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MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Reid KM, Spaull R, Salian S, Barwick K, Meyer E, Zhen J, Hirata H, Sheipouri D, Benkerroum H, Gorman KM, Papandreou A, Simpson MA, Hirano Y, Farabella I, Topf M, Grozeva D, Carss K, Smith M, Pall H, Lunt P, De Gressi S, Kamsteeg EJ, Haack TB, Carr L, Guerreiro R, Bras J, Maher ER, Scott RH, Vandenberg RJ, Raymond FL, Chong WK, Sudhakar S, Mankad K, Reith ME, Campeau PM, Harvey RJ, Kurian MA. Reid KM, et al. Among authors: sheipouri d. Mov Disord. 2022 Oct;37(10):2139-2146. doi: 10.1002/mds.29147. Epub 2022 Jul 25. Mov Disord. 2022. PMID: 35876425 Free PMC article.
Genetic screening reveals phospholipid metabolism as a key regulator of the biosynthesis of the redox-active lipid coenzyme Q.
Ayer A, Fazakerley DJ, Suarna C, Maghzal GJ, Sheipouri D, Lee KJ, Bradley MC, Fernández-Del-Rio L, Tumanov S, Kong SM, van der Veen JN, Yang A, Ho JWK, Clarke SG, James DE, Dawes IW, Vance DE, Clarke CF, Jacobs RL, Stocker R. Ayer A, et al. Among authors: sheipouri d. Redox Biol. 2021 Oct;46:102127. doi: 10.1016/j.redox.2021.102127. Epub 2021 Sep 8. Redox Biol. 2021. PMID: 34521065 Free PMC article.