Browsing publications by Dr Gerald Pfeffer

Newcastle AuthorsTitleYear
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 Gerald Pfeffer
Dr Helen Griffin
Dr Angela Pyle
Professor Rita Horvath
Professor Patrick Chinnery
et al.
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain2014
Dr Gerald Pfeffer
Professor Patrick Chinnery
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain2014
Dr Gerald Pfeffer
Dr Rita Barresi
Dr Ian Wilson
Dr Steven Hardy
Dr Helen Griffin
et al.
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure2014
Dr Gerald Pfeffer
Dr Ailbhe Burke
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations2013
Dr Gerald Pfeffer
Professor Patrick Chinnery
Diagnosis and treatment of mitochondrial myopathies2013
Dr Gerald Pfeffer
Professor Rita Horvath
Professor Laurence Bindoff
Dr Patrick Yu Wai Man
Professor Michael Hanna
et al.
New treatments for mitochondrial disease - no time to drop our standards2013
Dr Gerald Pfeffer
Andrew Browning
Professor Rita Horvath
Professor Patrick Chinnery
Dr Patrick Yu Wai Man
et al.
The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia2013
12