关注
Grainne S Gorman
Grainne S Gorman
Wellcome Trust Centre for Mitochondrial Research, ION, Newcastle University
在 ncl.ac.uk 的电子邮件经过验证
标题
引用次数
引用次数
年份
Mitochondrial diseases
GS Gorman, PF Chinnery, S DiMauro, M Hirano, Y Koga, R McFarland, ...
Nature reviews Disease primers 2 (1), 1-22, 2016
14322016
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
9602015
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
4492010
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
3832008
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
3802014
Mitochondrial diseases: hope for the future
OM Russell, GS Gorman, RN Lightowlers, DM Turnbull
Cell 181 (1), 168-188, 2020
3212020
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
2282018
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
2062005
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
2032016
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
1752014
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
1342018
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
1322021
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
1312014
The minimum prevalence of CADASIL in northeast England
SK Narayan, G Gorman, RN Kalaria, GA Ford, PF Chinnery
Neurology 78 (13), 1025-1027, 2012
1242012
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
1212012
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
1192018
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
1142011
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
1082018
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
1012012
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
1012010
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