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Browsing publications by Professor Robert Taylor

Newcastle AuthorsTitleYearFull text
Professor Robert Taylor
A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency2020
Professor Robert Taylor
Albinism and a mitochondrial DNA deletion2020
Dr Francesco Bruni
Dr Langping He
Professor Robert Taylor
Professor Zofia Chrzanowska-Lightowlers
Biallelic Mutations in MTPAP Associated with a Lethal Encephalophy2020
Professor Robert Taylor
FBXL4 deficiency increases mitochondrial removal by autophagy2020
Dr Hannah Steele
Dr Angela Pyle
Sila Hopton
Jane Newman
Dr Renae Stefanetti
et al.		Metabolic effects of bezafibrate in mitochondrial disease.2020
Dr Joanna Elson
Professor Robert Taylor
Mitochondrial DNA mutations induce mitochondrial biogenesis and increase the tumorigenic potential of Hodgkin and Reed–Sternberg cells2020
Dr Yi Ng
Dr Kyle Thompson
Daniela Loher
Sila Hopton
Gavin Falkous
et al.		Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency2020
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
Karen Baty
Sila Hopton
Dr Isabell Cordts
Gavin Falkous
Professor Robert Taylor
et al.		Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant2020
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
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