María Jesús
Sobrido Gómez
Klinikum der Universität München
Múnich, AlemaniaPublicaciones en colaboración con investigadores/as de Klinikum der Universität München (2)
2022
-
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
Movement Disorders, Vol. 37, Núm. 6, pp. 1175-1186
2019
-
Recommendations for patient screening in ultra-rare inherited metabolic diseases: What have we learned from Niemann-Pick disease type C?
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1