Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophyDevesh C. Pant, Aurora Pujol, Imen Dorboz et al.|Journal of Clinical Investigation|2019Cited by 106
CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré SyndromeHelle Al-Hakem, Fábio Barroso, Alex Y. Doets et al.|Neurology|2023Cited by 54
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, Juan José Poza et al.|European Journal of Neurology|2023Cited by 39
Expanding the clinical and genetic spectrum of PCYT2-related disordersValentina Vélez-Santamaría, Aurora Pujol, Edgard Verdura et al.|Brain|2020Cited by 23
Large-scale profiling of antibody reactivity to glycolipids in patients with Guillain-Barré syndromeRobin C.M. Thomma, Rhys Roberts, Susan K. Halstead et al.|Brain|2025Cited by 9