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Browsing publications by Professor Bobby McFarland

Newcastle AuthorsTitleYearFull text
Dr Kyle Thompson
Professor Bobby McFarland
Professor Robert Taylor
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment2025
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
Professor Grainne Gorman
Professor Bobby McFarland
Dr Aye Moe
Dr Yi Ng
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey2025
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
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
Hatem Jouda
Andrew Browning
Professor Bobby McFarland
Dr Sarah Pickett
Dr Helen Devine
Macular OCT inner retinal changes reflect CNS involvement in m.3243A>G disease2025
Dr Louise Hyslop
Dr Magomet Aushev
Jordan Marley
Dr Yuko Takeda
Dr Angela Pyle
et al.		Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease2025
Professor Bobby McFarland
Dr Louise Hyslop
Catherine Feeney
Dr Matthew Prior
Dr Anita Devlin
et al.		Mitochondrial Donation in a Reproductive Care Pathway for mtDNA Disease2025
Dr Jon Meyrick
Dr Renae Stefanetti
Linda Errington
Professor Bobby McFarland
Professor Grainne Gorman
et al.		Model systems informing mechanisms and drug discovery: a review of POLG-related disease models2025
Dr Chiara Pizzamiglio
Dr Renae Stefanetti
Professor Bobby McFarland
Dr Naomi Thomas
Professor Michael Hanna
et al.		Optimizing rare disorder trials: A phase 1a/1b randomized study of KL1333 in adults with mitochondrial disease2025
Professor Bobby McFarland
Professor Robert Taylor
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases2025
Professor Bobby McFarland
Professor Robert Taylor
Krutik Patel
Dr Mahmoud Fassad
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study2024
Professor Robert Taylor
Professor Bobby McFarland
Dr Anita Devlin
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke2024
Dr Sarah Pickett
Professor Robert Taylor
Professor Bobby McFarland
Fit for purpose: Selecting the best mitochondrial DNA for the job2024
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