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Browsing publications by Dr Gerald Pfeffer

Newcastle AuthorsTitleYearFull text
Helen Nightingale
Dr Gerald Pfeffer
Dr David Bargiela
Professor Rita Horvath
Professor Patrick Chinnery
et al.
Emerging therapies for mitochondrial disorders2016
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
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 Angela Pyle
Tania Smertenko
Dr David Bargiela
Dr Helen Griffin
Dr Jennifer Duff
et al.
Exome sequencing in undiagnosed inherited and sporadic ataxias2015
Dr Gerald Pfeffer
Professor Patrick Chinnery
A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure2014
Helen Nightingale
Dr Gerald Pfeffer
Professor Rita Horvath
Chronic and slowly progressive weakness of the legs and hands2014
Dr Gerald Pfeffer
Dr Grainne Gorman
Dr Helen Griffin
Dr Marzena Kurzawa-Akanbi
Dr Ian Wilson
et al.
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance2014
Dr Rita Barresi
Dr Anna Sarkozy
Dr Gerald Pfeffer
Dr Teresinha Evangelista
Professor Patrick Chinnery
et al.
Proteomic analysis in 72 myofibrillar myopathy (MFM) patients identifies new disease-relevant proteins accumulating in aggregates and reveals subtype-specific proteomic profiles2014
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