Browsing publications by Dr Patrick Yu Wai Man

Newcastle AuthorsTitleYear
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
197th ENMC international workshop: Neuromuscular disorders of mitochondrial fusion and fission-OPA1 and MFN2 molecular mechanisms and therapeutic strategies. 26-28 April 2013, Naarden, The Netherlands2014
Dr Patrick Yu Wai Man
Dr Angela Pyle
Dr Helen Griffin
Dr Mauro Santibanez Koref
Professor Rita Horvath
et al.
Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes2014
Dr Gavin Hudson
Dr Angela Pyle
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy2014
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 Patrick Yu Wai Man
Professor Patrick Chinnery
Treatment strategies for inherited optic neuropathies: past, present and future2014
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 Patrick Yu Wai Man
Professor Patrick Chinnery
Dominant Optic Atrophy: Novel OPA1 Mutations and Revised Prevalence Estimates2013
Dr Angela Pyle
Dr Helen Griffin
Dr Jennifer Duff
Shona Bennett
Dr Simon Zwolinksi
et al.
Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization2013
Professor Rita Horvath
Charlotte Alston
Dr Patrick Yu Wai Man
Dr Langping He
Professor Robert Taylor
et al.
Near-Identical Segregation of mtDNA Heteroplasmy in Blood, Muscle, Urinary Epithelium, and Hair Follicles in Twins With Optic Atrophy, Ptosis, and Intractable Epilepsy2013
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
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