Pubblicazioni

Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations

2020 - PEDIATRIC NEUROLOGY

Barresi, S.; Dentici, M. L.; Manzoni, F.; Bellacchio, E.; Agolini, E.; Pizzi, S.; Ciolfi, A.; Tarnopolsky, M.; Brady, L.; Garone, G.; Novelli, A.; Mei, D.; Guerrini, R.; Capuano, A.; Pantaleoni, C.; Tartaglia, M.

Keppen-lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6

2015 - AMERICAN JOURNAL OF HUMAN GENETICS

Masotti, Andrea; Uva, Paolo; Davis Keppen, Laura; Basel Vanagaite, Lina; Cohen, Lior; Pisaneschi, Elisa; Celluzzi, Antonella; Bencivenga, Paola; Fang, Mingyan; Tian, Mingyu; Xu, Xun; Cappa, Marco; Dallapiccola, Bruno