Munc18-1 Controls SNARE Protein Complex Assembly during Human Sperm Acrosomal Exocytosis

מאת Rodríguez, Facundo, Zanetti, M. Natalia, Mayorga, Luis S., Tomes, Claudia N.
יצא לאור 2012

RIM, Munc13, and Rab3A Interplay in Acrosomal Exocytosis

מאת Bello, Oscar D., Zanetti, M. Natalia, Mayorga, Luis S., Michaut, Marcela A.
יצא לאור 2012

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

מאת 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
הוצא לאור ב Am J Hum Genet (2017)

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

מאת Chelban, Viorica, Wilson, Matthew P., Warman Chardon, Jodi, Vandrovcova, Jana, Zanetti, M. Natalia, 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 E. C., Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary M., Foiani, Martha, Heslegrave, Amanda, Zetterberg, Henrik, Heales, Simon J. R., Wood, Nicholas W., Rothman, James E., Boycott, Kym M., Mills, Philippa B., Clayton, Peter T., Houlden, Henry
הוצא לאור ב Ann Neurol (2019)