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Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.
Perli E, Pisano A, Glasgow RIC, Carbo M, Hardy SA, Falkous G, He L, Cerbelli B, Pignataro MG, Zacara E, Re F, Della Monica PL, Morea V, Bonnen PE, Taylor RW, d'Amati G, Giordano C. Perli E, et al. Among authors: hardy sa. Sci Rep. 2019 Mar 25;9(1):5108. doi: 10.1038/s41598-019-41483-9. Sci Rep. 2019. PMID: 30911037 Free PMC article.
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Oláhová M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AA, Mundy H, Broomfield A, Barbosa IA, Simpson MA, Deshpande C, Moeslinger D, Koch J, Stettner GM, Bonnen PE, Prokisch H, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZM, Taylor RW. Oláhová M, et al. Among authors: hardy sa. Brain. 2015 Dec;138(Pt 12):3503-19. doi: 10.1093/brain/awv291. Epub 2015 Oct 27. Brain. 2015. PMID: 26510951 Free PMC article.
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.
Oláhová M, Thompson K, Hardy SA, Barbosa IA, Besse A, Anagnostou ME, White K, Davey T, Simpson MA, Champion M, Enns G, Schelley S, Lightowlers RN, Chrzanowska-Lightowlers ZM, McFarland R, Deshpande C, Bonnen PE, Taylor RW. Oláhová M, et al. Among authors: hardy sa. J Inherit Metab Dis. 2017 Jan;40(1):121-130. doi: 10.1007/s10545-016-9977-2. Epub 2016 Sep 30. J Inherit Metab Dis. 2017. PMID: 27696117 Free PMC article.
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.
Thompson K, Mai N, Oláhová M, Scialó F, Formosa LE, Stroud DA, Garrett M, Lax NZ, Robertson FM, Jou C, Nascimento A, Ortez C, Jimenez-Mallebrera C, Hardy SA, He L, Brown GK, Marttinen P, McFarland R, Sanz A, Battersby BJ, Bonnen PE, Ryan MT, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW. Thompson K, et al. Among authors: hardy sa. EMBO Mol Med. 2018 Nov;10(11):e9060. doi: 10.15252/emmm.201809060. EMBO Mol Med. 2018. PMID: 30201738 Free PMC article.
Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.
Ng YS, Grady JP, Lax NZ, Bourke JP, Alston CL, Hardy SA, Falkous G, Schaefer AG, Radunovic A, Mohiddin SA, Ralph M, Alhakim A, Taylor RW, McFarland R, Turnbull DM, Gorman GS. Ng YS, et al. Among authors: hardy sa. Eur Heart J. 2016 Aug 21;37(32):2552-9. doi: 10.1093/eurheartj/ehv306. Epub 2015 Jul 17. Eur Heart J. 2016. PMID: 26188002 Free PMC article.
Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.
Hardy SA, Blakely EL, Purvis AI, Rocha MC, Ahmed S, Falkous G, Poulton J, Rose MR, O'Mahony O, Bermingham N, Dougan CF, Ng YS, Horvath R, Turnbull DM, Gorman GS, Taylor RW. Hardy SA, et al. Neurol Genet. 2016 Jun 23;2(4):e82. doi: 10.1212/NXG.0000000000000082. eCollection 2016 Aug. Neurol Genet. 2016. PMID: 27536729 Free PMC article.
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
Alston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O'Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW. Alston CL, et al. Among authors: hardy sa. J Med Genet. 2016 Sep;53(9):634-41. doi: 10.1136/jmedgenet-2015-103576. Epub 2016 Apr 18. J Med Genet. 2016. PMID: 27091925 Free PMC article.
80 results