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The Newcastle University research output collection, currently available on ePrints, will shortly be moving to a new open repository platform, Figshare. To prepare for the data migration we have paused adding new content to ePrints, and will resume once the new repository is launched. During this time you will continue to have access to ePrints (but no new content will appear). We will share updates here when available.

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

Lookup NU author(s): Daniel CoxORCiD, Professor Giorgio TascaORCiD, 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

Volume: 144

Issue: 8

Pages: 2427-2442

Print publication date: 01/08/2021

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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