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INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH

Lookup NU author(s): Daniel Cox, Dr Richard Charlton

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Author(s): Hathazi D, Cox D, D'Amico A, Tasca G, Charlton R, Carlier RY, Baumann J, Kollipara L, Zahedi RP, Feldmann I, Deleuze JF, Torella A, Cohn R, Robinson E, Ricci F, Jungbluth H, Fattori F, Boland A, O'Connor E, Horvath R, Barresi R, Lochmuller H, Urtizberea A, Jacquemont ML, Nelson I, Swan L, Bonne G, Roos A

Publication type: Article

Publication status: Published

Journal: Brain

Year: 2021

Pages: epub ahead of print

Online publication date: 01/04/2021

Acceptance date: 30/01/2021

ISSN (print): 0006-8950

ISSN (electronic): 1460-2156

Publisher: Oxford University Press

URL: https://doi.org/10.1093/brain/awab133

DOI: 10.1093/brain/awab133


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