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Robert McFarland

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TOP 3
Jennifer L Read; Robert Taylor; Sue Clark; Robert McFarland; Nick Miller; Roger G Whittaker; Douglass Turnbull
Prevalence and severity of voice and swallowing difficulties in mitochondrial disease.
Mazhor Al-Dosary; Roger G Whittaker; Joanna Haughton; Robert McFarland; Judith Goodship; Douglass M Turnbull; Robert W Taylor
Neuromuscular disease presentation with three genetic defects involving two genomes.
H Aitken; G Gorman; Robert McFarland; M Roberts; R W Taylor; Douglass M Turnbull
Clinical reasoning: Blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease.

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All Publications

2012: Jennifer L Read; Robert Taylor; Sue Clark; Robert McFarland; Nick Miller; Roger G Whittaker; Douglass Turnbull
Prevalence and severity of voice and swallowing difficulties in mitochondrial disease.
International journal of language & communication disorders / Royal College of Speech & Language Therapists 2012;47(1):106-11.
2009: Mazhor Al-Dosary; Roger G Whittaker; Joanna Haughton; Robert McFarland; Judith Goodship; Douglass M Turnbull; Robert W Taylor
Neuromuscular disease presentation with three genetic defects involving two genomes.
Neuromuscular disorders : NMD 2009;19(12):841-4.
2009: H Aitken; G Gorman; Robert McFarland; M Roberts; R W Taylor; Douglass M Turnbull
Clinical reasoning: Blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease.
Neurology 2009;72(18):e86-90.
2009: Robert McFarland; Douglass M Turnbull
Batteries not included: diagnosis and management of mitochondrial disease.
Journal of internal medicine 2009;265(2):210-28.
2008: Joanna Rorbach; Abdul Aziz Yusoff; Helen Tuppen; Dyg P Abg-Kamaludin; Zofia M A Chrzanowska-Lightowlers; Robert W Taylor; Douglass M Turnbull; Robert McFarland; Robert N Lightowlers
Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation.
Nucleic acids research 2008;36(9):3065-74.
2008: Robert McFarland; Gavin Hudson; Robert W Taylor; S H Green; S Hodges; P J McKiernan; Patrick F Chinnery; V Ramesh
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1).
Archives of disease in childhood 2008;93(2):151-3.
2008: Gavin Hudson; Patrizia Amati-Bonneau; Emma L Blakely; Joanna D Stewart; Langping He; Andrew M Schaefer; Philip G Griffiths; Kati Ahlqvist; Anu Suomalainen; Pascal Reynier; Robert McFarland; Douglass M Turnbull; Patrick F Chinnery; Robert W Taylor
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
Brain : a journal of neurology 2008;131(Pt 2):329-37.
2008: H A L Tuppen; Fabiana Fattori; Rosalba Carrozzo; Massimo Zeviani; Salvatore DiMauro; S Seneca; J E Martindale; S E Olpin; E P Treacy; Robert McFarland; Filippo M Santorelli; Robert W Taylor
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations.
Journal of medical genetics 2008;45(1):55-61.
2008: Andrew M Schaefer; Robert McFarland; Emma L Blakely; Langping He; Roger G Whittaker; Robert W Taylor; Patrick F Chinnery; Douglass M Turnbull
Prevalence of mitochondrial DNA disease in adults.
Annals of neurology 2008;63(1):35-9.
2008: Robert McFarland; Helen Swalwell; Emma L Blakely; Langping He; Emma J Groen; Douglass M Turnbull; K M D Bushby; Robert W Taylor
The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy.
Neuromuscular disorders : NMD 2008;18(1):63-7.
2007: Roger G Whittaker; Andrew M Schaefer; Robert McFarland; Robert W Taylor; Mark Walker; Douglass M Turnbull
Prevalence and progression of diabetes in mitochondrial disease.
Diabetologia 2007;50(10):2085-9.
2007: Roger G Whittaker; Andrew M Schaefer; Robert McFarland; Robert W Taylor; Mark Walker; Douglass M Turnbull
Diabetes and deafness: is it sufficient to screen for the mitochondrial 3243A>G mutation alone?
Diabetes care 2007;30(9):2238-9.
2007: Emma L Blakely; Helen Swalwell; R K H Petty; Robert McFarland; Douglass M Turnbull; Robert W Taylor
Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation.
Journal of neurology 2007;254(9):1283-5.
2007: Robert McFarland; Patrick F Chinnery; Emma L Blakely; Andrew M Schaefer; Andrew A M Morris; S M Foster; H A L Tuppen; V Ramesh; P J Dorman; Douglass M Turnbull; Robert W Taylor
Homoplasmy, heteroplasmy, and mitochondrial dystonia.
Neurology 2007;69(9):911-6.
2007: Robert McFarland; Robert W Taylor; Douglass M Turnbull
Mitochondrial disease--its impact, etiology, and pathology.
Current topics in developmental biology 2007;77():113-55.
2006: C Phoenix; Andrew M Schaefer; Joanna Elson; Eva Morava; M Bugiani; Graziella Uziel; Jan A M Smeitink; Douglass M Turnbull; Robert McFarland
A scale to monitor progression and treatment of mitochondrial disease in children.
Neuromuscular disorders : NMD 2006;16(12):814-20.
2006: Andrew M Schaefer; C Phoenix; Joanna Elson; Robert McFarland; Patrick F Chinnery; Douglass M Turnbull
Mitochondrial disease in adults: a scale to monitor progression and treatment.
Neurology 2006;66(12):1932-4.
2004: Robert McFarland; Joanna Elson; Robert W Taylor; Neil Howell; Douglass M Turnbull
Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough.
Trends in genetics : TIG 2004;20(12):591-6.
2004: Robert McFarland; R W Taylor; Joanna Elson; R N Lightowlers; D M Turnbull; Neil Howell
Proving pathogenicity: when evolution is not enough.
American journal of medical genetics. Part A 2004;131(1):107-8; author reply 109-10.
2004: Emma L Blakely; Joanna Poulton; Michael Pike; Fenella Wojnarowska; Douglass M Turnbull; Robert McFarland; Robert W Taylor
Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation.
Journal of the neurological sciences 2004;225(1-2):99-103.
2004: Denise M Kirby; Robert McFarland; Akira Ohtake; C Dunning; Michael T Ryan; C Wilson; D Ketteridge; Douglass M Turnbull; David R Thorburn; Robert W Taylor
Mutations of the mitochondrial ND1 gene as a cause of MELAS.
Journal of medical genetics 2004;41(10):784-9.
2004: Martina T McDonnell; Andrew M Schaefer; Emma L Blakely; Robert McFarland; Patrick F Chinnery; Douglass M Turnbull; Robert W Taylor
Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.
European journal of human genetics : EJHG 2004;12(9):778-81.
2004: Robert W Taylor; Andrew M Schaefer; Martina T McDonnell; R K H Petty; A M Thomas; Emma L Blakely; Christine M Hayes; Robert McFarland; Douglass M Turnbull
Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.
Neurology 2004;62(8):1420-3.
2004: Robert McFarland; Andrew M Schaefer; Julie L Gardner; Stephen Lynn; Christine M Hayes; Martin J Barron; Mark Walker; Patrick F Chinnery; Robert W Taylor; Douglass M Turnbull
Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.
Annals of neurology 2004;55(4):478-84.
2004: Robert W Taylor; Andrew M Schaefer; Martin J Barron; Robert McFarland; Douglass M Turnbull
The diagnosis of mitochondrial muscle disease.
Neuromuscular disorders : NMD 2004;14(4):237-45.
2004: Robert McFarland; Robert W Taylor; Patrick F Chinnery; Neil Howell; Douglass M Turnbull
A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis.
Neuromuscular disorders : NMD 2004;14(2):162-6.
2004: Robert McFarland; Denise M Kirby; Kerry J Fowler; Akira Ohtake; Michael T Ryan; David J Amor; Janice M Fletcher; Joanne W Dixon; Felicity A Collins; Douglass M Turnbull; Robert W Taylor; David R Thorburn
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
Annals of neurology 2004;55(1):58-64.
2002: Robert McFarland; Robert W Taylor; Douglass M Turnbull
The neurology of mitochondrial DNA disease.
Lancet neurology 2002;1(6):343-51.
2002: Robert W Taylor; Andrew M Schaefer; Robert McFarland; Paul Maddison; Douglass M Turnbull
A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy.
Neuromuscular disorders : NMD 2002;12(7-8):659-664.
2002: Robert McFarland; Kim M Clark; Andrew A M Morris; Robert W Taylor; Sheila Macphail; Robert N Lightowlers; Douglass M Turnbull
Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.
Nature genetics 2002;30(2):145-6.