Browsing publications by Professor Bobby McFarland

Newcastle AuthorsTitleYearFull text
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
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
Charlotte Alston
Dr Angela Pyle
Dr Langping He
Gavin Falkous
et al.
De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities2017
Charlotte Alston
Charlotte Knowles
Professor Robert Taylor
Professor Bobby McFarland
De novo mtDNA point mutations are common and have a low recurrence risk2017
Dr Charalampos Tzoulis
Professor Bobby McFarland
Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease2017
Ruth Glasgow
Dr Kyle Thompson
Dr Langping He
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
Dr Monika Olahova
Dr Kyle Thompson
Dr Steven Hardy
Maria-Eleni Anagnostou
Dr Kathryn White
et al.
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria2017
Professor Bobby McFarland
The presence of anaemia negatively influences survival in patients with POLG disease2017
Professor Robert Taylor
Professor Bobby McFarland
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors2017
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