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Hathazi D, Cox D, D'Amico A, et al. INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. Brain. 2021;144(8):2427-2442doi: 10.1093/brain/awab133.
Hathazi, D., Cox, D., D'Amico, A., Tasca, G., Charlton, R., Carlier, R. Y., Baumann, J., Kollipara, L., Zahedi, R. P., Feldmann, I., Deleuze, J. F., Torella, A., Cohn, R., Robinson, E., Ricci, F., Jungbluth, H., Fattori, F., Boland, A., O'Connor, E., Horvath, R., Barresi, R., Lochmüller, H., Urtizberea, A., Jacquemont, M. L., Nelson, I., Swan, L., Bonne, G., & Roos, A. (2021). INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. Brain : a journal of neurology, 144(8), 2427-2442. https://doi.org/10.1093/brain/awab133
Hathazi, Denisa, et al. "INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH." Brain : a journal of neurology vol. 144,8 (2021): 2427-2442. doi: https://doi.org/10.1093/brain/awab133
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, Lochmüller H, Urtizberea A, Jacquemont ML, Nelson I, Swan L, Bonne G, Roos A. INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. Brain. 2021 Sep 04;144(8):2427-2442. doi: 10.1093/brain/awab133. PMID: 33792664; PMCID: PMC8418339.
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