A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report

por Gyening, Yeboah Kofi, Boris, Keren, Cyril, Mignot, Brush, Richard S., Nassogne, Marie-Cécile, Agbaga, Martin-Paul
Publicado 2023

ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis

por Gyening, Yeboah Kofi, Chauhan, Neeraj Kumar, Tytanic, Madison, Ea, Vicki, Brush, Richard S., Agbaga, Martin-Paul
Publicado 2022