Publications by Dr Michael Keogh - ePrints

Browsing publications by Dr Michael Keogh.

Newcastle Authors	Title	Year
Dr Marzena Kurzawa-Akanbi Dr Michael Keogh Eliona Tsefou Lynne Ramsay Mary Johnson et al.	Neuropathological and Biochemical Investigation of Hereditary Ferritinopathycases with Ferritin Light Chain Mutation: Prominent Protein Aggregation in the Absence of Major Mitochondrial or Oxidative Stress	2021
Dr Michael Keogh Dr Christopher Morris	Correction to: A nonsynonymous mutation in PLCG₂ reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity	2020
Dr Michael Keogh Dr Christopher Morris	A nonsynonymous mutation in PLCG₂ reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity	2019
Dr Michael Keogh Dr Wei Wei Dr Ian Wilson Professor Johannes Attems Dr Christopher Morris et al.	Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains	2018
Dr Michael Keogh Dr Wei Wei Dr Ian Wilson Dr Jonathan Coxhead Dr Helen Griffin et al.	Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource	2017
Dr Michael Keogh Dr Ian Wilson Dr Jonathan Coxhead Dr Helen Griffin Dr Marzena Kurzawa-Akanbi et al.	Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains	2017
Dr Michael Keogh Dr Stephan Jaiser Dr Hannah Steele Professor Rita Horvath Professor Patrick Chinnery et al.	PLP1 mutations and central demyelination: evidence from electrophysiologic phenotyping in female manifesting carriers	2017
Dr Michael Keogh Dr Marzena Kurzawa-Akanbi Dr Helen Griffin Dr Konstantinos Douroudis Dr Kristin Ayers et al.	Exome sequencing in dementia with Lewy bodies	2016
Emerita Professor Susan Lindsay Dr Yaobo Xu Dr Steven Lisgo Lauren Harkin Dr Gavin Clowry et al.	HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development	2016
Professor Rita Horvath Dr David Lewis-Smith Dr Konstantinos Douroudis Dr Jennifer Duff Dr Michael Keogh et al.	SCP2 mutations and neurodegeneration with brain iron accumulation	2015
Dr Michael Keogh Daniyal Daud Dr Angela Pyle Dr Jennifer Duff Dr Helen Griffin et al.	A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism	2015
Dr Michael Keogh Dr Angela Pyle Daniyal Daud Dr Helen Griffin Dr Konstantinos Douroudis et al.	Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB	2015
Dr Michael Keogh Dr Hannah Steele Dr Konstantinos Douroudis Dr Angela Pyle Dr Jennifer Duff et al.	Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia	2015
Dr Michael Keogh Professor Patrick Chinnery	Mitochondrial DNA mutations in neurodegeneration	2015
Dr David Bargiela Dr Patrick Yu Wai Man Dr Michael Keogh Professor Rita Horvath Professor Patrick Chinnery et al.	Prevalence of neurogenetic disorders in the North of England	2015
Dr Angela Pyle Dr Helen Griffin Dr Michael Keogh Professor Rita Horvath Professor Patrick Chinnery et al.	Reply: Evaluation of exome sequencing variation in undiagnosed ataxias	2015
Professor Paolo Missier Ryan Kirby Dr Michael Keogh	SVI: A Simple Single-Nucleotide Human Variant Interpretation Tool for Clinical Use	2015
Dr Michael Keogh Dr Benjamin Aribisala Dr Jiabao He Dr Clare Morris Professor Grainne Gorman et al.	Voxel-based analysis in neuroferritinopathy expands the phenotype and determines radiological correlates of disease severity	2015
Professor Patrick Chinnery Dr Michael Keogh Dr Claire Troakes	LRRK2 exonic variants and risk of multiple system atrophy	2014
Dr Michael Keogh Professor Patrick Chinnery	Hereditary mtDNA Heteroplasmy: A Baseline for Aging?	2013
Dr Michael Keogh Professor Patrick Chinnery	How to spot mitochondrial disease in adults	2013
Dr Angela Pyle Dr Helen Griffin Dr Michael Keogh Dr Mauro Santibanez Koref Professor Patrick Chinnery et al.	Multisystem fatal infantile disease caused by a novel homozygous EARS₂ mutation	2013
Dr Michael Keogh Professor Patrick Chinnery	Next generation sequencing for neurological diseases: New hope or new hype?	2013
Dr Michael Keogh Professor Patrick Chinnery	Current Concepts and Controversies in Neurodegeneration with Brain Iron Accumulation	2012
Dr Michael Keogh Professor Patrick Chinnery Professor Sir John Burn	Neuroferritinopathy: a new inborn error of iron metabolism	2012
Dr Michael Keogh	The association between seizure activity and neural injury following endotoxin exposure and hypoxic-ischaemic insults in a preterm ovine model	2012
Dr Michael Keogh	The Use of Aminopyridines in Neurological Disorders	2012
Dr Michael Keogh	Reversible Hypomagnesaemia-Induced Subacute Cerebellar Syndrome	2011
Dr Michael Keogh	Treatment for Lambert-Eaton myasthenic syndrome	2011