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Browsing publications by Professor Robert Taylor

Newcastle AuthorsTitleYearFull text
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
Lucie Taylor
Dr Langping He
Sila Hopton
Dr Angela Pyle
Professor Robert Taylor
COA5 has an essential role in the early stage of mitochondrial complex IV assembly2025
Dr Andrew Schaefer
Professor Robert Taylor
Corrigendum to “Genetic Analysis and multimodal imaging confirm m.12148 T>C mitochondrial variant pathogenicity leading to multisystem dysfunction” [Molecular Genetics and Metabolism 144 (2025); 109049]2025
Dr Laura Alexandra Smith
Dr Elizaveta Olkhova
Dr Nichola Lax
Dr Yi Ng
Professor Robert Taylor
et al.		Delineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease2025
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 Disease2025
Dr Andrew Schaefer
Professor Robert Taylor
Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction2025
Lucie Taylor
Professor Robert Taylor
Dr Charlotte Alston
Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model2025
Sila Hopton
Dr Langping He
Dr Charlotte Alston
Professor Robert Taylor
Dr Ana Topf
et al.		Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland2025
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