Browsing publications by Dr Helen Griffin

Newcastle AuthorsTitleYearFull text
Dr Veronika Boczonadi
Dr Juliane Mueller
Dr Angela Pyle
Dr Jennifer Munkley
Michele Giunta
et al.
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia2014
Dr Michael Keogh
Daniyal Daud
Dr Angela Pyle
Dr Hannah Steele
Dr Jennifer Duff
et al.
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile onset parkinsonism2014
Dr Patrick Yu Wai Man
Dr Angela Pyle
Dr Helen Griffin
Dr Mauro Santibanez Koref
Professor Rita Horvath
et al.
Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes2014
Dr Amina Chaouch
Yasmin Issop
Daniel Cox
Dr Juliane Mueller
Dr Teresinha Evangelista
et al.
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy2014
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 Ana Topf
Dr Helen Griffin
Dr Elise Glen
Rachel Soemedi
Dr Danielle Brown
et al.
Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot2014
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 Helen Griffin
Dr Angela Pyle
Professor Rita Horvath
Professor Patrick Chinnery
et al.
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain2014
Professor Rita Horvath
Dr Roger Whittaker
Dr Boglarka Bansagi
Dr Angela Pyle
Dr Veronika Boczonadi
et al.
Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy2014
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
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