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Cardiolipin, Mitochondria, and Neurological Disease.
Falabella M, Vernon HJ, Hanna MG, Claypool SM, Pitceathly RDS. Falabella M, et al. Trends Endocrinol Metab. 2021 Apr;32(4):224-237. doi: 10.1016/j.tem.2021.01.006. Epub 2021 Feb 24. Trends Endocrinol Metab. 2021. PMID: 33640250 Free PMC article. Review.
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Poole OV, Pizzamiglio C, Murphy D, Falabella M, Macken WL, Bugiardini E, Woodward CE, Labrum R, Efthymiou S, Salpietro V, Chelban V, Kaiyrzhanov R, Maroofian R; SYNaPS Study Group; Amato AA, Gregory A, Hayflick SJ; Queen Square Genomics; Jonvik H, Wood N, Houlden H, Vandrovcova J, Hanna MG, Pittman A, Pitceathly RDS. Poole OV, et al. Among authors: falabella m. Ann Neurol. 2021 Jun;89(6):1240-1247. doi: 10.1002/ana.26063. Epub 2021 Apr 1. Ann Neurol. 2021. PMID: 33704825 Free PMC article.
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Macken WL, Falabella M, McKittrick C, Pizzamiglio C, Ellmers R, Eggleton K, Woodward CE, Patel Y, Labrum R; Genomics England Research Consortium; Phadke R, Reilly MM, DeVile C, Sarkozy A, Footitt E, Davison J, Rahman S, Houlden H, Bugiardini E, Quinlivan R, Hanna MG, Vandrovcova J, Pitceathly RDS. Macken WL, et al. Among authors: falabella m. Nat Commun. 2022 Nov 7;13(1):6324. doi: 10.1038/s41467-022-32908-7. Nat Commun. 2022. PMID: 36344503 Free PMC article.
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.
Bianciardi L, Imperatore V, Fernandez-Vizarra E, Lopomo A, Falabella M, Furini S, Galluzzi P, Grosso S, Zeviani M, Renieri A, Mari F, Frullanti E. Bianciardi L, et al. Among authors: falabella m. Mol Genet Metab. 2016 Nov;119(3):214-222. doi: 10.1016/j.ymgme.2016.09.001. Epub 2016 Sep 3. Mol Genet Metab. 2016. PMID: 27623250
G-quadruplex dynamics contribute to regulation of mitochondrial gene expression.
Falabella M, Kolesar JE, Wallace C, de Jesus D, Sun L, Taguchi YV, Wang C, Wang T, Xiang IM, Alder JK, Maheshan R, Horne W, Turek-Herman J, Pagano PJ, St Croix CM, Sondheimer N, Yatsunyk LA, Johnson FB, Kaufman BA. Falabella M, et al. Sci Rep. 2019 Apr 3;9(1):5605. doi: 10.1038/s41598-019-41464-y. Sci Rep. 2019. PMID: 30944353 Free PMC article.
Potential Roles for G-Quadruplexes in Mitochondria.
Falabella M, Fernandez RJ, Johnson FB, Kaufman BA. Falabella M, et al. Curr Med Chem. 2019;26(16):2918-2932. doi: 10.2174/0929867325666180228165527. Curr Med Chem. 2019. PMID: 29493440 Free PMC article. Review.
32 results