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Grainne S Gorman
Grainne S Gorman
Wellcome Trust Centre for Mitochondrial Research, ION, Newcastle University
Verified email at ncl.ac.uk
Title
Cited by
Cited by
Year
Mitochondrial diseases
GS Gorman, PF Chinnery, S DiMauro, M Hirano, Y Koga, R McFarland, ...
Nature reviews Disease primers 2 (1), 1-22, 2016
15442016
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
10052015
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
4572010
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
4012008
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
3962014
Mitochondrial diseases: hope for the future
OM Russell, GS Gorman, RN Lightowlers, DM Turnbull
Cell 181 (1), 168-188, 2020
3512020
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
2472018
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), 30610, 2016
2142016
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
2102005
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
1782014
Mitochondrial disease in adults: recent advances and future promise
YS Ng, LA Bindoff, GS Gorman, T Klopstock, C Kornblum, M Mancuso, ...
The Lancet Neurology 20 (7), 573-584, 2021
1532021
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
1442018
The minimum prevalence of CADASIL in northeast England
SK Narayan, G Gorman, RN Kalaria, GA Ford, PF Chinnery
Neurology 78 (13), 1025-1027, 2012
1352012
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
1342014
Phenotypic heterogeneity in m. 3243A> G mitochondrial disease: the role of nuclear factors
SJ Pickett, JP Grady, YS Ng, GS Gorman, AM Schaefer, IJ Wilson, ...
Annals of clinical and translational neurology 5 (3), 333-345, 2018
1262018
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
1222012
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, 1987-1997, 2011
1162011
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
1112018
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
1062012
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
1042018
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