Publications

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects., Parrini, Elena, Mei Davide, Pisanti Maria Antonietta, Catarzi Serena, Pucatti Daniela, Bianchini Claudia, Mascalchi Mario, Bertini Enrico, Morrone Amelia, Cavaliere Maria Luigia, et al. , Journal of medical genetics, 2015 Jun, Volume 52, Issue 6, p.405-12, (2015) Abstract

Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome., Doccini, Stefano, Meschini Maria Chiara, Mei Davide, Guerrini Renzo, Sicca Federico, and Santorelli Filippo Maria , Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015 Jul 14, (2015)

Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms., Conti, Valerio, Marini Carla, Mei Davide, Falchi Melania, Ferrari Anna Rita, and Guerrini Renzo , American journal of medical genetics. Part A, 2010 Dec 10, (2010) Abstract