Browsing publications by Professor Patrick Chinnery

Newcastle AuthorsTitleYearFull text
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
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
Dr Florence Burte
Professor Patrick Chinnery
Dr Patrick Yu Wai Man
Disturbed mitochondrial dynamics and neurodegenerative disorders2015
Dr Angela Pyle
Tania Smertenko
Dr David Bargiela
Dr Helen Griffin
Dr Jennifer Duff
et al.
Exome sequencing in undiagnosed inherited and sporadic ataxias2015
Dr Angela Pyle
Dr Gavin Hudson
Dr Ian Wilson
Dr Jonathan Coxhead
Tania Smertenko
et al.
Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans2015
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