Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophyDevesh C. Pant, Aurora Pujol, Imen Dorboz et al.|Journal of Clinical Investigation|2019Cited by 106
Frequency and phenotypic spectrum of spinocerebellar ataxia <scp>27B</scp> and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxiaPablo Iruzubieta, Javier Ruiz‐Martínez, Roberto Fernández‐Torrón et al.|European Journal of Neurology|2023Cited by 39
Expanding the clinical and genetic spectrum of PCYT2-related disordersValentina Vélez-Santamaría, Aurora Pujol, Colleen Macmurdo et al.|Brain|2020Cited by 23