wagner, Matias, Skorobogatko, Yuliya, Pode-Shakked, Ben, Powell, Cynthia M., Alhaddad, Bader, Seibt, Annette, Barel, Ortal, Heimer, Gali, Hoffmann, Chen, Demmer, Laurie A., Perilla-Young, Yezmin, Remke, Marc, Wieczorek, Dagmar, Navaratnarajah, Tharsini, Lichtner, Peter, Klee, Dirk, Shamseldin, Hanan E., Al Mutairi, Fuad, Mayatepek, Ertan, Strom, Tim, Meitinger, Thomas, Alkuraya, Fowzan S., Anikster, Yair, Saltiel, Alan R., Distelmaier, Felix
Published 2020Text -
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Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios by Zhu, Xiaolin, Petrovski, Slavé, Xie, Pingxing, Ruzzo, Elizabeth K., Lu, Yi-Fan, McSweeney, K. Melodi, Ben-Zeev, Bruria, Nissenkorn, Andreea, Anikster, Yair, Oz-Levi, Danit, Dhindsa, Ryan S., Hitomi, Yuki, Schoch, Kelly, Spillmann, Rebecca C., Heimer, Gali, Marek-Yagel, Dina, Tzadok, Michal, Han, Yujun, Worley, Gordon, Goldstein, Jennifer, Jiang, Yong-Hui, Lancet, Doron, Pras, Elon, Shashi, Vandana, McHale, Duncan, Need, Anna C., Goldstein, David B.
Published 2015Text -
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De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures by Myers, Candace T., Stong, Nicholas, Mountier, Emily I., Helbig, Katherine L., Freytag, Saskia, Sullivan, Joseph E., Ben Zeev, Bruria, Nissenkorn, Andreea, Tzadok, Michal, Heimer, Gali, Shinde, Deepali N., Rezazadeh, Arezoo, Regan, Brigid M., Oliver, Karen L., Ernst, Michelle E., Lippa, Natalie C., Mulhern, Maureen S., Ren, Zhong, Poduri, Annapurna, Andrade, Danielle M., Bird, Lynne M., Bahlo, Melanie, Berkovic, Samuel F., Lowenstein, Daniel H., Scheffer, Ingrid E., Sadleir, Lynette G., Goldstein, David B., Mefford, Heather C., Heinzen, Erin L.
Published 2017Text -
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MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder by Heimer, Gali, Kerätär, Juha M., Riley, Lisa G., Balasubramaniam, Shanti, Eyal, Eran, Pietikäinen, Laura P., Hiltunen, J. Kalervo, Marek-Yagel, Dina, Hamada, Jeffrey, Gregory, Allison, Rogers, Caleb, Hogarth, Penelope, Nance, Martha A., Shalva, Nechama, Veber, Alvit, Tzadok, Michal, Nissenkorn, Andreea, Tonduti, Davide, Renaldo, Florence, Kraoua, Ichraf, Panteghini, Celeste, Valletta, Lorella, Garavaglia, Barbara, Cowley, Mark J., Gayevskiy, Velimir, Roscioli, Tony, Silberstein, Jonathon M., Hoffmann, Chen, Raas-Rothschild, Annick, Tiranti, Valeria, Anikster, Yair, Christodoulou, John, Kastaniotis, Alexander J., Ben-Zeev, Bruria, Hayflick, Susan J.
Published 2016Text -
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Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy by Barel, Ortal, Malicdan, May Christine V, Ben-Zeev, Bruria, Kandel, Judith, Pri-Chen, Hadass, Stephen, Joshi, Castro, Inês G, Metz, Jeremy, Atawa, Osama, Moshkovitz, Sharon, Ganelin, Esther, Barshack, Iris, Polak-Charcon, Sylvie, Nass, Dvora, Marek-Yagel, Dina, Amariglio, Ninette, Shalva, Nechama, Vilboux, Thierry, Ferreira, Carlos, Pode-Shakked, Ben, Heimer, Gali, Hoffmann, Chen, Yardeni, Tal, Nissenkorn, Andreea, Avivi, Camila, Eyal, Eran, Kol, Nitzan, Glick Saar, Efrat, Wallace, Douglas C, Gahl, William A, Rechavi, Gideon, Schrader, Michael, Eckmann, David M, Anikster, Yair
Published 2017Text -
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A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies by Pode-Shakked, Ben, Barel, Ortal, Singer, Amihood, Regev, Miriam, Poran, Hana, Eliyahu, Aviva, Finezilber, Yael, Segev, Meirav, Berkenstadt, Michal, Yonath, Hagith, Reznik-Wolf, Haike, Gazit, Yael, Chorin, Odelia, Heimer, Gali, Gabis, Lidia V., Tzadok, Michal, Nissenkorn, Andreea, Bar-Yosef, Omer, Zohar-Dayan, Efrat, Ben-Zeev, Bruria, Mor, Nofar, Kol, Nitzan, Nayshool, Omri, Shimshoviz, Noam, Bar-Joseph, Ifat, Marek-Yagel, Dina, Javasky, Elisheva, Einy, Reviva, Gal, Moran, Grinshpun-Cohen, Julia, Shohat, Mordechai, Dominissini, Dan, Raas-Rothschild, Annick, Rechavi, Gideon, Pras, Elon, Greenbaum, Lior
Published 2021Text -
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Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability by Anikster, Yair, Haack, Tobias B., Vilboux, Thierry, Pode-Shakked, Ben, Thöny, Beat, Shen, Nan, Guarani, Virginia, Meissner, Thomas, Mayatepek, Ertan, Trefz, Friedrich K., Marek-Yagel, Dina, Martinez, Aurora, Huttlin, Edward L., Paulo, Joao A., Berutti, Riccardo, Benoist, Jean-François, Imbard, Apolline, Dorboz, Imen, Heimer, Gali, Landau, Yuval, Ziv-Strasser, Limor, Malicdan, May Christine V., Gemperle-Britschgi, Corinne, Cremer, Kirsten, Engels, Hartmut, Meili, David, Keller, Irene, Bruggmann, Rémy, Strom, Tim M., Meitinger, Thomas, Mullikin, James C., Schwartz, Gerard, Ben-Zeev, Bruria, Gahl, William A., Harper, J. Wade, Blau, Nenad, Hoffmann, Georg F., Prokisch, Holger, Opladen, Thomas, Schiff, Manuel
Published 2017Text -
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Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants by Schwarz, Niklas, Seiffert, Simone, Pendziwiat, Manuela, Rademacher, Annika Verena, Brünger, Tobias, Hedrich, Ulrike B.S., Augustijn, Paul B., Baier, Hartmut, Bayat, Allan, Bisulli, Francesca, Buono, Russell J., Bruria, Ben Zeev, Doyle, Michael G., Guerrini, Renzo, Heimer, Gali, Iacomino, Michele, Kearney, Hugh, Klein, Karl Martin, Kousiappa, Ioanna, Kunz, Wolfram S., Lerche, Holger, Licchetta, Laura, Lohmann, Ebba, Minardi, Raffaella, McDonald, Marie, Montgomery, Sarah, Mulahasanovic, Lejla, Oegema, Renske, Ortal, Barel, Papacostas, Savvas S., Ragona, Francesca, Granata, Tiziana, Reif, Phillip S., Rosenow, Felix, Rothschild, Annick, Scudieri, Paolo, Striano, Pasquale, Tinuper, Paolo, Tanteles, George A., Vetro, Annalisa, Zahnert, Felix, Goldberg, Ethan M., Zara, Federico, Lal, Dennis, May, Patrick, Muhle, Hiltrud, Helbig, Ingo, Weber, Yvonne
Published 2022Text -
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders by Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G., Santiago-Sim, Teresa, Person, Richard E., Cho, Megan T., Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A., Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M., Jaeger, Bregje, Schneider, Amy L., Boysen, Katja, Muir, Alison M., Myers, Candace T., Gavrilova, Ralitza H., Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W., Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N., De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C., Scheffer, Ingrid E., Clayton-Smith, Jill, Macaya, Alfons, Rothman, James E., Eichler, Evan E., Kullmann, Dimitri M., Houlden, Henry
Published 2019Text