Hopton S - Search Results

1

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.

Hellebrekers DMEI, Blakely EL, Hendrickx ATM, Hardy SA, Hopton S, Falkous G, de Coo IFM, Smeets HJM, van der Beek NME, Taylor RW. Hellebrekers DMEI, et al. Among authors: hopton s. Neuromuscul Disord. 2019 Sep;29(9):693-697. doi: 10.1016/j.nmd.2019.08.005. Epub 2019 Aug 21. Neuromuscul Disord. 2019. PMID: 31488384 Free article.

2

Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA^Lys (m.8340G>A) gene variant.

Gill JS, Hardy SA, Blakely EL, Hopton S, Nemeth AH, Fratter C, Poulton J, Taylor RW, Downes SM. Gill JS, et al. Among authors: hopton s. Br J Ophthalmol. 2017 Sep;101(9):1298-1302. doi: 10.1136/bjophthalmol-2017-310370. Epub 2017 Jul 20. Br J Ophthalmol. 2017. PMID: 28729369 Free PMC article.

3

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.

Ahmed ST, Alston CL, Hopton S, He L, Hargreaves IP, Falkous G, Oláhová M, McFarland R, Turnbull DM, Rocha MC, Taylor RW. Ahmed ST, et al. Among authors: hopton s. Sci Rep. 2017 Nov 15;7(1):15676. doi: 10.1038/s41598-017-14623-2. Sci Rep. 2017. PMID: 29142257 Free PMC article.

4

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: hopton s. JAMA Neurol. 2018 Jan 1;75(1):105-113. doi: 10.1001/jamaneurol.2017.2065. JAMA Neurol. 2018. PMID: 29181510 Free PMC article.

5

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.

Peter B, Waddington CL, Oláhová M, Sommerville EW, Hopton S, Pyle A, Champion M, Ohlson M, Siibak T, Chrzanowska-Lightowlers ZMA, Taylor RW, Falkenberg M, Lightowlers RN. Peter B, et al. Among authors: hopton s. Hum Mol Genet. 2018 May 15;27(10):1743-1753. doi: 10.1093/hmg/ddy080. Hum Mol Genet. 2018. PMID: 29518248 Free PMC article.

6

Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene.

Smith F, Hopton S, Dallabona C, Gilberti M, Falkous G, Norwood F, Donnini C, Gorman GS, Clark B, Taylor RW, Kulasekararaj AG. Smith F, et al. Among authors: hopton s. Haematologica. 2018 Dec;103(12):e564-e566. doi: 10.3324/haematol.2018.194464. Epub 2018 Jul 5. Haematologica. 2018. PMID: 29976739 Free PMC article. No abstract available.

7

Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy.

King MS, Thompson K, Hopton S, He L, Kunji ERS, Taylor RW, Ortiz-Gonzalez XR. King MS, et al. Among authors: hopton s. Neurol Genet. 2018 Jul 20;4(4):e256. doi: 10.1212/NXG.0000000000000256. eCollection 2018 Aug. Neurol Genet. 2018. PMID: 30046662 Free PMC article.

8

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.

Hayhurst H, de Coo IFM, Piekutowska-Abramczuk D, Alston CL, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake NJ, Compton AG, Delatycki MB, Verrips A, Bonnen PE, Jones SA, Morris AA, Shakespeare D, Christodoulou J, Wesol-Kucharska D, Rokicki D, Smeets HJM, Pronicka E, Thorburn DR, Gorman GS, McFarland R, Taylor RW, Ng YS. Hayhurst H, et al. Among authors: hopton s. Ann Clin Transl Neurol. 2019 Feb 17;6(3):515-524. doi: 10.1002/acn3.725. eCollection 2019 Mar. Ann Clin Transl Neurol. 2019. PMID: 30911575 Free PMC article.

9

A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes.

Lim AZ, Blakely EL, Baty K, He L, Hopton S, Falkous G, McWilliam K, Cozens A, McFarland R, Taylor RW. Lim AZ, et al. Among authors: hopton s. Mitochondrion. 2019 Jul;47:18-23. doi: 10.1016/j.mito.2019.04.007. Epub 2019 Apr 22. Mitochondrion. 2019. PMID: 31022467 Free PMC article. Clinical Trial.

10

A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.

Zierz CM, Baty K, Blakely EL, Hopton S, Falkous G, Schaefer AM, Hadjivassiliou M, Sarrigiannis PG, Ng YS, Taylor RW. Zierz CM, et al. Among authors: hopton s. J Clin Med. 2019 Jun 4;8(6):789. doi: 10.3390/jcm8060789. J Clin Med. 2019. PMID: 31167410 Free PMC article.

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