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Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.
Macken WL, Falabella M, Pizzamiglio C, Woodward CE, Scotchman E, Chitty LS, Polke JM, Bugiardini E, Hanna MG, Vandrovcova J, Chandler N, Labrum R, Pitceathly RDS. Macken WL, et al. Among authors: pizzamiglio c. Expert Rev Mol Diagn. 2023 Jul-Dec;23(9):797-814. doi: 10.1080/14737159.2023.2241365. Epub 2023 Aug 29. Expert Rev Mol Diagn. 2023. PMID: 37642407 Review.
Mitochondrial Strokes: Diagnostic Challenges and Chameleons.
Pizzamiglio C, Bugiardini E, Macken WL, Woodward CE, Hanna MG, Pitceathly RDS. Pizzamiglio C, et al. Genes (Basel). 2021 Oct 19;12(10):1643. doi: 10.3390/genes12101643. Genes (Basel). 2021. PMID: 34681037 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: pizzamiglio c. Nat Commun. 2022 Nov 7;13(1):6324. doi: 10.1038/s41467-022-32908-7. Nat Commun. 2022. PMID: 36344503 Free PMC article.
Defective interhemispheric inhibition in drug-treated focal epilepsies.
Strigaro G, Matino E, Falletta L, Pizzamiglio C, Tondo G, Badawy R, Cantello R. Strigaro G, et al. Among authors: pizzamiglio c. Brain Stimul. 2017 May-Jun;10(3):579-587. doi: 10.1016/j.brs.2016.12.002. Epub 2016 Dec 9. Brain Stimul. 2017. PMID: 28017318
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: pizzamiglio c. 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.
Cortical visuomotor interactions in Freezing of Gait: A TMS approach.
Strigaro G, Barbero P, Pizzamiglio C, Magistrelli L, Gori B, Comi C, Varrasi C, Cantello R. Strigaro G, et al. Among authors: pizzamiglio c. Neurophysiol Clin. 2020 Jul;50(3):205-212. doi: 10.1016/j.neucli.2020.04.001. Epub 2020 Apr 27. Neurophysiol Clin. 2020. PMID: 32354665
17 results