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Browsing publications by Dr Patrick Yu Wai Man

Newcastle AuthorsTitleYearFull text
Dr Patrick Yu Wai Man
Professor Rita Horvath
Dr Tim Rudge
OPA1 and disease-causing mutants perturb mitochondrial nucleoid distribution2024
Dr Tina Biss
Dr Paul Brennan
Philip Griffiths
Professor Rita Horvath
Professor Patrick Chinnery
et al.		GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements2022
George Cairns
Florence Burté
Emily O'Connor
Dr Angela Pyle
Professor John Sayer
et al.		A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay2021
Dr Patrick Yu Wai Man
Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches2019
Florence Burté
Dr Patrick Yu Wai Man
Monoamine oxidase-A promotes protective autophagy in human SH-SY5Y neuroblastoma cells through Bcl-2 phosphorylation2019
Selena Trifunov
Dr Angela Pyle
Dr Patrick Yu Wai Man
Florence Burté
Dr Jennifer Duff
et al.		Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells2018
Dr Patrick Yu Wai Man
GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes2018
David Moore
Florence Burté
Dr Patrick Yu Wai Man
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions2017
Professor Patrick Chinnery
Dr Patrick Yu Wai Man
Childhood-onset Leber hereditary optic neuropathy2017
Dr Patrick Yu Wai Man
Professor Bobby McFarland
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project2017
David Moore
Florence Burté
Dr Patrick Yu Wai Man
Corrigendum: A novel CISD2 mutation associated with a classical wolfram syndrome phenotype alters Ca21 homeostasis and ER-mitochondria interactions. [Human Molecular Genetics (2017)], doi: 10.1093/hmg/ddx0602017
Dr Patrick Yu Wai Man
Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations2017
Dr Patrick Yu Wai Man
Erratum to: Genetic Counselling for Maternally Inherited Mitochondrial Disorders2017
Dr Patrick Yu Wai Man
David Moore
Florence Burté
Evaluating the therapeutic potential of idebenone and related quinone analogues in Leber hereditary optic neuropathy2017
Dr Patrick Yu Wai Man
Genetic Counselling for Maternally Inherited Mitochondrial Disorders2017
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