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Items: 22


mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.

Grady JP, Pickett SJ, Ng YS, Alston CL, Blakely EL, Hardy SA, Feeney CL, Bright AA, Schaefer AM, Gorman GS, McNally RJ, Taylor RW, Turnbull DM, McFarland R.

EMBO Mol Med. 2018 May 7. pii: e8262. doi: 10.15252/emmm.201708262. [Epub ahead of print]


Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.

Pickett SJ, Grady JP, Ng YS, Gorman GS, Schaefer AM, Wilson IJ, Cordell HJ, Turnbull DM, Taylor RW, McFarland R.

Ann Clin Transl Neurol. 2018 Feb 7;5(3):333-345. doi: 10.1002/acn3.532. eCollection 2018 Mar.


Translocation Breakpoints Preferentially Occur in Euchromatin and Acrocentric Chromosomes.

Lin CY, Shukla A, Grady JP, Fink JL, Dray E, Duijf PHG.

Cancers (Basel). 2018 Jan 8;10(1). pii: E13. doi: 10.3390/cancers10010013.


Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.

Rocha MC, Rosa HS, Grady JP, Blakely EL, He L, Romain N, Haller RG, Newman J, McFarland R, Ng YS, Gorman GS, Schaefer AM, Tuppen HA, Taylor RW, Turnbull DM.

Ann Neurol. 2018 Jan;83(1):115-130. doi: 10.1002/ana.25127.


Decreased male reproductive success in association with mitochondrial dysfunction.

Martikainen MH, Grady JP, Ng YS, Alston CL, Gorman GS, Taylor RW, McFarland R, Turnbull DM.

Eur J Hum Genet. 2017 Oct;25(10):1162-1164. doi: 10.1038/ejhg.2017.114. Epub 2017 Aug 16.


Cutting edge genomics reveal new insights into tumour development, disease progression and therapeutic impacts in multiple myeloma.

Dutta AK, Hewett DR, Fink JL, Grady JP, Zannettino ACW.

Br J Haematol. 2017 Jul;178(2):196-208. doi: 10.1111/bjh.14649. Epub 2017 May 3. Review.


Dysferlin mutations and mitochondrial dysfunction.

Vincent AE, Rosa HS, Alston CL, Grady JP, Rygiel KA, Rocha MC, Barresi R, Taylor RW, Turnbull DM.

Neuromuscul Disord. 2016 Nov;26(11):782-788. doi: 10.1016/j.nmd.2016.08.008. Epub 2016 Aug 29.


Mitochondrial dysfunction in myofibrillar myopathy.

Vincent AE, Grady JP, Rocha MC, Alston CL, Rygiel KA, Barresi R, Taylor RW, Turnbull DM.

Neuromuscul Disord. 2016 Oct;26(10):691-701. doi: 10.1016/j.nmd.2016.08.004. Epub 2016 Aug 10.


Unique quadruple immunofluorescence assay demonstrates mitochondrial respiratory chain dysfunction in osteoblasts of aged and PolgA(-/-) mice.

Dobson PF, Rocha MC, Grady JP, Chrysostomou A, Hipps D, Watson S, Greaves LC, Deehan DJ, Turnbull DM.

Sci Rep. 2016 Aug 24;6:31907. doi: 10.1038/srep31907.


Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.

Ng YS, Feeney C, Schaefer AM, Holmes CE, Hynd P, Alston CL, Grady JP, Roberts M, Maguire M, Bright A, Taylor RW, Yiannakou Y, McFarland R, Turnbull DM, Gorman GS.

Ann Neurol. 2016 Nov;80(5):686-692. doi: 10.1002/ana.24736. Epub 2016 Sep 19.


Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis.

Rygiel KA, Tuppen HA, Grady JP, Vincent A, Blakely EL, Reeve AK, Taylor RW, Picard M, Miller J, Turnbull DM.

Nucleic Acids Res. 2016 Jun 20;44(11):5313-29. doi: 10.1093/nar/gkw382. Epub 2016 Apr 30.


A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.

Rocha MC, Grady JP, Grünewald A, Vincent A, Dobson PF, Taylor RW, Turnbull DM, Rygiel KA.

Sci Rep. 2015 Oct 15;5:15037. doi: 10.1038/srep15037.


Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease.

Chrysostomou A, Grady JP, Laude A, Taylor RW, Turnbull DM, Lax NZ.

Neuropathol Appl Neurobiol. 2016 Aug;42(5):477-92. doi: 10.1111/nan.12282. Epub 2015 Sep 30.


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.

Eur Heart J. 2016 Aug 21;37(32):2552-9. doi: 10.1093/eurheartj/ehv306. Epub 2015 Jul 17.


Triplex real-time PCR--an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells.

Rygiel KA, Grady JP, Taylor RW, Tuppen HA, Turnbull DM.

Sci Rep. 2015 May 19;5:9906. doi: 10.1038/srep09906.


Mitochondrial donation--how many women could benefit?

Gorman GS, Grady JP, Turnbull DM.

N Engl J Med. 2015 Feb 26;372(9):885-887. doi: 10.1056/NEJMc1500960. Epub 2015 Jan 28.


Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle.

Grady JP, Murphy JL, Blakely EL, Haller RG, Taylor RW, Turnbull DM, Tuppen HA.

PLoS One. 2014 Dec 4;9(12):e114462. doi: 10.1371/journal.pone.0114462. eCollection 2014.


Mitochondrial and inflammatory changes in sporadic inclusion body myositis.

Rygiel KA, Miller J, Grady JP, Rocha MC, Taylor RW, Turnbull DM.

Neuropathol Appl Neurobiol. 2015 Apr;41(3):288-303. doi: 10.1111/nan.12149.


Respiratory chain deficiency in aged spinal motor neurons.

Rygiel KA, Grady JP, Turnbull DM.

Neurobiol Aging. 2014 Oct;35(10):2230-8. doi: 10.1016/j.neurobiolaging.2014.02.027. Epub 2014 Mar 3.


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.

Brain. 2014 Feb;137(Pt 2):323-34. doi: 10.1093/brain/awt321. Epub 2013 Nov 25.


Comparison of mitochondrial mutation spectra in ageing human colonic epithelium and disease: absence of evidence for purifying selection in somatic mitochondrial DNA point mutations.

Greaves LC, Elson JL, Nooteboom M, Grady JP, Taylor GA, Taylor RW, Mathers JC, Kirkwood TB, Turnbull DM.

PLoS Genet. 2012;8(11):e1003082. doi: 10.1371/journal.pgen.1003082. Epub 2012 Nov 15.


Spatial frequency bandwidth of surround suppression tuning curves.

Serrano-Pedraza I, Grady JP, Read JC.

J Vis. 2012 Jun 19;12(6). pii: 24. doi: 10.1167/12.6.24.

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