Browsing publications by Dr John Yarham

Newcastle AuthorsTitleYear
Dr Nichola Lax
Charlotte Alston
Dr Tuomo Polvikoski
Dr Evelyn Jaros
Dr John Yarham
et al.
Early-Onset Cataracts, Spastic Paraparesis, and Ataxia Caused by a Novel Mitochondrial tRNA(Glu) (MT-TE) Gene Mutation Causing Severe Complex I Deficiency: A Clinical, Molecular, and Neuropathologic Study2013
Dr John Yarham
Professor Robert Taylor
Inosine Triphosphate Pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects2013
Dr John Yarham
Eve Simcox
Dr Satomi Miwa
Dr Bobby McFarland
Professor Robert Taylor
et al.
Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance2013
Dr John Yarham
Charlotte Alston
Kate Craig
Dr Kirstie Anderson
Professor Doug Turnbull
et al.
Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease2013
Dr John Yarham
Charlotte Alston
Professor Doug Turnbull
Dr Bobby McFarland
Professor Robert Taylor
et al.
The m.3291T > C mt-tRNALeu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease2013
Dr John Yarham
Dr Bobby McFarland
Professor Robert Taylor
Dr Joanna Elson
A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations2012
Dr John Yarham
Dr Joanna Elson
Professor Robert Taylor
Dr Bobby McFarland
A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations2012
Dr Joanna Elson
Dr John Yarham
Professor Francois van der Westhuizen
Dr Robert Pitceathly
Professor Robert Taylor
et al.
Towards a mtDNA locus-specific mutation database using the LOVD platform2012
Dr John Yarham
Dr Joanna Elson
Charlotte Alston
Professor Doug Turnbull
Dr Bobby McFarland
et al.
Assigning pathogenicity to mitochondrial tRNA gene mutations2010
Dr John Yarham
Dr Joanna Elson
Dr Bobby McFarland
Professor Robert Taylor
Mitochondrial tRNA mutations and disease2010