Rab3A, a possible marker of cortical granules, participates in cortical granule exocytosis in mouse eggs
Bello, Oscar Daniel, Cappa, Andrea Isabel, de Paola, Matilde, Zanetti, María Natalia, Fukuda, Mitsunori, Fissore, Rafael A., Mayorga, Luis S., Michaut, Marcela A.
Published in Experimental cell research (10.09.2016)
Published in Experimental cell research (10.09.2016)
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RIM, Munc13, and Rab3A interplay in acrosomal exocytosis
Bello, Oscar D., Zanetti, M. Natalia, Mayorga, Luis S., Michaut, Marcela A.
Published in Experimental cell research (10.03.2012)
Published in Experimental cell research (10.03.2012)
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15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder
Chelban, Viorica, Wilson, Matthew P, Chardon, Jodi Warman, Vandrovcova, Jana, Natalia Zanetti, M, Zamba-Papanicolaou, Eleni, Efthymiou, Stephanie, Pope, Simon, Conte, Maria R, Abis, Giancarlo, Liu, Yo-Tsen, Tribollet, Eloise, Haridy, Nourelhoda A, Botía, Juan A, Ryten, Mina, Nicolaou, Paschalis, Minaidou, Anna, Christodoulou, Kyproula, Kernohan, Kristin D, Eaton, Alison, Osmond, Matthew, Ito, Yoko, Bourque, Pierre, Jepson, James EC, Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary M, Foiani, Martha, Heslegrave, Amanda, Zetterberg, Henrik, Heales, Simon JR, Wood, Nicholas W, Rothman, James E, Boycott, Kym M, Mills, Philippa B, Clayton, Peter T, Houlden, Henry
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2019)
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2019)
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Acrosomal Swelling Is Triggered by cAMP Downstream of the Opening of Store-Operated Calcium Channels During Acrosomal Exocytosis in Human Sperm1
Sosa, Claudia M, Zanetti, M. Natalia, Pocognoni, Cristian A, Mayorga, Luis S
Published in Biology of reproduction (01.03.2016)
Published in Biology of reproduction (01.03.2016)
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Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination
Chelban, Viorica, Patel, Nisha, Vandrovcova, Jana, Zanetti, M. Natalia, Lynch, David S., Ryten, Mina, Botía, Juan A., Bello, Oscar, Tribollet, Eloise, Efthymiou, Stephanie, Davagnanam, Indran, Bashiri, Fahad A., Wood, Nicholas W., Rothman, James E., Alkuraya, Fowzan S., Houlden, Henry
Published in American journal of human genetics (01.06.2017)
Published in American journal of human genetics (01.06.2017)
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Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Chelban, Viorica, Aksnes, Henriette, Maroofian, Reza, LaMonica, Lauren C., Seabra, Luis, Siggervåg, Anette, Devic, Perrine, Shamseldin, Hanan E., Vandrovcova, Jana, Murphy, David, Richard, Anne-Claire, Quenez, Olivier, Bonnevalle, Antoine, Zanetti, M. Natalia, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Efthymiou, Stephanie, Schottlaender, Lucia V., Morsy, Heba, Scardamaglia, Annarita, Tariq, Ambreen, Pagnamenta, Alistair T., Pennavaria, Ajia, Krogstad, Liv S., Bekkelund, Åse K., Caiella, Alessia, Glomnes, Nina, Brønstad, Kirsten M., Tury, Sandrine, Moreno De Luca, Andrés, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Anheim, Mathieu, Cretin, Benjamin, Vona, Barbara, Alajlan, Fahad, Abdulwahab, Firdous, Battini, Jean-Luc, İpek, Rojan, Bauer, Peter, Zifarelli, Giovanni, Gungor, Serdal, Kurul, Semra Hiz, Lochmuller, Hanns, Da’as, Sahar I., Fakhro, Khalid A., Gómez-Pascual, Alicia, Botía, Juan A., Wood, Nicholas W., Horvath, Rita, Ernst, Andreas M., Rothman, James E., McEntagart, Meriel, Crow, Yanick J., Alkuraya, Fowzan S., Nicolas, Gaël, Arnesen, Thomas, Houlden, Henry
Published in Nature communications (13.03.2024)
Published in Nature communications (13.03.2024)
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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Salpietro, Vincenzo, Efthymiou, Stephanie, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Di Rosa, Gabriella, Pironti, Erica, Goraya, Jatinder S., Sultan, Tipu, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa’, Mercedes, Munell, Francina, Macaya, Alfons, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G., Rothman, James E., Kullmann, Dimitri M., Houlden, Henry, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Macaya, Alfons, Kullmann, Dimitri M., Rothman, James E., Krishnakumar, Shyam S., Houlden, Henry
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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272 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder
Chelban, Viorica, Wilson, Matthew, Zanetti, Natalia, Zamba-Papanicolaou, Eleni, Conte, Maria, Cordivari, Carla, Mills, Philippa, Wood, Nicholas, Clayton, Peter, Houlden, Henry
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2019)
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2019)
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