A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with Complex I impairments and altered pyruvate metabolism

Diquigiovanni, C., Bergamini, C., Diaz, R., Liparulo, I., Bianco, F., Masin, L., Baldassarro, V. A., Rizzardi, N., Tranchina, A., Bruscherini, F., Wischmeijer, A., Pippucci, T., Scarano, E., Cordelli, D. M., Fato, R., Seri, M., Paracchini, S. & Bonora, E., 17 Jul 2019, In : FASEB Journal. Early Online, 19 p.

Research output: Contribution to journal › Article

FUNCTIONAL CHARACTERIZATION OF ATP2C2, A RISK FACTOR FOR LANGUAGE DISORDERS

Martinelli, A., Diaz, R., Feliciotti, I., Pitt, S. & Paracchini, S., 2019, In : European Neuropsychopharmacology. 29, p. 1194-1195 2 p.

Research output: Contribution to journal › Abstract

Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

Gialluisi, A., Andlauer, T. F. M., Mirza-schreiber, N., Moll, K., Becker, J., Hoffmann, P., Ludwig, K. U., Czamara, D., St Pourcain, B., Brandler, W., Honbolygó, F., Tóth, D., Csépe, V., Huguet, G., Morris, A. P., Hulslander, J., Willcutt, E. G., Defries, J. C., Olson, R. K., Smith, S. D. & 25 othersPennington, B. F., Vaessen, A., Maurer, U., Lyytinen, H., Peyrard-janvid, M., Leppänen, P. H. T., Brandeis, D., Bonte, M., Stein, J. F., Talcott, J. B., Fauchereau, F., Wilcke, A., Francks, C., Bourgeron, T., Monaco, A. P., Ramus, F., Landerl, K., Kere, J., Scerri, T. S., Paracchini, S., Fisher, S. E., Schumacher, J., Nöthen, M. M., Müller-myhsok, B. & Schulte-körne, G., 11 Feb 2019, In : Translational Psychiatry. 9, 15 p., 77.

Research output: Contribution to journal › Article