Search Results - Ganieva, G. A.

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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 in Nature communications
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    PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation by Chelban, Viorica, Wilson, Matthew P., Warman Chardon, Jodi, Vandrovcova, Jana, Zamba‐Papanicolaou, Eleni, Pope, Simon, Conte, Maria R., Abis, Giancarlo, Liu, Yo‐Tsen, Tribollet, Eloise, Haridy, Nourelhoda A., Botía, Juan A., Ryten, Mina, Nicolaou, Paschalis, Minaidou, Anna, Kernohan, Kristin D., Eaton, Alison, Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary M., Foiani, Martha, Zetterberg, Henrik, Heales, Simon J. R., Rothman, James E., Clayton, Peter T., Houlden, Henry, Kriouile, Yamna, Aguennouz, Mhammed, Groppa, Stanislav, Marinova Karashova, Blagovesta, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez‐Dueñas, Belen, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Pineda‐Marfa, Mercedes, Ferrari, Michel D., van den Maagdenberg, Arn M J M, Verrotti, Alberto, Marseglia, Giangluigi, García‐Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Boles, Richard, Giunti, Paola, Chelban, Viorica, Salpietro, Vincenzo, Efthymiou, Stephanie, Kullmann, Dimitri, Kaiyrzhanov, Rauan, Sullivan, Roisin, Khan, Alaa Matooq, Yau, Wai Yan, Papanicolaou, Eleni Zamba, Maqbool, Shazia, Rana, Nuzhat Noureen, Atawneh, Osama, Shaikh, Farooq, Koutsis, George, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Borgione, Eugenia, Stojkovic, Tanya, Torti, Erin, Zollo, Massimi, Dauvilliers, Yves A., Rizig, Mie, Okubadejo, Njideka U., Ojo, Oluwadamilola O., Wahab, Kolawole, Bello, Abiodun H., Obiabo, Yahaya, Nwazor, Ernest, Iyagba, Alagoma, Taiwo, Lolade, Komolafe, Morenikeji, Oguntunde, Olapeju, Senkevich, Konstantin, Haridy, Nourelhoda, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Isrofilov, Maksud, Khachatryan, Samson, Silvestri, Gabriella, Bourinaris, Thomas, Fidani, Liana

    Published in Annals of neurology
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    Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome by Salpietro, Vincenzo, Maroofian, Reza, Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Aughey, Gabriel N., Al Mutairi, Fuad, Accogli, Andrea, Zara, Federico, Tariq, Huma, Rehman, Khalil Ur, Abd Elmaksoud, Marwa, El Said, Huda G., Al Shalan, Maha, Khang, Rin, Elbendary, Hasnaa M., Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Ververi, Athina, Sourmpi, Mara, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Hannah, Michael G., Bertini, Enrico, Aguennouz, Mhammed, Groppa, Stanislav, Kathom, Hadil, Tincheva, Radka, Verrotti, Alberto, Macaya, Alfons, Garavaglia, Barbara, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Z., Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Rana, Nuzhat N., Atawneh, Osama, Zuccotti, Gian V., Marseglia, Gian L., Shaikh, Farooq, Corsello, Giovanni, Mangano, Salvatore, Koutsis, George, Scuderi, Carmela, Ferrara, Pietro, Zollo, Massimo, Berni-Canani, Roberto, Sisto, Antonio, Strano, Federica, Di Francesco, Ludovica, Salayev, Kamran, Xiromerisiou, Georgia, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Di Rosa, Gabriella, Pettoello-Mantovani, Massimo, Tazir, Meriem, Farello, Giovanni, Delvecchio, Maurizio, Di-Donato, Giulio, Obeid, Makram, Saadi, Nebal W., Maccarone, Rita, Kara, Majdi, Karimiani, Ehsan G., Seri, Marco, Di-Falco, Giovanna, Barrano, Giuseppe, Operto, Francesca F., Valenzise, Mariella, Matricardi, Sara, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, De Filippo, Maria, Licari, Amelia, Trebbi, Edoardo, Romano, Ferdinando, Heimer, Gali, Al-Khawaja, Issam, Al-Mutairi, Fuad, Shashkin, Chingiz, Koneyev, Kairgali, Pagnamenta, Alistair T., Corsello, Antonio, Dallapiccola, Bruno, Alobeid, Eman, Mankad, Kshitij, Ghayoor-Karimiani, Ehsan, Chung, Wendy K., Green, Rachel, Alkuraya, Fowzan S., Jepson, James E.C., Houlden, Henry

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