Browsing publications by Professor Bobby McFarland

Newcastle AuthorsTitleYearFull text
Dr Francesco Bruni
Professor Bobby McFarland
Professor Zofia Chrzanowska-Lightowlers
Dr Langping He
Professor Robert Taylor
et al.
Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease2018
Dr Yi Ng
Professor Bobby McFarland
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection2017
Dr Ewen Sommerville
Dr Yi Ng
Dr Charlotte Alston
Dr Langping He
Charlotte Knowles
et al.
Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy2017
Dr Patrick Yu Wai Man
Professor Bobby McFarland
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project2017
Ewen Sommerville
Dr Charlotte Alston
Dr Angela Pyle
Dr Langping He
Gavin Falkous
et al.
De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities2017
Dr Charlotte Alston
Charlotte Knowles
Professor Robert Taylor
Professor Bobby McFarland
De novo mtDNA point mutations are common and have a low recurrence risk2017
Dr Mika Martikainen
Dr John Grady
Dr Yi Ng
Dr Charlotte Alston
Dr Grainne Gorman
et al.
Decreased male reproductive success in association with mitochondrial dysfunction2017
Dr Charalampos Tzoulis
Professor Bobby McFarland
Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease2017
Professor Bobby McFarland
Professor Laurence Bindoff
Dr Grainne Gorman
Professor Rita Horvath
Professor Doug Turnbull
et al.
International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy2017
Ruth Glasgow
Dr Kyle Thompson
Dr Langping He
Dr Charlotte Alston
Professor Bobby McFarland
et al.
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits2017
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