Browsing publications by Dr Andrew Schaefer

Newcastle AuthorsTitleYear
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
Dr Andrew Schaefer
Professor Patrick Chinnery
Dr Rita Horvath
Professor Doug Turnbull
Dr Grainne Gorman
et al.		Dominant and recessive RRM2B mutations cause familial PEO and multiple mtDNA deletions in muscle2011
Dr Thomas Cope
Dr Bobby McFarland
Dr Andrew Schaefer
Rapid-onset, linezolid-induced lactic acidosis in MELAS.2011
Dr Andrew Schaefer
Professor Patrick Chinnery
Dr Rita Horvath
Professor Doug Turnbull
Dr Grainne Gorman
et al.		RRM2B mutations are frequent in familial peo with multiple mtDNA deletions2011
Dr Evelyn Jaros
Dr Amy Reeve
Dr Andrew Schaefer
Professor Robert Taylor
Professor Doug Turnbull
et al.		Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions2009
Dr Stephan Jaiser
Dr Adam Cassidy
Dr Joseph Guadagno
Dr Andrew Schaefer
Dr Kirstie Anderson
et al.		Denture Cream as a Cause of Copper Deficiency and Neurological Disease2009
Adillah Binti Yusof
Dr Martin Barron
Dr Stephanie Needham
Dr Andrew Schaefer
Professor Robert Taylor
et al.		Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation2008
Dr Andrew Schaefer
Dr Bobby McFarland
Professor Patrick Chinnery
Professor Robert Taylor
Professor Doug Turnbull
et al.		Mitochondrial DNA Disease Prevalence: Still Underrecognized? Reply2008
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