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Browsing publications by Dr Patrick Yu Wai Man.

Newcastle AuthorsTitleYearFull text
George Cairns
Dr Florence Burte
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
Dr Florence Burte
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
Dr Florence Burte
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
Dr Florence Burte
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
Dr Florence Burte
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
Dr Florence Burte
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
Dr Patrick Yu Wai Man
Harnessing the power of genetic engineering for patients with mitochondrial eye diseases2017
Dr Valeria Chichagova
Dr Dean Hallam
Dr Joseph Collin
Dr Adriana Buskin
Dr Gabriele Saretzki
et al.
Human iPSC disease modelling reveals functional and structural defects in retinal pigment epithelial cells harbouring the m.3243A>G mitochondrial DNA mutation2017
Dr Patrick Yu Wai Man
Inherited eye-related disorders due to mitochondrial dysfunction2017
Dr Patrick Yu Wai Man
Leber hereditary optic neuropathy: bridging the translational gap2017
Dr Patrick Yu Wai Man
Management of ophthalmologic manifestations of mitochondrial diseases2017
Dr Florence Burte
Dr Dave Houghton
Hannah Lowes
Dr Angela Pyle
Sarah Nesbitt
et al.
Metabolic profiling of Parkinson's disease and mild cognitive impairment2017
Dr Patrick Yu Wai Man
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia2017
Professor Patrick Chinnery
Dr Patrick Yu Wai Man
The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy2017
Dr Patrick Yu Wai Man
The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses2017
Dr Florence Burte
Dr Patrick Yu Wai Man
CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis2016
Dr Patrick Yu Wai Man
Dr Holly Duncan
Dr Joseph Guadagno
Professor Patrick Chinnery
A multiple sclerosis-like disorder in patients with OPA1 mutations2016
Dr Patrick Yu Wai Man
Dr Florence Burte
A neurodegenerative perspective on mitochondrial optic neuropathies2016
Dr Peter Kullar
Emerita Professor Janet Wilson
Professor Rita Horvath
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
et al.
Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction2016
Dr Patrick Yu Wai Man
Clinical utility gene card for: Wolfram syndrome2016
Marina Bartsakoulia
Dr Juliane Mueller
Dr Aurora Gomez Duran
Dr Patrick Yu Wai Man
Dr Veronika Boczonadi
et al.
Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies2016
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
Padraig Flannery
Dr Florence Burte
Professor Robert Taylor
Professor Laurence Bindoff
Dr Patrick Yu Wai Man
et al.
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation2016
Dr Patrick Yu Wai Man
Genetic Manipulation for Inherited Neurodegenerative Diseases – Myth or Reality?2016
Dr David Lewis-Smith
Dr Helen Griffin
Dr Jennifer Duff
Dr Angela Pyle
Professor Robert Taylor
et al.
Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood2016
Dr Holly Duncan
Professor Patrick Chinnery
Dr Patrick Yu Wai Man
Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations2016
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Leber Hereditary Optic Neuropathy2016
Dr Patrick Yu Wai Man
Mitochondrial Optic Neuropathies - Clinical Manifestations and Natural History2016
David Moore
Dr Patrick Yu Wai Man
Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China2016
Dr Patrick Yu Wai Man
Dr Gavin Hudson
Professor Patrick Chinnery
Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion2016
Dr Yi Ng
Dr Patrick Yu Wai Man
Professor Robert Taylor
The m.13051G > A mitochondrial DNA mutation results in variable neurology and activated mitophagy2016
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Autosomal Dominant Optic Atrophy2015
Dr Patrick Yu Wai Man
Chronic Progressive External Ophthalmoplegia Secondary to Nuclear-Encoded Mitochondrial Genes2015
Dr Florence Burte
Professor Patrick Chinnery
Dr Patrick Yu Wai Man
Disturbed mitochondrial dynamics and neurodegenerative disorders2015
Dr Angela Pyle
Tania Smertenko
Dr David Bargiela
Dr Helen Griffin
Dr Jennifer Duff
et al.
Exome sequencing in undiagnosed inherited and sporadic ataxias2015
Professor Grainne Gorman
Dr John Grady
Dr Yi Ng
Dr Andrew Schaefer
Dr Richard McNally
et al.
Mitochondrial Donation: How Many Women Could Benefit?2015
Dr Patrick Yu Wai Man
Neuro-Ophthalmology in the United Kingdom2015
Dr David Bargiela
Dr Patrick Yu Wai Man
Dr Michael Keogh
Professor Rita Horvath
Professor Patrick Chinnery
et al.
Prevalence of neurogenetic disorders in the North of England2015
Professor Grainne Gorman
Dr Andrew Schaefer
Dr Yi Ng
Dr Charlotte Alston
Catherine Feeney
et al.
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease2015
David Moore
Professor Patrick Chinnery
Dr Patrick Yu Wai Man
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies2015
Dr Patrick Yu Wai Man
Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation2015
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations2015
Dr Patrick Yu Wai Man
Therapeutic Approaches to Inherited Optic Neuropathies2015
Dr Patrick Yu Wai Man
Traumatic optic neuropathy-Clinical features and management issues2015
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
Professor 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
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Treatment strategies for inherited optic neuropathies: past, present and future2014
Philip Griffiths
Dr Fiona Smith
Dr Michael Firbank
Professor Grainne Gorman
Professor Robert Taylor
et al.
Chronic progressive external ophthalmoplegia - Disease mechanisms and clinical outcome measures2013
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
Defects in mitochondrial dynamics and mitochondrial DNA instability2013
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Dominant Optic Atrophy: Novel OPA1 Mutations and Revised Prevalence Estimates2013
Dr Cynthia Yu Wai Man
Dr Fiona Smith
Dr Michael Firbank
Professor Grainne Gorman
Professor Robert Taylor
et al.
Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia2013
Dr Patrick Yu Wai Man
Nwanyieze Nwali
Philip Griffiths
Professor Patrick Chinnery
Idebenone treatment for Leber hereditary optic neuropathy - Past, present, and future2013
Dr Angela Pyle
Dr Helen Griffin
Dr Jennifer Duff
Shona Bennett
Dr Simon Zwolinski
et al.
Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization2013
Professor Rita Horvath
Dr 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
Dr Patrick Yu Wai Man
Dr Bas Buchner
Nwanyieze Nwali
Philip Griffiths
Professor Patrick Chinnery
et al.
Persistence of the treatment effect of idebenone in Leber's hereditary optic neuropathy2013
Anais Thouin
Philip Griffiths
Dr Gavin Hudson
Professor Patrick Chinnery
Dr Patrick Yu Wai Man
et al.
Raised Intraocular Pressure as a Potential Risk Factor for Visual Loss in Leber Hereditary Optic Neuropathy2013
Dr Kamil Sitarz
Dr Angela Pyle
Professor Rita Horvath
Philip Griffiths
Professor Patrick Chinnery
et al.
Redefining Wolfram syndrome in the molecular Era2013
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Reply: Sensorineural hearing loss in OPA1-linked disorders2013
Dr Patrick Yu Wai Man
Philip Griffiths
Steroids for traumatic optic neuropathy2013
Dr Patrick Yu Wai Man
The expanding clinical spectrum of dominant optic atrophy2013
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
Philip Griffiths
Professor Patrick Chinnery
Dr Patrick Yu Wai Man
Visual and psychological morbidity among patients with autosomal dominant optic atrophy2013
Dr Kamil Sitarz
Professor Rita Horvath
Dr Angela Pyle
Professor Robert Taylor
Professor Patrick Chinnery
et al.
OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy2012
Dr Patrick Yu Wai Man
Professor Grainne Gorman
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Diagnostic investigations of patients with chronic progressive external ophthalmoplegia2012
Kamil Sitarz
Professor Patrick Chinnery
Dr Patrick Yu Wai Man
Disorders of the Optic Nerve in Mitochondrial Cytopathies: New Ideas on Pathogenesis and Therapeutic Targets2012
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Dysfunctional mitochondrial maintenance: what breaks the circle of life?2012
Kamil Sitarz
Dr Patrick Yu Wai Man
Dr Gavin Hudson
Professor Rita Horvath
Professor Patrick Chinnery
et al.
Genetic variations within the OPA1 gene are not associated with neuromyelitis optica2012
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Leber hereditary optic neuropathy – Therapeutic challenges and early promise2012
Kamil Sitarz
Dr Patrick Yu Wai Man
Dr Angela Pyle
Joanna Stewart
Professor Rita Horvath
et al.
MFN2 mutations cause compensatory mitochondrial DNA proliferation2012
Dr Kamil Sitarz
Dr Patrick Yu Wai Man
Dr Angela Pyle
Joanna Stewart
Professor Rita Horvath
et al.
MFN2 mutations cause compensatory mitochondrial DNA proliferation2012
Dr Patrick Yu Wai Man
Mitochondrial Dysfunction in Glaucoma-Closing the Loop2012
Dr Angela Pyle
Dr Helen Griffin
Dr Patrick Yu Wai Man
Dr Jennifer Duff
Gail Eglon
et al.
Prominent Sensorimotor Neuropathy Due to SACS Mutations Revealed by Whole-Exome Sequencing2012
Dr Patrick Yu Wai Man
Professor Robert Taylor
Professor Patrick Chinnery
Recessive spastic paraparesis associated with complex I deficiency due to MTHFR mutations2012
Dr Brendan Payne
Dr Ian Wilson
Dr Patrick Yu Wai Man
Dr Jonathan Coxhead
Professor David Deehan
et al.
Universal heteroplasmy of human mitochondrial DNA2012
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
A randomised, placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy2011
Dr Patrick Yu Wai Man
Dr Sanatan Chattopadhyay
Philip Griffiths
Professor Patrick Chinnery
A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy2011
Dr Patrick Yu Wai Man
Genetic Screening for OPA1 and OPA3 Mutations in Patients with Suspected Inherited Optic Neuropathies2011
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Heterozygous OPA1 mutations in Behr syndrome [reply]2011
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Leber hereditary optic neuropathy – Therapeutic challenges and early promise2011
Dr Patrick Yu Wai Man
Philip Griffiths
Professor Patrick Chinnery
Mitochondrial optic neuropathies - Disease mechanisms and therapeutic strategies2011
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution2011
Dr Patrick Yu Wai Man
Professor Mike Trenell
Dr Kieren Hollingsworth
Philip Griffiths
Professor Patrick Chinnery
et al.
OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy2011
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Philip Griffiths
Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations2011
Joanna Stewart
Kamil Sitarz
Professor Rita Horvath
Dr Angela Pyle
Dr Patrick Yu Wai Man
et al.
POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts2011
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation [reply]2011
Dr Patrick Yu Wai Man
Philip Griffiths
Steroids for traumatic optic neuropathy2011
Dr Mark Baker
Dr Karen Fisher
Professor Roger Whittaker
Philip Griffiths
Dr Patrick Yu Wai Man
et al.
Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy2011
Dr Gavin Hudson
Dr Patrick Yu Wai Man
Philip Griffiths
Professor Rita Horvath
Professor Patrick Chinnery
et al.
Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON2011
Dr Patrick Yu Wai Man
Kamil Sitarz
Dr David Samuels
Philip Griffiths
Dr Amy Reeve
et al.
OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules2010
Dr Laura Greaves
Dr Patrick Yu Wai Man
Kim Krishnan
Nina Beadle
Dr Martin Barron
et al.
Mitochondrial DNA Defects and Selective Extraocular Muscle Involvement in CPEO2010
Dr Patrick Yu Wai Man
Philip Griffiths
Professor Grainne Gorman
Professor Roger Whittaker
Dr Mark Baker
et al.
Multi-system neurological disease is common in patients with OPA1 mutations2010
Professor Patrick Chinnery
Dr Matthew Jackson
Dr Patrick Yu Wai Man
Professor Grainne Gorman
Michelle Baker
et al.
Mutations in OPA1 expand the clinical phenotype of mitochondrial disease2010
Dr Patrick Yu Wai Man
Joanna Stewart
Dr Gavin Hudson
Dr Richard Andrews
Philip Griffiths
et al.
OPA1 increases the risk of normal but not high tension glaucoma2010
Dr Patrick Yu Wai Man
Dr Gillian Borthwick
Dr Langping He
Geoffrey Taylor
Dr Laura Greaves
et al.
Somatic Mitochondrial DNA Deletions Accumulate to High Levels in Aging Human Extraocular Muscles2010
Dr Patrick Yu Wai Man
Philip Griffiths
Dr Ailbhe Burke
Michael Clarke
Dr Gavin Hudson
et al.
The Prevalence and Natural History of Dominant Optic Atrophy Due to OPA1 Mutations2010
Dr Gavin Hudson
Dr Patrick Yu Wai Man
Philip Griffiths
Professor Patrick Chinnery
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy2010
Matthew Kirkman
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Gene-environment interactions in Leber hereditary optic neuropathy2009
Dr Gavin Hudson
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy2009
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy2009
Dr Patrick Yu Wai Man
Philip Griffiths
Dr Gavin Hudson
Professor Patrick Chinnery
Inherited mitochondrial optic neuropathies2009
Matthew Kirkman
Philip Griffiths
Dr Gavin Hudson
Professor Patrick Chinnery
Dr Patrick Yu Wai Man
et al.
Quality of Life in Patients with Leber Hereditary Optic Neuropathy2009
Dr Patrick Yu Wai Man
Dr Lynsey Cree
Professor Patrick Chinnery
Secondary mtDNA Defects Do Not Cause Optic Nerve Dysfunction in a Mouse Model of Dominant Optic Atrophy2009
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy2009
Dr Patrick Yu Wai Man
Professor Grainne Gorman
Dr David Bateman
Professor Patrick Chinnery
Vertigo and vestibular abnormalities in spinocerebellar ataxia type 62009
Joanna Stewart
Dr Gavin Hudson
Dr Patrick Yu Wai Man
Professor Rita Horvath
Philip Griffiths
et al.
OPA1 in multiple mitochondrial DNA deletion disorders2008
Dr Patrick Yu Wai Man
Stephen Morgan
Anthony Hildreth
Professor David Steel
Efficacy of intracameral and subconjunctival cefuroxime in preventing endophthalmitis after cataract surgery2008
Dr Patrick Yu Wai Man
Philip Griffiths
Professor Patrick Chinnery
Investigation of auditory dysfunction in Leber hereditary optic neuropathy2008
Dr Gavin Hudson
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Leber hereditary optic neuropathy2008
Dr Patrick Yu Wai Man
Dr David Bateman
Dr Gavin Hudson
Philip Griffiths
Professor Patrick Chinnery
et al.
Leber hereditary optic neuropathy presenting in a 75-year-old man2008
Dr Gavin Hudson
Dr Patrick Yu Wai Man
Professor Rita Horvath
Professor Bobby McFarland
Emeritus Professor Doug Turnbull
et al.
Mutations in OPA1 cause multiple mtDNA deletions: a novel disorder of mtDNA maintenance2008
Matthew Kirkman
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
The clinical spectrum of mitochondrial genetic disorders2008
Matthew Kirkman
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
The clinical spectrum of mitochondrial genetic disorders2008
Dr Gavin Hudson
Catherine Mowbray
Dr Angela Pyle
Dr Joanna Elson
Philip Griffiths
et al.
Clinical expression of Leber heriditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background2007
Dr Patrick Yu Wai Man
Dr Margaret Dayan
Giant cell arteritis with normal inflammatory markers2007
Dr Patrick Yu Wai Man
Dr Douglas Crompton
Dr Margaret Dayan
Optic perineuritis as a rare initial presentation of sarcoidosis2007
Dr Patrick Yu Wai Man
Philip Griffiths
Steroids for traumatic optic neuropathy2007
Dr Gavin Hudson
Dr Patrick Yu Wai Man
Philip Griffiths
Professor Rita Horvath
Professor Patrick Chinnery
et al.
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder2005
Dr Patrick Yu Wai Man
Philip Griffiths
Surgery for traumatic optic neuropathy2005
Dr Patrick Yu Wai Man
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees2004
Professor Patrick Chinnery
Dr Patrick Yu Wai Man
Pitfalls in restriction fragment length polymorphism analysis of Leber's hereditary optic neuropathy patients2004
Dr Patrick Yu Wai Man
Philip Griffiths
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
The epidemiology of Leber hereditary optic neuropathy in the North East of England2003
Dr Patrick Yu Wai Man
Dr Christopher Morris
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy2003
Dr Patrick Yu Wai Man
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
Leber hereditary optic neuropathy2002
Dr Patrick Yu Wai Man
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy2002