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

Vaz, McDermott et al. identify variants in PCYT2, which encodes a key gene in phospholipid biosynthesis, in five individuals with a new complex hereditary spast

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Main Authors: Vaz, Frédéric (Author) , McDermott, John H. (Author) , Alders, Mariëlle (Author) , Wortmann, Saskia Brigitte (Author) , Kölker, Stefan (Author) , Pras-Raves, Mia L. (Author) , Vervaart, Martin A. T. (Author) , van Lenthe, Henk (Author) , Luyf, Angela C. M. (Author) , Elfrink, Hyung L. (Author) , Metcalfe, Kay (Author) , Cuvertino, Sara (Author) , Clayton, Peter E. (Author) , Yarwood, Rebecca (Author) , Lowe, Martin P. (Author) , Lovell, Simon (Author) , Rogers, Richard Curtis (Author) , van Kampen, Antoine H. C. (Author) , Ruiter, Jos P. N. (Author) , Wanders, Ronald J. A. (Author) , Ferdinandusse, Sacha (Author) , van Weeghel, Michel (Author) , Engelen, Marc (Author) , Banka, Siddharth (Author)
Format: Article (Journal)
Language:English
Published: 2019
In: Brain
Year: 2019, Volume: 142, Issue: 11, Pages: 3382-3397
ISSN:1460-2156
DOI:10.1093/brain/awz291
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1093/brain/awz291
Verlag, kostenfrei, Volltext: https://academic.oup.com/brain/article/142/11/3382/5601846
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Author Notes: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 P. Lowe, Simon Lovell, Richard C. Rogers, Antoine H. C. van Kampen, Jos P. N. Ruiter, Ronald J. A. Wanders, Sacha Ferdinandusse, Michel van Weeghel, Marc Engelen, Siddharth Banka

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