A mutation of<i>EPT1 (SELENOI)</i>underlies a new disorder of Kennedy pathway phospholipid biosynthesisAndrew H. Crosby, Amaury Cazenave‐Gassiot, Aisha Al‐Khayat et al.|Brain|2016Cited by 78
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairmentMassimo Zollo, Emma L. Baple, James R. Lupski et al.|Brain|2017Cited by 75
Loss of PCLO function underlies pontocerebellar hypoplasia type IIIGaneshwaran H. Mochida, Saeed Al-Turki, Jennifer N. Partlow et al.|Neurology|2015Cited by 67