P39. Assigning pathogenicity to three novel mt-tRNA mutations associated with different mitochondrial disease presentations
Lehmann, D, Schubert, K, Joshi, P.R, Baty, K, Blakely, E.L, Hardy, S, Bamberg, C, Zierz, S, Taylor, R.W, Deschauer, M
Published in Clinical neurophysiology (01.08.2015)
Published in Clinical neurophysiology (01.08.2015)
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Journal Article
P54 MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle
Blakely, E.L, Butterworth, A, Hadden, R.D.M, Bodi, I, He, L, McFarland, R, Taylor, R.W
Published in Neuromuscular disorders : NMD (01.03.2012)
Published in Neuromuscular disorders : NMD (01.03.2012)
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Journal Article
P32 Mutations in SPG7 cause chronic progressive external ophthalmoplegia through disordered mtDNA maintenance
Gorman, G.S, Pfeffer, G, Griffin, H, Kurzawa-Akanbi, M, Blakely, E.L, Wilson, I, Sitarz, K, Moore, D, Murphy, J.L, Alston, C.L, Pyle, A, Coxhead, J, Payne, B, Gorrie, G.H, Longman, C, Hadjivassiliou, M, McConville, J, Dick, D, Imam, I, Hilton, D, Norwood, F, Baker, M.R, Jaiser, S.R, Yu-Wai-Man, P, Farrell, M, McCarthy, A, Lynch, T, McFarland, R, Schaefer, A.M, Turnbull, D.M, Horvath, R, Taylor, R.W, Chinnery, P.F
Published in Neuromuscular disorders : NMD (01.03.2014)
Published in Neuromuscular disorders : NMD (01.03.2014)
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Journal Article
C.O.2 DNM2 mutations cause multiple mtDNA deletions in muscle: A novel disorder of mtDNA maintenance
Krishnan, K.J, Nelson, G, Romero, N.B, Ratnaike, T, Blakely, E.L, Ziyadeh-Isleem, A, Miller, J, Murphy, J.L, Horvath, R, Lochmuller, H, Flanigan, K, Turnbull, D.M, Guicheney, P, Bitoun, M, Taylor, R.W
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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Journal Article
P61 Resistance training in patients with mitochondrial myopathy
Murphy, J.L, Newman, J, Ratnaike, T.E, Spendiff, S, Falkous, G, Blakely, E.L, Alston, C.L, Taylor, R.W, Trenell, M.I, Gorman, G.S, Turnbull, D.M
Published in Neuromuscular disorders : NMD (01.03.2012)
Published in Neuromuscular disorders : NMD (01.03.2012)
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Journal Article
P60 Expanding the phenotypic and genotypic spectrum of adult RRM2B -related mitochondrial disease
Piceathly, R.D.S, Smith, C, Fratter, C, Blakely, E.L, Alston, C.L, Deschauer, M, Horvath, R, Hanna, M.G, Chinnery, P.F, Turnbull, D.M, Poulton, J, Taylor, R.W, Gorman, G.S
Published in Neuromuscular disorders : NMD (01.03.2012)
Published in Neuromuscular disorders : NMD (01.03.2012)
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Journal Article
P62 Long term endurance training and deconditioning in patients with mitochondrial myopathy
Murphy, J.L, Ratnaike, T.E, Shang, E, Falkous, G, Blakely, E.L, Alston, C.L, Hickman, K, Chanter, H, Taivassalo, T, Haller, R.G, Taylor, R.W, Turnbull, D.M
Published in Neuromuscular disorders : NMD (01.03.2012)
Published in Neuromuscular disorders : NMD (01.03.2012)
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Journal Article
P59 Respiratory chain complex I deficiency caused by mitochondrial DNA mutations
Taylor, R.W, Swalwell, H, Kirby, D.M, Blakely, E.L, Mitchell, A, Salemi, R, Sugiana, C, Compton, A.G, Tucker, E.J, Ke, B.-X, Lamont, P.J, Turnbull, D.M, McFarland, R, Thorburn, D.R
Published in Neuromuscular disorders : NMD (2011)
Published in Neuromuscular disorders : NMD (2011)
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Journal Article
P4.60 Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation
Tuppen, H.A.L, Fehmi, J, Czermin, B, Goffrini, P, Meloni, F, Ferrero, I, He, L, Blakely, E.L, McFarland, R, Horvath, R, Turnbull, D.M, Taylor, R.W
Published in Neuromuscular disorders : NMD (01.10.2010)
Published in Neuromuscular disorders : NMD (01.10.2010)
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Journal Article
G.P.3.03 Recurrent mutations in the NDUFS2 gene causing isolated complex I deficiency in skeletal muscle
McFarland, R, Tuppen, H, He, L, Blakely, E.L, Morris, A.A.M, Clarke, M, Jones, S, Devlin, A.M, Taylor, R.W
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
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Journal Article
P60 Dominant and recessive RRM2B mutations cause familial PEO and multiple nit DNA deletions in muscle
Fratter, C, Raman, P, Alston, C, Blakely, E.L, Craig, K, Smith, C, Evans, J, Seller, A, Czermin, B, Hanna, M.G, Poulton, J, Brierley, C, Staunton, T.G, Turnpenny, P.D, Schaefer, A.M, Chinnery, P.F, Horvath, R, Turnbull, D.M, Gorman, G.S, Taylor, R.W
Published in Neuromuscular disorders : NMD (2011)
Published in Neuromuscular disorders : NMD (2011)
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Journal Article
G.P.3.03 A histochemical and molecular genetic investigation of the selective, extraocular muscle involvement in chronic progressive external ophthalmoplegia
Taylor, R.W, Greaves, L.C, Krishnan, K.J, Kerin, J, Barron, M.J, Blakely, E.L, Griffiths, P.G, Turnbull, D.M
Published in Neuromuscular disorders : NMD (01.10.2008)
Published in Neuromuscular disorders : NMD (01.10.2008)
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Journal Article
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO
Fratter, C, Gorman, G S, Stewart, J D, Buddles, M, Smith, C, Evans, J, Seller, A, Poulton, J, Roberts, M, Hanna, M G, Rahman, S, Omer, S E, Klopstock, T, Schoser, B, Kornblum, C, Czermin, B, Lecky, B, Blakely, E L, Craig, K, Chinnery, P F, Turnbull, D M, Horvath, R, Taylor, R W
Published in Neurology (18.05.2010)
Published in Neurology (18.05.2010)
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Journal Article
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions
Fratter, C, Raman, P, Alston, C L, Blakely, E L, Craig, K, Smith, C, Evans, J, Seller, A, Czermin, B, Hanna, M G, Poulton, J, Brierley, C, Staunton, T G, Turnpenny, P D, Schaefer, A M, Chinnery, P F, Horvath, R, Turnbull, D M, Gorman, G S, Taylor, R W
Published in Neurology (07.06.2011)
Published in Neurology (07.06.2011)
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Journal Article
Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age
Cottrell, D.A., Blakely, E.L., Johnson, M.A., Ince, P.G., Borthwick, G.M., Turnbull, D.M.
Published in Neurobiology of aging (01.03.2001)
Published in Neurobiology of aging (01.03.2001)
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Journal Article
Conference Proceeding
Cytochrome c oxidase deficient muscle fibres: Substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy
Barron, M.J., Chinnery, P.F., Howel, D., Blakely, E.L., Schaefer, A.M., Taylor, R.W., Turnbull, D.M.
Published in Neuromuscular disorders : NMD (01.11.2005)
Published in Neuromuscular disorders : NMD (01.11.2005)
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Journal Article