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Browsing publications by Professor Bobby McFarland

Newcastle AuthorsTitleYearFull text
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
Dr Charlotte Alston
Professor Bobby McFarland
Professor Robert Taylor
The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant2020
Catherine Feeney
Dr Albert Lim
Alex Blain
Alexandra Bright
Professor Robert Taylor
et al.
A case‐comparison study of pregnant women with mitochondrial disease – what to expect?2019
Dr Albert Lim
Karen Baty
Dr Langping He
Sila Hopton
Gavin Falkous
et al.
A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes2019
Dr Heather Moore
Dr Thomas Kelly
Alexandra Bright
Dr Andrew Schaefer
Dr Alasdair Blain
et al.
Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: Importance of correcting for baseline intellectual ability2019
Sunitha Balaraju
Dr Ana Topf
Dr Grace McMacken
Professor Robert Taylor
Professor Rita Horvath
et al.
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant2019
Professor Bobby McFarland
Professor Robert Taylor
Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions2019
Professor Patrick Chinnery
Professor Rita Horvath
Professor Bobby McFarland
Dr Victoria Nesbitt
Dr Hannah Steele
et al.
Diagnosis of 'possible' mitochondrial disease: an existential crisis2019
Dr Hannah Hayhurst
Maria Anagnostou
Helen Bogle
Dr John Grady
Professor Robert Taylor
et al.
Dissecting the neuronal vulnerability underpinning Alpers' syndrome: A clinical and neuropathological study2019
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