Browsing publications by Dr Patrick Yu Wai Man

Newcastle AuthorsTitleYear
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations2015
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 Patrick Yu Wai Man
Matthew Kirkman
Professor Patrick Chinnery
Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients2014
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
David Moore
Dr Patrick Yu Wai Man
Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?2014
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA12014
David Moore
Dr Patrick Yu Wai Man
Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis2014
David Moore
Dr Patrick Yu Wai Man
Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease2014
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