ePrints

The Newcastle University research output collection, currently available on ePrints, will shortly be moving to a new open repository platform, Figshare. To prepare for the data migration we have paused adding new content to ePrints, and will resume once the new repository is launched. During this time you will continue to have access to ePrints (but no new content will appear). We will share updates here when available.

Browsing publications by Dr Andrew Schaefer

Newcastle Authors	Title	Year	Full text
Professor Bobby McFarland Dr Andrew Schaefer	Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements	2026
Dr Roisin Boggan Dr Dafni Michalettou Dr Yi Ng Dr Imogen Franklin Lucas Cortes et al.	Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant	2026
Dr Beatriz Madureira Dr Anderson Brito da Silva Dr Mat Elameer Alasdair Gebbels Dr Andrew Schaefer et al.	Somatosensory and motor cortical evoked potentials in the diagnosis and management of scan-negative myelopathy	2026
Dr Andrew Schaefer Kate Craig Sila Hopton Gavin Falkous Professor Robert Taylor et al.	Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy	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
Dr ursula Moore Professor Volker Straub Dr Rita Barresi Professor Michela Guglieri Dr Hannah Hayhurst et al.	Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy	2022
Professor Volker Straub Professor Grainne Gorman Professor Rita Horvath Dr Richard Quinton Dr Andrew Schaefer et al.	100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report	2021
Professor Grainne Gorman Professor Rita Horvath Dr Richard Quinton Dr Andrew Schaefer Dr Patrick Yu Wai Man et al.	100,000 genomes pilot on rare-disease diagnosis in health care — Preliminary report	2021
Jack Collier Dr Monika Olahova Dr Nuria Martinez Lopez Dr Tuomo Polvikoski Dr Andrew Schaefer et al.	Developmental consequences of defective Atg7-mediated autophagy in humans	2021
Dr Albert Lim Dr Daniel Jones Dr Matt Bates Dr Andrew Schaefer Dr John O'Sullivan et al.	Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects	2021
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 controls	2020
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 Deficiency	2020
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 Ataxia	2019
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 ability	2019
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 disease	2019
1 2 3 4 5 6 7