Maurizio Elia

A genetic variant that disrupts <i>MET</i> transcription is associated with autism

James S. Sutcliffe, Philip J. Ebert, Roberto Militerni et al. · Proceedings of the National Academy of Sciences · 2006 · 407 citations · Full text

Genetics, Genetic Epidemiology, Autism Families +16

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Bregje W.M. van Bon, Heather C. Mefford, Björn Menten et al. · Journal of Medical Genetics · 2009 · 366 citations · Full text

Mutations in NHLRC1 cause progressive myoclonus epilepsy

Elayne M. Chan, Edwin J. Young, Leonarda Ianzano et al. · Nature Genetics · 2003 · 323 citations

Neurological Disorder, Genetic Disorder, Genetics +3

Audiogenic Seizures Susceptibility in Transgenic Mice with Fragile X Syndrome

S Musumeci, Paolo Bosco, Giuseppe Calabrese et al. · Epilepsia · 2000 · 292 citations · Full text

Spectrum of<i>SCN1A</i>mutations in severe myoclonic epilepsy of infancy

Rima Nabbout, Elena Di Gennaro, Bernardo Dalla Bernardina et al. · Neurology · 2003 · 245 citations