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Browsing publications by Dr Helen Griffin

Newcastle AuthorsTitleYearFull text
Dr Jarmila Spegarova
Dr Karin Engelhardt
Dr Helen Griffin
Dr Aneta Mikulasova
Dr Meghan Acres
et al.		Germline TET2 loss-of-function causes childhood immunodeficiency and lymphoma2020
Dr David Burns
Dr Helen Griffin
Dr Graeme Wells
Romance Zendah
Benjamin Munro
et al.		RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels2020
Dr Mauro Santibanez Koref
Dr Helen Griffin
Professor Doug Turnbull
Professor Patrick Chinnery
Professor Mary Herbert
et al.		Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution2019
Dr Veronika Boczonadi
Dr Monika Olahova
Dr Boglárka Bánsági
Dr Andreas Roos
Dr Vankateswara Ramesh
et al.		Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease (Genetics in Medicine, (2018), 20, 10, (1224-1235), 10.1038/gim.2017.251)2019
Marina Bartsakoulia
Dr Angela Pyle
Dr Jennifer Duff
Dr Helen Griffin
Dr Veronika Boczonadi
et al.		A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies2018
Dr Veronika Boczonadi
Dr Monika Olahova
Dr Boglarka Bansagi
Dr Andreas Roos
Dr Vankateswara Ramesh
et al.		Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease2018
Dr Boglárka Bánsági
Dr Mark Baker
Matt Jennings
Dr Roger Whittaker
Dr Jennifer Duff
et al.		Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation2018
Dr Veronika Boczonadi
Dr Helen Griffin
Dr Andreas Roos
Marina Bartsakoulia
Dr Boglarka Bansagi
et al.		Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons2018
Dr David Burns
Michele Giunta
Benjamin Munro
Dr Gavin Hudson
Dr Helen Griffin
et al.		Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy2018
Dr Michael Keogh
Dr Wei Wei
Dr Ian Wilson
Dr Jonathan Coxhead
Dr Helen Griffin
et al.		Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource2017
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