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Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R. Ng YS, et al. Among authors: nesbitt v. Ann Neurol. 2019 Aug;86(2):310-315. doi: 10.1002/ana.25525. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187502 Free PMC article.
Disease progression in patients with single, large-scale mitochondrial DNA deletions.
Grady JP, Campbell G, Ratnaike T, Blakely EL, Falkous G, Nesbitt V, Schaefer AM, McNally RJ, Gorman GS, Taylor RW, Turnbull DM, McFarland R. Grady JP, et al. Among authors: nesbitt v. Brain. 2014 Feb;137(Pt 2):323-34. doi: 10.1093/brain/awt321. Epub 2013 Nov 25. Brain. 2014. PMID: 24277717 Free PMC article.
A national perspective on prenatal testing for mitochondrial disease.
Nesbitt V, Alston CL, Blakely EL, Fratter C, Feeney CL, Poulton J, Brown GK, Turnbull DM, Taylor RW, McFarland R. Nesbitt V, et al. Eur J Hum Genet. 2014 Nov;22(11):1255-9. doi: 10.1038/ejhg.2014.35. Epub 2014 Mar 19. Eur J Hum Genet. 2014. PMID: 24642831 Free PMC article.
Causes of Death in Adults with Mitochondrial Disease.
Barends M, Verschuren L, Morava E, Nesbitt V, Turnbull D, McFarland R. Barends M, et al. Among authors: nesbitt v. JIMD Rep. 2016;26:103-13. doi: 10.1007/8904_2015_449. Epub 2015 Sep 10. JIMD Rep. 2016. PMID: 26354038 Free PMC article.
Epilepsy in adults with mitochondrial disease: A cohort study.
Whittaker RG, Devine HE, Gorman GS, Schaefer AM, Horvath R, Ng Y, Nesbitt V, Lax NZ, McFarland R, Cunningham MO, Taylor RW, Turnbull DM. Whittaker RG, et al. Among authors: nesbitt v. Ann Neurol. 2015 Dec;78(6):949-57. doi: 10.1002/ana.24525. Epub 2015 Nov 17. Ann Neurol. 2015. PMID: 26381753 Free PMC article.
Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice.
Morovat A, Weerasinghe G, Nesbitt V, Hofer M, Agnew T, Quaghebeur G, Sergeant K, Fratter C, Guha N, Mirzazadeh M, Poulton J. Morovat A, et al. Among authors: nesbitt v. J Clin Med. 2017 Aug 21;6(8):80. doi: 10.3390/jcm6080080. J Clin Med. 2017. PMID: 28825656 Free PMC article.
31 results