Browsing publications by Dr Bobby McFarland

Newcastle AuthorsTitleYearFull text
Mika Martikainen
Dr Yi Ng
Dr Grainne Gorman
Charlotte Alston
Dr Andrew Schaefer
et al.
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease2016
Dr Kyle Thompson
Charlotte Alston
Dr Langping He
Dr Angela Pyle
Dr Helen Griffin
et al.
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies2016
Dr Yi Ng
Dr Grainne Gorman
Dr Bobby McFarland
Solid organ transplantation in primary mitochondrial disease: Proceed with caution2016
Dr Bobby McFarland
Professor Robert Taylor
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients2016
Dr Monika Olahova
Dr Steven Hardy
Dr John Yarham
William Wilson
Charlotte Alston
et al.
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population2015
Dr Yi Ng
Dr Roger Whittaker
Dr Bobby McFarland
Professor Doug Turnbull
Dr Grainne Gorman
et al.
A clinical audit of acute management of stroke-like episodes from a national mitochondrial disease centre2015
Charlotte Alston
Dr Monika Olahova
Dr Langping He
Dr Bobby McFarland
Professor Robert Taylor
et al.
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency2015
Dr Monika Olahova
Charlotte Alston
Jess Houghton
Dr Langping He
Dr Andrew Morris
et al.
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency2015
Dr Francesco Bruni
Dr Bobby McFarland
Professor Robert Taylor
ABAT is a novel human mitochondrial DNA depletion syndrome gene linking gamma-aminobutyric acid (GABA) catabolism and mitochondrial nucleoside metabolism2015
Professor Robert Taylor
Dr Bobby McFarland
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations2015
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