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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
Dr Albert Lim
Dr Grace McMacken
Francesca Rastelli
Dr Monika Olahova
Karen Baty
et al.
A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features2020
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
Professor Robert Taylor
Professor Michael Hanna
Dr Robert Pitceathly
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant2020
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