Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseasesElena Perenthaler, Salem Alwadaee, Herma C. van der Linde et al.|Acta Neuropathologica|2019Cited by 71
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane traffickingLeslie E. Sanderson, Reza Maroofian, Kristina Lanko et al.|Brain|2021Cited by 52
Genetic and phenotypic characterization of <i>NKX6‐2</i>‐related spastic ataxia and hypomyelinationViorica Chelban, Namik Kaya, Maysoon Alsagob et al.|European Journal of Neurology|2019Cited by 23