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Browsing publications by Professor Robert Taylor

Newcastle AuthorsTitleYearFull text
Dr James Lambton
Dr Thomas McCorvie
Professor Bobby McFarland
Professor Wyatt Yue
Dr Monika Olahova
et al.		Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder2026
Professor Robert Taylor
Biallelic variants in CHCHD4 are associated with combined OXPHOS defect leading to mitochondrial disease2026
Dr Mahmoud Fassad
Dr Monika Olahova
Dr Jack Collier
Charlotte Knowles
Eleni Mavraki
et al.		Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease2026
Professor Wyatt Yue
Professor Robert Taylor
Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 542026
Dr Charlotte Alston
Dr Daria Diodato
Dr Albert Lim
Professor Bobby McFarland
Professor Robert Taylor
Neurological manifestations and genotype–phenotype correlations in NDUFAF6-associated mitochondrial disease2026
Professor Bobby McFarland
Professor Robert Taylor
Ophthalmic manifestations of mitochondrial disorders2026
Professor Bobby McFarland
Professor Robert Taylor
TTC19-related mitochondrial complex III deficiency: Clinical and genetic characterization of 10 patients from 5 unrelated Arab families2026
Professor Robert Taylor
Dr Andrew Schaefer
A rare cause of autosomal recessive ataxia with very late diagnosis and prolonged disease course2025
Professor Wyatt Yue
Professor Robert Taylor
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series2025
Dr Kyle Thompson
Professor Bobby McFarland
Professor Robert Taylor
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment2025
Dr Charlotte Alston
Professor Robert Taylor
Professor Hanns Lochmuller
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome2025
Dr Monika Olahova
Dr Kyle Thompson
Dr Langping He
Professor Robert Taylor
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency2025
Dr Mahmoud Fassad
Dr Krutik Patel
Professor Michael Hanna
Professor Robert Taylor
Professor Bobby McFarland
Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort2025
Dr Kyle Thompson
Dr Monika Olahova
Dr Langping He
Professor Wyatt Yue
Professor Robert Taylor
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype2025
Dr Angela Pyle
Dr Fiona Robertson
Professor Robert Taylor
Professor Bobby McFarland
Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion2025
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