Robert McFarland
Robert McFarland
Verifierad e-postadress på ncl.ac.uk - Startsida
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Prevalence of mitochondrial DNA disease in adults
AM Schaefer, R McFarland, EL Blakely, L He, RG Whittaker, RW Taylor, ...
Annals of Neurology: Official Journal of the American Neurological …, 2008
6312008
Mitochondrial diseases
GS Gorman, PF Chinnery, S DiMauro, M Hirano, Y Koga, R McFarland, ...
Nature reviews Disease primers 2 (1), 1-22, 2016
5402016
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
5392015
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
R Horvath, G Hudson, G Ferrari, N Fütterer, S Ahola, E Lamantea, ...
Brain 129 (7), 1674-1684, 2006
3972006
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of …
G Hudson, P Amati-Bonneau, EL Blakely, JD Stewart, L He, AM Schaefer, ...
Brain 131 (2), 329-337, 2008
3942008
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
3322010
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
2802014
A neurological perspective on mitochondrial disease
R McFarland, RW Taylor, DM Turnbull
The Lancet Neurology 9 (8), 829-840, 2010
2782010
The diagnosis of mitochondrial muscle disease
RW Taylor, AM Schaefer, MJ Barron, R McFarland, DM Turnbull
Neuromuscular Disorders 14 (4), 237-245, 2004
2402004
Mitochondrial disease—its impact, etiology, and pathology
R McFarland, RW Taylor, DM Turnbull
Current topics in developmental biology 77, 113-155, 2007
1902007
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m. 3243A> G mutation—implications for diagnosis and management
V Nesbitt, RDS Pitceathly, DM Turnbull, RW Taylor, MG Sweeney, ...
Journal of Neurology, Neurosurgery & Psychiatry 84 (8), 936-938, 2013
1832013
Mutations of the mitochondrial ND1 gene as a cause of MELAS
DM Kirby, R McFarland, A Ohtake, C Dunning, MT Ryan, C Wilson, ...
Journal of medical genetics 41 (10), 784-789, 2004
1822004
Assigning pathogenicity to mitochondrial tRNA mutations: when ‘definitely maybe’is not good enough
R McFarland, JL Elson, RW Taylor, N Howell, DM Turnbull
TRENDS in Genetics 20 (12), 591-596, 2004
1802004
Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation
R McFarland, KM Clark, AAM Morris, RW Taylor, S Macphail, ...
Nature genetics 30 (2), 145-146, 2002
1772002
The neurology of mitochondrial DNA disease
R McFarland, RW Taylor, DM Turnbull
The Lancet Neurology 1 (6), 343-351, 2002
1612002
A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations
JW Yarham, M Al‐Dosary, EL Blakely, CL Alston, RW Taylor, JL Elson, ...
Human mutation 32 (11), 1319-1325, 2011
1602011
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency
R McFarland, DM Kirby, KJ Fowler, A Ohtake, MT Ryan, DJ Amor, ...
Annals of Neurology: Official Journal of the American Neurological …, 2004
1602004
New treatments for mitochondrial disease—no time to drop our standards
G Pfeffer, R Horvath, T Klopstock, VK Mootha, A Suomalainen, S Koene, ...
Nature Reviews Neurology 9 (8), 474-481, 2013
1552013
Mitochondrial tRNA mutations and disease
JW Yarham, JL Elson, EL Blakely, R McFarland, RW Taylor
Wiley Interdisciplinary Reviews: RNA 1 (2), 304-324, 2010
1532010
Mitochondrial disease in adults: a scale to monitor progression and treatment
AM Schaefer, C Phoenix, JL Elson, R McFarland, PF Chinnery, ...
Neurology 66 (12), 1932-1934, 2006
1312006
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Artiklar 1–20