by Politei, J., Schenone, A.B., Cabrera, G., Heguilen, R., Szlago, M.
Published in Clinical genetics (01.01.2016)

by Winchester, B., Bali, D., Bodamer, O.A., Caillaud, C., Christensen, E., Cooper, A., Cupler, E., Deschauer, M., Fumić, K., Jackson, M., Kishnani, P., Lacerda, L., Ledvinová, J., Lugowska, A., Lukacs, Z., Maire, I., Mandel, H., Mengel, E., Müller-Felber, W., Piraud, M., Reuser, A., Rupar, T., Sinigerska, I., Szlago, M., Verheijen, F., van Diggelen, O.P., Wuyts, B., Zakharova, E., Keutzer, J.
Published in Molecular genetics and metabolism (01.03.2008)

by Pasqualim, G., Ribeiro, M.G., da Fonseca, G.G.G., Szlago, M., Schenone, A., Lemes, A., Rojas, M.V.M., Matte, U., Giugliani, R.
Published in Clinical genetics (01.10.2015)

by Canals, I, Elalaoui, SC, Pineda, M, Delgadillo, V, Szlago, M, Jaouad, IC, Sefiani, A, Chabás, A, Coll, MJ, Grinberg, D, Vilageliu, L
Published in Clinical genetics (01.10.2011)

by Szlago, M, Gallus, G N, Schenone, A, Patiño, M E, Sfaelo, Z, Rufa, A, Da Pozzo, P, Cardaioli, E, Dotti, M T, Federico, A
Published in Neurology (29.01.2008)

by Hamilton, Eline M. C., van der Lei, Hannemieke D. W., Lourenço, Charles M., Naidu, Sakkubai, Mierzewska, Hanna, de Vet, Henrica C. W., Uitdehaag, Bernard M. J., Lissenberg‐Witte, Birgit I., Aldhalaan, H., Alves, D., Appleton, R., Arslan, E.A., Baethmann, M., Banwell, B., Barbot, C., Bertini, E., Bley, A., Bollen, L., Boltshauser, E., Bower, S., Bravo Oro, A., Campos, M.M., Carr, L., Chan, A.K.J., Clarke, A., Crow, Y., Csányi, B., Del Rossario Aldao, M., D'Hooghe, M., El Helou, J, Fallon, P., Ferlini, A., Ferro, J.M., Fluss, J., Fontenelle, L., Garone, C., Geldhoff, M., Glamuzina, E., Góes, F., Gonzalez, V., Guarda, C., Gulati, S., Güler, S., Horvath, R., Jagadeesh, S., Kaczorowska, M., Kankirawatana, P., Karall, D., King, M.D., Krägeloh‐Mann, I., Lehman, A., Liptai, Z., Livingston, J.H., Maes, M., Majumdar, A., Mandel, H., McEntagart, M., Morton, R., Moura de Souza, C.F., Mundy, H., Naess, K., Naismith, K., Newton, R.W., Noetzel, M.J., O'Brien, B, Okálová, K., Østergaard, J.R., Pato Pato, A., Pera, J., Perlman, S., Philippart, M., Régal, L., Rice, C.M., Rossignol, E., Rubin, J.P., Salvi, F., Sampaio, H., Sánchez Herrero, J., Santos, E., Sessa, M., Sharma, S., Shearn, J., Shoffner, J., Skranes, J.S., Sparagana, S.P., Storey, E., Sztriha, L., Tatli, B., Tekturk, P., Tennison, M., Tirupathi, S., Toledo Bravo de Laguna, L., Tuna, M.A., Valverde, A., van Coster, R., Vasconcelos, M., Vogt, H., von Kleist‐Retzow, J.C., Wong, S.S.N., Yavuz, H.
Published in Annals of neurology (01.08.2018)

by Yubero, Dèlia, Brandi, Núria, Ormazabal, Aida, Garcia-Cazorla, Àngels, Pérez-Dueñas, Belén, Campistol, Jaime, Ribes, Antonia, Palau, Francesc, Artuch, Rafael, Armstrong, Judith
Published in PloS one (31.05.2016)

by Politei, J, Schenone, AB, Cabrera, G, Heguilen, R, Szlago, M
Published in Clinical genetics (01.01.2016)

by Pasqualim, G., Ribeiro, M.G., da Fonseca, G.G.G., Szlago, M., Schenone, A., Lemes, A., Rojas, M.V.M., Matte, U., Giugliani, R.
Published in Clinical genetics (01.10.2015)

by Urreizti, Roser, Asteggiano, Carla, Bermudez, Marta, Córdoba, Alfonso, Szlago, Mariana, Grosso, Carola, de Kremer, Raquel Dodelson, Vilarinho, Laura, D'Almeida, Vania, Martínez-Pardo, Mercedes, Peña-Quintana, Luís, Dalmau, Jaime, Bernal, Jaime, Briceño, Ignacio, Couce, María Luz, Rodés, Marga, Vilaseca, Maria Antonia, Balcells, Susana, Grinberg, Daniel
Published in Journal of human genetics (01.01.2006)

by Juan Politei MD, Andrea Beatriz Schenone MD, Cabrera Gustavo MD, Antacle Alejandra MD, Szlago Marina MD
Published in Journal of inborn errors of metabolism and screening (01.02.2015)