Grainne S Gorman
Grainne S Gorman
Wellcome Trust Centre for Mitochondrial Research, ION, Newcastle University
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Cited by
Cited by
Mitochondrial diseases
GS Gorman, PF Chinnery, S DiMauro, M Hirano, Y Koga, R McFarland, ...
Nature reviews Disease primers 2 (1), 1-22, 2016
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
GS Gorman, AM Schaefer, Y Ng, N Gomez, EL Blakely, CL Alston, ...
Annals of neurology 77 (5), 753-759, 2015
Multi-system neurological disease is common in patients with OPA1 mutations
P Yu-Wai-Man, PG Griffiths, GS Gorman, CM Lourenco, AF Wright, ...
Brain 133 (3), 771-786, 2010
Progressive encephalomyelitis, rigidity, and myoclonus: a novel glycine receptor antibody
M Hutchinson, P Waters, J McHugh, G Gorman, S O’riordan, S Connolly, ...
Neurology 71 (16), 1291-1292, 2008
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
RW Taylor, A Pyle, H Griffin, EL Blakely, J Duff, L He, T Smertenko, ...
Jama 312 (1), 68-77, 2014
Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history
RT Murphy, J Mogensen, K McGarry, A Bahl, A Evans, E Osman, P Syrris, ...
Journal of the American College of Cardiology 45 (6), 922-930, 2005
Mitochondrial diseases: hope for the future
OM Russell, GS Gorman, RN Lightowlers, DM Turnbull
Cell 181 (1), 168-188, 2020
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
G Pfeffer, GS Gorman, H Griffin, M Kurzawa-Akanbi, EL Blakely, I Wilson, ...
Brain 137 (5), 1323-1336, 2014
mt DNA heteroplasmy level and copy number indicate disease burden in m. 3243A> G mitochondrial disease
JP Grady, SJ Pickett, YS Ng, CL Alston, EL Blakely, SA Hardy, CL Feeney, ...
EMBO molecular medicine 10 (6), e8262, 2018
The spectrum of mitochondrial ultrastructural defects in mitochondrial myopathy
AE Vincent, YS Ng, K White, T Davey, C Mannella, G Falkous, C Feeney, ...
Scientific reports 6 (1), 1-12, 2016
Disease progression in patients with single, large-scale mitochondrial DNA deletions
JP Grady, G Campbell, T Ratnaike, EL Blakely, G Falkous, V Nesbitt, ...
Brain 137 (2), 323-334, 2014
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3
R Horvath, B Czermin, S Gulati, S Demuth, G Houge, A Pyle, C Dineiger, ...
Journal of Neurology, Neurosurgery & Psychiatry 83 (2), 174-178, 2012
The minimum prevalence of CADASIL in northeast England
SK Narayan, G Gorman, RN Kalaria, GA Ford, PF Chinnery
Neurology 78 (13), 1025-1027, 2012
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene
P Reilich, R Horvath, S Krause, N Schramm, DM Turnbull, M Trenell, ...
Journal of neurology 258 (11), 1987-1997, 2011
Topoisomerase 3α is required for decatenation and segregation of human mtDNA
TJ Nicholls, CA Nadalutti, E Motori, EW Sommerville, GS Gorman, S Basu, ...
Molecular cell 69 (1), 9-23. e6, 2018
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO
C Fratter, GS Gorman, JD Stewart, M Buddles, C Smith, J Evans, A Seller, ...
Neurology 74 (20), 1619-1626, 2010
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
RDS Pitceathly, C Smith, C Fratter, CL Alston, L He, K Craig, EL Blakely, ...
Brain 135 (11), 3392-3403, 2012
Mitochondrial donation—how many women could benefit?
GS Gorman, JP Grady, Y Ng, AM Schaefer, RJ McNally, PF Chinnery, ...
New England Journal of Medicine 372 (9), 885-887, 2015
Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial
K Okkersen, C Jimenez-Moreno, S Wenninger, F Daidj, J Glennon, ...
The Lancet Neurology 17 (8), 671-680, 2018
Retrospective natural history of thymidine kinase 2 deficiency
C Garone, RW Taylor, A Nascimento, J Poulton, C Fratter, ...
Journal of medical genetics 55 (8), 515-521, 2018
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