Antonio Falace

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 · 156 citations · Full text

Is Mutated, Arf6-interacting Protein, Genetic Disorder +6

<i>TBC1D24</i> genotype–phenotype correlation

Simona Balestrini, Mathieu Milh, Claudia Castiglioni et al. · Neurology · 2016 · 126 citations · Full text

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy

Nicola Vanni, Floriana Fruscione, Edoardo Ferlazzo et al. · Annals of Neurology · 2014 · 99 citations

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes

Roberta Biancheri, Antonio Falace, Alessandra Tessa et al. · Biochemical and Biophysical Research Communications · 2007 · 96 citations

Rare Diseases, Mendelian Disorder, Genetic Disorder +9

TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway

Antonio Falace, Emmanuelle Buhler, Manuela Fadda et al. · Proceedings of the National Academy of Sciences · 2014 · 95 citations · Full text