The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome

by Cinthia Aguilera, Stefan Hümmer, Stefan Hümmer, Marc Masanas, Elisabeth Gabau, Miriam Guitart, A. Arockia Jeyaprakash, Miguel F. Segura, Anna Santamaria, Anna Ruiz
Published 2021-05-01

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature

by Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz, Miriam Guitart
Published 2017-11-01