Browsing publications by Dr Helen Griffin

Newcastle AuthorsTitleYear
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 tRNA2014
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 Gerald Pfeffer
Dr Rita Barresi
Dr Ian Wilson
Dr Steven Hardy
Dr Helen Griffin
et al.
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure2014
Vivienne Neeve
Dr Angela Pyle
Dr Veronika Boczonadi
Dr Aurora Gomez Duran
Dr Helen Griffin
et al.
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT2013
Dr Angela Pyle
Dr Helen Griffin
Dr Jennifer Duff
Shona Bennett
Dr Simon Zwolinksi
et al.
Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization2013
Dr Angela Pyle
Dr Helen Griffin
Dr Michael Keogh
Dr Mauro Santibanez Koref
Professor Patrick Chinnery
et al.
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation2013
Professor Judith Goodship
Dr Darroch Hall
Dr Ana Topf
Valentina Mamasoula
Dr Helen Griffin
et al.
A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot2012
Vivienne Neeve
Dr Angela Pyle
Dr Helen Griffin
Deepthi Ashok
Dr Gavin Hudson
et al.
A new phenotype of brain iron accumulation with dystonia, optic atrophy and peripheral neuropathy2012
Professor Rita Horvath
Vivienne Neeve
Dr Angela Pyle
Dr Helen Griffin
Deepthi Ashok
et al.
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy2012
Dr Sophie Hambleton
Dr David McDonald
Dr Helen Griffin
Angela Grainger
Dr Louise Reynard
et al.
Autosomal recessive combines immunodeficiency due to loss of function mutation in Tripeptidyl Peptidase II2012
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