Publications:

New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49).

Brain Communications

Corral-Juan, Marc M; Casquero, Pilar P; Giraldo-Restrepo, Natalia N; Laurie, Steve S; Martinez-Piñeiro, Alicia A; Mateo-Montero, Raidili Cristina RC; Ispierto, Lourdes L; Vilas, Dolores D; Tolosa, Eduardo E; Volpini, Victor V; Alvarez-Ramo, Ramiro R; Sánchez, Ivelisse I; Matilla-Dueñas, Antoni A

Publication Date: 2022

Variant appearance in text: rs10263800

PubMed Link: 35310830

Variant Present in the following documents:

• Main text
• fcac030_supplementary_data.pdf
• fcac030.pdf

View BVdb publication page