Nicola Vanni

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

Antonio Falace, Fabia Filipello, Veronica La Padula et al. · The American Journal of Human Genetics · 2010 · 157 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance

Federico Zara, Nicola Specchio, Pasquale Striano et al. · Epilepsia · 2013 · 124 citations · Full text

Medicine, Genetics, Neurology +17

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy

Nicola Vanni, Floriana Fruscione, Edoardo Ferlazzo et al. · Annals of Neurology · 2014 · 101 citations

Life Sciences, Genetics, Neuroscience +17

A novel pedigree with familial cortical myoclonic tremor and epilepsy (<scp>FCMTE</scp>): Clinical characterization, refinement of the <scp>FCMTE</scp>2 locus, and confirmation of a founder haplotype

Laura Licchetta, Tommaso Pippucci, Francesca Bisulli et al. · Epilepsia · 2013 · 24 citations · Full text

Life Sciences, Genetics, Neurology +15

Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis

Edoardo Ferlazzo, Pasquale Striano, Domenico Italiano et al. · Epileptic Disorders · 2016 · 14 citations

Medicine, Genetics, Neurology +17