Publications by Dr John Yarham - ePrints

Browsing publications by Dr John Yarham.

Newcastle Authors	Title	Year
Dr Charlotte Alston Dr Monika Olahova Dr John Yarham Dr Langping He Professor Robert Taylor et al.	Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype	2016
Dr Monika Olahova Dr Steven Hardy Dr John Yarham William Wilson Dr Charlotte Alston et al.	LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population	2015
Dr John Yarham Dr Angela Pyle Dr Francesco Bruni Dr Langping He Dr Helen Griffin et al.	Defective i⁶A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and its Substrate tRNA	2014
Dr Nichola Lax Dr 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 Study	2013
Dr John Yarham Professor Robert Taylor	Inosine Triphosphate Pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects	2013
Dr John Yarham Dr Eve Cosgrave Dr Satomi Miwa Professor Bobby McFarland Professor Robert Taylor et al.	Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance	2013
Dr John Yarham Dr Charlotte Alston Kate Craig Dr Kirstie Anderson Emeritus Professor Doug Turnbull et al.	Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease	2013
Dr John Yarham Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Bobby McFarland Professor Robert Taylor et al.	The m.3291T > C mt-tRNA^Leu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease	2013
Dr John Yarham Professor Bobby McFarland Professor Robert Taylor Dr Joanna Elson	A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations	2012
Dr John Yarham Dr Joanna Elson Professor Robert Taylor Professor Bobby McFarland	A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations	2012
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 platform	2012
Dr John Yarham Dr Joanna Elson Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Bobby McFarland et al.	Assigning pathogenicity to mitochondrial tRNA gene mutations	2010
Dr John Yarham Dr Joanna Elson Professor Bobby McFarland Professor Robert Taylor	Mitochondrial tRNA mutations and disease	2010