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Browsing publications by Dr Robert Pitceathly.

Newcastle AuthorsTitleYearFull text
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 diversity2023
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 Study2022
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 disease2022
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 study2021
Professor Robert Taylor
Professor Michael Hanna
Dr Robert Pitceathly
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant2020
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 study2019
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 disease2015
Dr Robert Pitceathly
Professor Bobby McFarland
Mitochondrial myopathies in adults and children: management and therapy development2014
Professor Grainne Gorman
Dr Robert Pitceathly
Emeritus Professor Doug Turnbull
Professor Robert Taylor
RRM2B-Related Mitochondrial Disease2013
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 Utilisation2013
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 management2013
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 utilisation2012
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 platform2012
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 deletions2011
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 UK2011
Dr Robert Pitceathly
Dr Victoria Nesbitt
Professor Bobby McFarland
Emeritus Professor Doug Turnbull
MRC mitochondrial cohort study: development of a UK database2010