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Browsing publications by Professor Bobby McFarland

Newcastle AuthorsTitleYearFull text
Dr Albert Lim
Dr Grace McMacken
Francesca Rastelli
Dr Monika Olahova
Karen Baty
et al.
A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features2020
Ahmad Alahmad
Dr Kyle Thompson
Dr Monika Olahova
Dr Langping He
Dr Charlotte Alston
et al.
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I2020
Dr Charlotte Alston
Marie Appleton
Dr Yi Ng
Dr Grainne Gorman
Professor Bobby McFarland
et al.
Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion2020
Catherine Feeney
Dr Grainne Gorman
Dr Renae Stefanetti
Professor Bobby McFarland
Emeritus Professor Doug Turnbull
et al.
Lower urinary tract dysfunction in adult patients with mitochondrial disease2020
Dr Renae Stefanetti
Dr Alasdair Blain
Dr Cecilia Jimenez Moreno
Linda Errington
Dr Yi Ng
et al.
Measuring the effects of exercise in neuromuscular disorders: A systematic review and meta-analyses [version 1; peer review: 2 approved]2020
Dr Charlotte Alston
Lucie Taylor
Dr Langping He
Sila Hopton
Professor Bobby McFarland
et al.
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency2020
Dr Kyle Thompson
Jack Collier
Ruth Glasgow
Dr Fiona Robertson
Dr Angela Pyle
et al.
Recent advances in understanding the molecular genetic basis of mitochondrial disease2020
Professor Bobby McFarland
Professor Robert Taylor
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey2020
Millie Fullerton
Professor Bobby McFarland
Professor Robert Taylor
Dr Charlotte Alston
The genetic basis of isolated mitochondrial complex II deficiency2020
Dr Charlotte Alston
Professor Bobby McFarland
Professor Robert Taylor
The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant2020
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