Publications by Dr Robert Pitceathly - ePrints

Browsing publications by Dr Robert Pitceathly.

Newcastle Authors	Title	Year
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 disease	2025
Dr William Macken Dr Mahmoud Fassad Dr Fei Gao Krutik Patel Dr Ana Topf et al.	Neuromuscular disease genetics in under-represented populations: increasing data diversity	2023
Dr Chiara Pizzamiglio Dr Rhys Thomas Professor Grainne Gorman Professor Bobby McFarland Professor Michael Hanna et al.	COVID-19-Related Outcomes in Primary Mitochondrial Diseases: An International Study	2022
Dr Yi Ng Dr Nichola Lax Dr Alasdair Blain Dr Daniel Erskine Professor Mark Baker et al.	Forecasting stroke-like episodes and outcomes in mitochondrial disease	2022
Professor Laurence Bindoff Professor Grainne Gorman Professor Bobby McFarland Dr Yi Ng Dr Robert Pitceathly et al.	Comment on “A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome”	2021
Professor Rita Horvath Dr Wei Wei Dr Robert Pitceathly Professor Michael Hanna Professor John Sayer et al.	Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: Cohort study	2021
Professor Robert Taylor Professor Michael Hanna Dr Robert Pitceathly	Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA^Gly(MT-TG) variant	2020
Dr Yi Ng Dr Mika Martikainen Professor Grainne Gorman Dr Alasdair Blain Dr Andrew Schaefer et al.	Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study	2019
Dr Charlotte Alston Dr Robert Pitceathly Professor Bobby McFarland Dr Andrew Schaefer Emeritus Professor Doug Turnbull et al.	The urinary proteome and metabonome differ from normal in adults with mitochondrial disease	2015
Dr Robert Pitceathly Professor Bobby McFarland	Mitochondrial myopathies in adults and children: management and therapy development	2014
Professor Grainne Gorman Dr Robert Pitceathly Emeritus Professor Doug Turnbull Professor Robert Taylor	RRM2B-Related Mitochondrial Disease	2013
Dr Victoria Nesbitt Dr Robert Pitceathly Dr Simon Cockell Professor Michael Hanna Professor Patrick Chinnery et al.	The Medical Research Council Neuromuscular Centre for Translational Research Mitochondrial Disease Patient Cohort Study UK: From Conceptualisation to Utilisation	2013
Dr Victoria Nesbitt Dr Robert Pitceathly Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Bobby McFarland et al.	The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management	2013
Dr Victoria Nesbitt Dr Robert Pitceathly Dr Simon Cockell Professor Michael Hanna Emeritus Professor Doug Turnbull et al.	The medical research council neuromuscular centre for translational research mitochondrial disease patient cohort study UK: from conceptualisation to utilisation	2012
Dr Joanna Elson Dr John Yarham Professor Francois van der Westhuizen Dr Robert Pitceathly Professor Robert Taylor et al.	Towards a mtDNA locus-specific mutation database using the LOVD platform	2012
Dr Victoria Nesbitt Dr Robert Pitceathly Professor Bobby McFarland Emeritus Professor Doug Turnbull	A3243G - more than just MELAS!	2011
Dr Charlotte Alston Dr Robert Pitceathly Professor Michael Hanna Dr Andrew Schaefer Professor Patrick Chinnery et al.	Dominant and recessive RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions	2011
Dr Victoria Nesbitt Dr Robert Pitceathly Emeritus Professor Doug Turnbull Professor Bobby McFarland	The MRC Centre for Translational Research in Neuromuscular Disease: Mitochondrial Disease Patient Cohort Study UK	2011
Dr Robert Pitceathly Dr Victoria Nesbitt Professor Bobby McFarland Emeritus Professor Doug Turnbull	MRC mitochondrial cohort study: development of a UK database	2010