Browsing publications by Dr Andrew Schaefer

Newcastle AuthorsTitleYear
Dr Brook Galna
Jane Newman
Dr Djordje Jakovljevic
Dr Matthew Bates
Dr Andrew Schaefer
et al.
Discrete gait characteristics are associated with m.3243A > G and m.8344A > G variants of mitochondrial disease and its pathological consequences2014
Dr Gerald Pfeffer
Dr Grainne Gorman
Dr Helen Griffin
Dr Marzena Kurzawa-Akanbi
Dr Ian Wilson
et al.
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance2014
Dr Matthew Bates
Jane Newman
Dr Djordje Jakovljevic
Dr Kieren Hollingsworth
Professor Andrew Blamire
et al.
Defining cardiac adaptations and safety of endurance training in patients with m.3243A>g-related mitochondrial disease2013
Dr John Grady
Georgia Campbell
Gavin Falkous
Dr Victoria Nesbitt
Dr Andrew Schaefer
et al.
Disease progression in patients with single, large-scale mitochondrial DNA deletions2013
Dr Andrew Schaefer
Professor Mark Walker
Professor Doug Turnbull
Professor Robert Taylor
Endocrine disorders in mitochondrial disease2013
Jane Newman
Dr Brook Galna
Dr Djordje Jakovljevic
Dr Matthew Bates
Dr Andrew Schaefer
et al.
Evaluation of Functional Outcome Measures as a Surrogate Marker of Disease Severity in Patients with Mitochondrial Disease2013
Charlotte Alston
Dr Andrew Schaefer
Kim Krishnan
Dr Langping He
Kate Craig
et al.
Late-Onset Respiratory Failure Due to Tk2 Mutations Causing Multiple MtDNA Deletions2013
Charlotte Alston
Dr Langping He
Kate Craig
Dr Andrew Schaefer
Dr Bobby McFarland
et al.
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics2012
Charlotte Alston
Dr Andrew Schaefer
Professor Doug Turnbull
Professor Robert Taylor
Dr Grainne Gorman
et al.
The c.48G > A variant in the mitochondrial DNA maintenance gene, RRM2B, causes adult-onset autosomal dominant PEO via aberrant splicing2012
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
1234567