Browsing publications by Professor Patrick Chinnery

Newcastle AuthorsTitleYearFull text
Professor Patrick Chinnery
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency2016
Dr Grant Guthrie
Dr Gerald Pfeffer
Andrew Browning
Professor Rita Horvath
Professor Patrick Chinnery
et al.
Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia (vol 260, pg 906, 2013)2016
Dr Gerald Pfeffer
Dr Angela Pyle
Dr Helen Griffin
Valerie Wilson
Dr Lisa Turnbull
et al.
SPG7 mutations are a common cause of undiagnosed ataxia2015
Joanna Rorbach
Charlotte Alston
Dr Helen Griffin
Dr Angela Pyle
Professor Patrick Chinnery
et al.
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies2015
Dr Michael Keogh
Daniyal Daud
Dr Angela Pyle
Dr Jennifer Duff
Dr Helen Griffin
et al.
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism2015
Dr Vasileios Floros
Professor Patrick Chinnery
A Unique Gene Regulatory Network Resets the Human Germline Epigenome for Development2015
Dr Brendan Payne
Kris Gardner
Professor Rita Horvath
Professor Robert Taylor
Professor Patrick Chinnery
et al.
Clinical and Pathological Features of Mitochondrial DNA Deletion Disease Following Antiretroviral Treatment2015
Dr Michael Keogh
Dr Angela Pyle
Daniyal Daud
Dr Helen Griffin
Dr Konstantinos Douroudis
et al.
Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB2015
Dr Grainne Gorman
Dr Gerald Pfeffer
Dr Helen Griffin
Dr Marzena Kurzawa-Akanbi
Jessica Gabriel
et al.
Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 282015
Dr Gerald Pfeffer
Emeritus Professor John Gibson
Professor Patrick Chinnery
Diagnosis of muscle diseases presenting with early respiratory failure2015
1234567891011121314151617181920...