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Browsing publications by Professor Robert Taylor

Newcastle AuthorsTitleYearFull text
Catherine Feeney
Dr Albert Lim
Alex Blain
Alexandra Bright
Professor Robert Taylor
et al.
A case‐comparison study of pregnant women with mitochondrial disease – what to expect?2019
Steven Hardy
Sila Hopton
Gavin Falkous
Professor Robert Taylor
A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy2019
Dr Albert Lim
Karen Baty
Dr Langping He
Sila Hopton
Gavin Falkous
et al.
A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes2019
Charlotte Zierz
Karen Baty
Sila Hopton
Gavin Falkous
Dr Andrew Schaefer
et al.
A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia2019
Dr Heather Moore
Dr Thomas Kelly
Alexandra Bright
Dr Andrew Schaefer
Dr Alasdair Blain
et al.
Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: Importance of correcting for baseline intellectual ability2019
Sunitha Balaraju
Dr Ana Topf
Dr Grace McMacken
Professor Robert Taylor
Professor Rita Horvath
et al.
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant2019
Professor Bobby McFarland
Professor Robert Taylor
Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions2019
Dr Veronika Boczonadi
Dr Monika Olahova
Dr Boglárka Bánsági
Dr Andreas Roos
Dr Vankateswara Ramesh
et al.
Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease (Genetics in Medicine, (2018), 20, 10, (1224-1235), 10.1038/gim.2017.251)2019
Dr Hannah Hayhurst
Maria Anagnostou
Helen Bogle
Dr John Grady
Professor Robert Taylor
et al.
Dissecting the neuronal vulnerability underpinning Alpers' syndrome: A clinical and neuropathological study2019
Dr Rachel Boal
Dr Yi Ng
Dr Sarah Pickett
Dr Andrew Schaefer
Catherine Feeney
et al.
Height as a clinical biomarker of disease burden in adult mitochondrial disease2019
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