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2008 1
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Page 1
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.
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.
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.
Ng YS, Lax NZ, Maddison P, Alston CL, Blakely EL, Hepplewhite PD, Riordan G, Meldau S, Chinnery PF, Pierre G, Chronopoulou E, Du A, Hughes I, Morris AA, Kamakari S, Chrousos G, Rodenburg RJ, Saris CGJ, Feeney C, Hardy SA, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna MG, Ohtake A, Schaefer AM, Champion MP, Turnbull DM, Taylor RW, Pitceathly RDS, McFarland R, Gorman GS. Ng YS, et al. Among authors: hardy sa. EBioMedicine. 2018 Apr;30:86-93. doi: 10.1016/j.ebiom.2018.02.010. Epub 2018 Feb 24. EBioMedicine. 2018. PMID: 29506874 Free PMC article.
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.
Bacalhau M, Simões M, Rocha MC, Hardy SA, Vincent AE, Durães J, Macário MC, Santos MJ, Rebelo O, Lopes C, Pratas J, Mendes C, Zuzarte M, Rego AC, Girão H, Wong LC, Taylor RW, Grazina M. Bacalhau M, et al. Among authors: hardy sa. Neuromuscul Disord. 2018 Apr;28(4):350-360. doi: 10.1016/j.nmd.2017.11.006. Epub 2017 Nov 23. Neuromuscul Disord. 2018. PMID: 29398297 Free PMC article.
Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia.
Sommerville EW, Jones RL, Hardy SA, Blakely EL, Pyle A, Schaefer AM, Chinnery PF, Turnbull DM, Gorman GS, Taylor RW. Sommerville EW, et al. Among authors: hardy sa. Neurol Genet. 2017 Dec 15;3(6):e202. doi: 10.1212/NXG.0000000000000202. eCollection 2017 Dec. Neurol Genet. 2017. PMID: 29264394 Free PMC article. No abstract available.
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenège D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G. Charif M, et al. Among authors: hardy sa. JAMA Neurol. 2018 Jan 1;75(1):105-113. doi: 10.1001/jamaneurol.2017.2065. JAMA Neurol. 2018. PMID: 29181510 Free PMC article.
26 results