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

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

doi:10.1093/brain/awab133

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

Lookup NU author(s): Daniel Cox ORCiD, Professor Giorgio Tasca ORCiD, 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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INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH

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