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 Langping He
Charlotte Alston
et al.
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism2015
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 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 Helen Griffin
Dr Angela Pyle
Professor Patrick Chinnery
Increased Yield of Exome Sequencing by Off-Target Mitochondrial DNA Analysis2015
Dr Grainne Gorman
Dr John Grady
Dr Yi Ng
Dr Andrew Schaefer
Dr Richard McNally
et al.
Mitochondrial Donation: How Many Women Could Benefit?2015
Professor Rita Horvath
Professor Patrick Chinnery
Modifying Mitochondrial tRNAs: Delivering What the Cell Needs2015
Dr Angela Pyle
Dr Helen Griffin
Dr Miranda Splitt
Professor Patrick Chinnery
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness2015
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations2015
1234567891011121314151617181920...