Functional Correlations between Neighboring Neurons in the Primate Globus Pallidus Are Weak or Nonexistent

gan Bar-Gad, Izhar, Heimer, Gali, Ritov, Ya'acov, Bergman, Hagai
Cyhoeddwyd yn J Neurosci (2003)

Dopamine Replacement Therapy Reverses Abnormal Synchronization of Pallidal Neurons in the 1-Methyl-4-Phenyl-1,2,3,6-Tetrahydropyridine Primate Model of Parkinsonism

gan Heimer, Gali, Bar-Gad, Izhar, Goldberg, Joshua A., Bergman, Hagai
Cyhoeddwyd yn J Neurosci (2002)

Statistical Properties of Pauses of the High-Frequency Discharge Neurons in the External Segment of the Globus Pallidus

gan Elias, Shlomo, Joshua, Mati, Goldberg, Joshua A., Heimer, Gali, Arkadir, David, Morris, Genela, Bergman, Hagai
Cyhoeddwyd yn J Neurosci (2007)

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

gan Heimer, Gali, Rivlin-Etzion, Michal, Bar-Gad, Izhar, Goldberg, Joshua A., Haber, Suzanne N., Bergman, Hagai
Cyhoeddwyd yn J Neurosci (2006)

Development of an adapted Clinical Global Impression scale for use in Angelman syndrome

gan Kolevzon, Alexander, Ventola, Pamela, Keary, Christopher J., Heimer, Gali, Neul, Jeffrey L., Adera, Mathews, Jaeger, Judith
Cyhoeddwyd yn J Neurodev Disord (2021)

Neighboring Pallidal Neurons Do Not Exhibit more Synchronous Oscillations than Remote Ones in the MPTP Primate Model of Parkinson's Disease

gan Mitelman, Rea, Rosin, Boris, Zadka, Hila, Slovik, Maya, Heimer, Gali, Ritov, Ya'akov, Bergman, Hagai, Elias, Shlomo
Cyhoeddwyd 2011

Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease

gan 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
Cyhoeddwyd yn Mol Genet Metab Rep (2020)

The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome

gan 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.
Cyhoeddwyd yn Neurology (2021)

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

gan 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
Cyhoeddwyd yn Am J Hum Genet (2020)

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

gan 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.
Cyhoeddwyd yn Genet Med (2015)

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

gan 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.
Cyhoeddwyd yn Am J Hum Genet (2017)

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

gan 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.
Cyhoeddwyd yn Am J Hum Genet (2016)

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy

gan 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
Cyhoeddwyd yn Brain (2017)

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

gan 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
Cyhoeddwyd yn Am J Hum Genet (2017)

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

gan 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
Cyhoeddwyd yn Nat Commun (2019)