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Browsing publications by Dr Andrew Schaefer

Newcastle AuthorsTitleYearFull text
Dr Yi Ng
Dr Kyle Thompson
Daniela Loher
Sila Hopton
Gavin Falkous
et al.
Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency2020
Charlotte Zierz
Karen Baty
Sila Hopton
Gavin Falkous
Dr Andrew Schaefer
et al.
A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia2019
Dr Heather Moore
Dr Thomas Kelly
Alexandra Bright
Dr Andrew Schaefer
Dr Alasdair Blain
et al.
Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: Importance of correcting for baseline intellectual ability2019
Dr Rachel Boal
Dr Yi Ng
Dr Sarah Pickett
Dr Andrew Schaefer
Catherine Feeney
et al.
Height as a clinical biomarker of disease burden in adult mitochondrial disease2019
Dr Ewen Sommerville
Dr Francesco Bruni
Dr Kyle Thompson
Dr Mariana Rocha
Dr Langping He
et al.
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance2019
Dr Daniel Erskine
Dr Amy Reeve
Dr Tuomo Polvikoski
Dr Andrew Schaefer
Professor Robert Taylor
et al.
Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls2019
Dr Yi Ng
Dr Mika Martikainen
Dr Grainne Gorman
Dr Alasdair Blain
Dr Andrew Schaefer
et al.
Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study2019
Dr Yi Ng
Dr Nichola Lax
Dr Charlotte Alston
Philippa Hepplewhite
Professor Patrick Chinnery
et al.
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load2018
Dr John Grady
Dr Sarah Pickett
Dr Yi Ng
Catherine Feeney
Dr Andrew Schaefer
et al.
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease2018
Dr Mariana Rocha
Hannah Rosa
Dr John Grady
Dr Langping He
Jane Newman
et al.
Pathological mechanisms underlying single large-scale mitochondrial DNA deletions2018
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