A mutation of<i>EPT1 (SELENOI)</i>underlies a new disorder of Kennedy pathway phospholipid biosynthesisAndrew H. Crosby, Jay Self, Claire Salter et al.|Brain|2016Cited by 78
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairmentMassimo Zollo, Emma L. Baple, Veronica Ferrucci et al.|Brain|2017Cited by 75
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegiaLuis Carlos Tábara, Emma L. Baple, Fatema Al-Salmi et al.|Brain|2022Cited by 37