Albert Edo

Adaptive selection drives TRPP3 loss-of-function in an Ethiopian population

J. Bertranpetit, B. Oliva, Sandra Walsh, 2020, Scientific Reports.

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings

B. Oliva, C. Ortez, A. Martínez-Monseny, 2021, International journal of molecular sciences.

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

D. Cuadras, C. Pérez-Cerdá, R. Artuch, 2018, International journal of molecular sciences.