Browsing publications by Dr Helen Griffin

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
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 Angela Pyle
Tania Smertenko
Dr David Bargiela
Dr Helen Griffin
Dr Jennifer Duff
et al.
Exome sequencing in undiagnosed inherited and sporadic ataxias2015
Dr Michael Keogh
Dr Hannah Steele
Dr Konstantinos Douroudis
Dr Angela Pyle
Dr Jennifer Duff
et al.
Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia2015
Dr Helen Griffin
Dr Angela Pyle
Professor Patrick Chinnery
Increased Yield of Exome Sequencing by Off-Target Mitochondrial DNA Analysis2015
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 Teresinha Evangelista
Dr Boglarka Bansagi
Dr Angela Pyle
Dr Helen Griffin
Dr Konstantinos Douroudis
et al.
Phenotypic variability of TRPV4 related neuropathies2015
Dr Angela Pyle
Helen Nightingale
Dr Helen Griffin
Dr Konstantinos Douroudis
Dr Mauro Santibanez Koref
et al.
Respiratory chain deficiency in nonmitochondrial disease2015
Dr Boglarka Bansagi
Dr Helen Griffin
Dr Vankateswara Ramesh
Dr Jennifer Duff
Dr Angela Pyle
et al.
The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy2015
12345