Browse by Author

Browse by Year

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
Charlotte Alston
Charlotte Knowles
Professor Robert Taylor
Professor Bobby McFarland
De novo mtDNA point mutations are common and have a low recurrence risk2017
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
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 Langping He
Professor Bobby McFarland
Professor Robert Taylor
Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: A case report2016
Maria Anagnostou
Dr Yi Ng
Professor Robert Taylor
Professor Bobby McFarland
Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review2016
Professor Bobby McFarland
Professor Robert Taylor
Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure2016
Professor Bobby McFarland
International Paediatric Mitochondrial Disease Scale2016
123456789101112131415161718