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Items: 8

1.

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.

Neurol Genet. 2018 Jul 20;4(4):e256. doi: 10.1212/NXG.0000000000000256. eCollection 2018 Aug.

2.

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.

Haematologica. 2018 Jul 5. pii: haematol.2018.194464. doi: 10.3324/haematol.2018.194464. [Epub ahead of print] No abstract available.

3.

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.

Hum Mol Genet. 2018 May 15;27(10):1743-1753. doi: 10.1093/hmg/ddy080.

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.

JAMA Neurol. 2018 Jan 1;75(1):105-113. doi: 10.1001/jamaneurol.2017.2065.

5.

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.

Sci Rep. 2017 Nov 15;7(1):15676. doi: 10.1038/s41598-017-14623-2.

6.

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

Gill JS, Hardy SA, Blakely EL, Hopton S, Nemeth AH, Fratter C, Poulton J, Taylor RW, Downes SM.

Br J Ophthalmol. 2017 Sep;101(9):1298-1302. doi: 10.1136/bjophthalmol-2017-310370. Epub 2017 Jul 20.

7.

Nuclear magnetic resonance solution structures of inter- and intrastrand adducts of DNA cross-linker SJG-136.

Hopton SR, Thompson AS.

Biochemistry. 2011 May 31;50(21):4720-32. doi: 10.1021/bi102017e. Epub 2011 May 3.

PMID:
21488658
8.

Manipulative interplay of two adozelesin molecules with d(ATTAAT)₂achieving ligand-stacked Watson-Crick and Hoogsteen base-paired duplex adducts.

Hopton SR, Thompson AS.

Biochemistry. 2011 May 17;50(19):4143-54. doi: 10.1021/bi101945a. Epub 2011 Apr 19.

PMID:
21469674

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