Papers: 10.1093/brain/awz291

https://doi.org/10.1093/brain/awz291

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

Cited by: 73
Author(s): Frédéric M. Vaz, John H McDermott, Mariëlle Alders, Saskia B. Wortmann, Stefan Kölker, Mia L. Pras‐Raves, Martin A. T. Vervaart, Henk van Lenthe, Angela C. M. Luyf, Hyung L. Elfrink, Kay Metcalfe, Sara Cuvertino, Peter E. Clayton, Rebecca Yarwood, Martin Lowe, Simon C. Lovell, R. Curtis Rogers, Deciphering Developmental Disorders Study, Antoine H. C. van Kampen, J. P. N. Ruiter, Ronald J. A. Wanders, Sacha Ferdinandusse, Michel van Weeghel, Marc Engelen, Siddharth Banka
Published: almost 7 years ago

Software Mentions 2