Toggle Main Menu Toggle Search

ePrints

Browsing publications by Dr Jennifer Duff

Newcastle AuthorsTitleYearFull text
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 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 Boglárka Bánsági
Dr Helen Griffin
Dr Roger Whittaker
Dr Teresinha Evangelista
Dr James Miller
et al.
Genetic heterogeneity of motor neuropathies2017
Dr Jennifer Duff
Professor Neil Sheerin
Professor John Sayer
Dr Gavin Hudson
Professor Patrick Chinnery
et al.
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease2017
Dr Boglarka Bansagi
Dr John O'Sullivan
Dr Juliane Mueller
Dr Jennifer Duff
Dr Grainne Gorman
et al.
Multifocal motor neuropathy caused by phosphatase and tensin homologue (PTEN) mutation2016
Dr Boglárka Bánsági
Dr David Lewis-Smith
Dr Jennifer Duff
Dr Helen Griffin
Dr Angela Pyle
et al.
Phenotypic convergence of Menkes and Wilson disease2016
Professor Rita Horvath
Dr David Lewis-Smith
Dr Konstantinos Douroudis
Dr Jennifer Duff
Dr Michael Keogh
et al.
SCP2 mutations and neurodegeneration with brain iron accumulation2015
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 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
12