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 elements | 2022 |
|
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 delay | 2021 |
|
Dr Patrick Yu Wai Man
| Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches | 2019 |
|
Dr Florence Burte Dr Patrick Yu Wai Man
| Monoamine oxidase-A promotes protective autophagy in human SH-SY5Y neuroblastoma cells through Bcl-2 phosphorylation | 2019 |
|
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 cells | 2018 |
|
Dr Patrick Yu Wai Man
| GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes | 2018 |
|
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 interactions | 2017 |
|
Professor Patrick Chinnery Dr Patrick Yu Wai Man
| Childhood-onset Leber hereditary optic neuropathy | 2017 |
|
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 project | 2017 |
|
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/ddx060 | 2017 |
|
Dr Patrick Yu Wai Man
| Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations | 2017 |
|
Dr Patrick Yu Wai Man
| Erratum to: Genetic Counselling for Maternally Inherited Mitochondrial Disorders | 2017 |
|
Dr Patrick Yu Wai Man David Moore Dr Florence Burte
| Evaluating the therapeutic potential of idebenone and related quinone analogues in Leber hereditary optic neuropathy | 2017 |
|
Dr Patrick Yu Wai Man
| Genetic Counselling for Maternally Inherited Mitochondrial Disorders | 2017 |
|
Dr Patrick Yu Wai Man
| Harnessing the power of genetic engineering for patients with mitochondrial eye diseases | 2017 |
|
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 mutation | 2017 |
|
Dr Patrick Yu Wai Man
| Inherited eye-related disorders due to mitochondrial dysfunction | 2017 |
|
Dr Patrick Yu Wai Man
| Leber hereditary optic neuropathy: bridging the translational gap | 2017 |
|
Dr Patrick Yu Wai Man
| Management of ophthalmologic manifestations of mitochondrial diseases | 2017 |
|
Dr Florence Burte Dr Dave Houghton Hannah Lowes Dr Angela Pyle Sarah Nesbitt et al. | Metabolic profiling of Parkinson's disease and mild cognitive impairment | 2017 |
|
Dr Patrick Yu Wai Man
| Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia | 2017 |
|
Professor Patrick Chinnery Dr Patrick Yu Wai Man
| The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy | 2017 |
|
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 Losses | 2017 |
|
Dr Florence Burte Dr Patrick Yu Wai Man
| CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis | 2016 |
|
Dr Patrick Yu Wai Man Dr Holly Duncan Dr Joseph Guadagno Professor Patrick Chinnery
| A multiple sclerosis-like disorder in patients with OPA1 mutations | 2016 |
|
Dr Patrick Yu Wai Man Dr Florence Burte
| A neurodegenerative perspective on mitochondrial optic neuropathies | 2016 |
|
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 dysfunction | 2016 |
|
Dr Patrick Yu Wai Man
| Clinical utility gene card for: Wolfram syndrome | 2016 |
|
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 Deficiencies | 2016 |
|
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 mutation | 2016 |
|
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 childhood | 2016 |
|
Dr Holly Duncan Professor Patrick Chinnery Dr Patrick Yu Wai Man
| Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations | 2016 |
|
Dr Patrick Yu Wai Man Professor Patrick Chinnery
| Leber Hereditary Optic Neuropathy | 2016 |
|
Dr Patrick Yu Wai Man
| Mitochondrial Optic Neuropathies - Clinical Manifestations and Natural History | 2016 |
|
David Moore Dr Patrick Yu Wai Man
| Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China | 2016 |
|
Dr Patrick Yu Wai Man Professor Gavin Hudson Professor Patrick Chinnery
| Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion | 2016 |
|
Dr Yi Ng Dr Patrick Yu Wai Man Professor Robert Taylor
| The m.13051G > A mitochondrial DNA mutation results in variable neurology and activated mitophagy | 2016 |
|
Dr Patrick Yu Wai Man Professor Patrick Chinnery
| Autosomal Dominant Optic Atrophy | 2015 |
|
Dr Patrick Yu Wai Man
| Chronic Progressive External Ophthalmoplegia Secondary to Nuclear-Encoded Mitochondrial Genes | 2015 |
|
Dr Florence Burte Professor Patrick Chinnery Dr Patrick Yu Wai Man
| Disturbed mitochondrial dynamics and neurodegenerative disorders | 2015 |
|
Dr Angela Pyle Tania Smertenko Dr David Bargiela Dr Helen Griffin Dr Jennifer Duff et al. | Exome sequencing in undiagnosed inherited and sporadic ataxias | 2015 |
|
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 Kingdom | 2015 |
|
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 England | 2015 |
|
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 disease | 2015 |
|
David Moore Professor Patrick Chinnery Dr Patrick Yu Wai Man
| Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies | 2015 |
|
Dr Patrick Yu Wai Man
| Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation | 2015 |
|
Dr Patrick Yu Wai Man Professor Patrick Chinnery
| Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations | 2015 |
|
Dr Patrick Yu Wai Man
| Therapeutic Approaches to Inherited Optic Neuropathies | 2015 |
|
Dr Patrick Yu Wai Man
| Traumatic optic neuropathy-Clinical features and management issues | 2015 |
|
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 Netherlands | 2014 |
|
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 phenotypes | 2014 |
|
Professor Gavin Hudson Dr Angela Pyle Dr Patrick Yu Wai Man Professor Patrick Chinnery
| Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy | 2014 |
|
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 patients | 2014 |
|
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 maintenance | 2014 |
|
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 OPA1 | 2014 |
|
David Moore Dr Patrick Yu Wai Man
| Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis | 2014 |
|
David Moore Dr Patrick Yu Wai Man
| Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease | 2014 |
|
Dr Patrick Yu Wai Man Professor Patrick Chinnery
| Treatment strategies for inherited optic neuropathies: past, present and future | 2014 |
|
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 measures | 2013 |
|
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 mutations | 2013 |
|
Dr Patrick Yu Wai Man Professor Patrick Chinnery
| Defects in mitochondrial dynamics and mitochondrial DNA instability | 2013 |
|
Dr Patrick Yu Wai Man Professor Patrick Chinnery
| Dominant Optic Atrophy: Novel OPA1 Mutations and Revised Prevalence Estimates | 2013 |
|
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 Ophthalmoplegia | 2013 |
|
Dr Patrick Yu Wai Man Nwanyieze Nwali Philip Griffiths Professor Patrick Chinnery
| Idebenone treatment for Leber hereditary optic neuropathy - Past, present, and future | 2013 |
|
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 Hybridization | 2013 |
|
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 Epilepsy | 2013 |
|
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 standards | 2013 |
|
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 neuropathy | 2013 |
|
Anais Thouin Philip Griffiths Professor 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 Neuropathy | 2013 |
|
Dr Kamil Sitarz Dr Angela Pyle Professor Rita Horvath Philip Griffiths Professor Patrick Chinnery et al. | Redefining Wolfram syndrome in the molecular Era | 2013 |
|
Dr Patrick Yu Wai Man Professor Patrick Chinnery
| Reply: Sensorineural hearing loss in OPA1-linked disorders | 2013 |
|
Dr Patrick Yu Wai Man Philip Griffiths
| Steroids for traumatic optic neuropathy | 2013 |
|
Dr Patrick Yu Wai Man
| The expanding clinical spectrum of dominant optic atrophy | 2013 |
|
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 paraplegia | 2013 |
|
Philip Griffiths Professor Patrick Chinnery Dr Patrick Yu Wai Man
| Visual and psychological morbidity among patients with autosomal dominant optic atrophy | 2013 |
|
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 atrophy | 2012 |
|
Dr Patrick Yu Wai Man Professor Grainne Gorman Professor Robert Taylor Emeritus Professor Doug Turnbull
| Diagnostic investigations of patients with chronic progressive external ophthalmoplegia | 2012 |
|
Kamil Sitarz Professor Patrick Chinnery Dr Patrick Yu Wai Man
| Disorders of the Optic Nerve in Mitochondrial Cytopathies: New Ideas on Pathogenesis and Therapeutic Targets | 2012 |
|
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 Professor Gavin Hudson Professor Rita Horvath Professor Patrick Chinnery et al. | Genetic variations within the OPA1 gene are not associated with neuromyelitis optica | 2012 |
|
Dr Patrick Yu Wai Man Professor Patrick Chinnery
| Leber hereditary optic neuropathy – Therapeutic challenges and early promise | 2012 |
|
Kamil Sitarz Dr Patrick Yu Wai Man Dr Angela Pyle Joanna Stewart Professor Rita Horvath et al. | MFN2 mutations cause compensatory mitochondrial DNA proliferation | 2012 |
|
Dr Kamil Sitarz Dr Patrick Yu Wai Man Dr Angela Pyle Joanna Stewart Professor Rita Horvath et al. | MFN2 mutations cause compensatory mitochondrial DNA proliferation | 2012 |
|
Dr Patrick Yu Wai Man
| Mitochondrial Dysfunction in Glaucoma-Closing the Loop | 2012 |
|
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 Sequencing | 2012 |
|
Dr Patrick Yu Wai Man Professor Robert Taylor Professor Patrick Chinnery
| Recessive spastic paraparesis associated with complex I deficiency due to MTHFR mutations | 2012 |
|
Dr Brendan Payne Dr Ian Wilson Dr Patrick Yu Wai Man Dr Jonathan Coxhead Professor David Deehan et al. | Universal heteroplasmy of human mitochondrial DNA | 2012 |
|
Dr Patrick Yu Wai Man Professor Patrick Chinnery
| A randomised, placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy | 2011 |
|
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 neuropathy | 2011 |
|
Dr Patrick Yu Wai Man
| Genetic Screening for OPA1 and OPA3 Mutations in Patients with Suspected Inherited Optic Neuropathies | 2011 |
|
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 promise | 2011 |
|
Dr Patrick Yu Wai Man Philip Griffiths Professor Patrick Chinnery
| Mitochondrial optic neuropathies - Disease mechanisms and therapeutic strategies | 2011 |
|
Dr Patrick Yu Wai Man Professor Patrick Chinnery
| OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution | 2011 |
|
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 atrophy | 2011 |
|
Dr Patrick Yu Wai Man Professor Patrick Chinnery Philip Griffiths
| Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations | 2011 |
|
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 fibroblasts | 2011 |
|
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 neuropathy | 2011 |
|
Professor 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 atrophy | 2011 |
|
Professor 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 LHON | 2011 |
|
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 molecules | 2010 |
|
Professor 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 CPEO | 2010 |
|
Dr Patrick Yu Wai Man Philip Griffiths Professor Grainne Gorman Professor Roger Whittaker Professor Mark Baker et al. | Multi-system neurological disease is common in patients with OPA1 mutations | 2010 |
|
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 disease | 2010 |
|
Dr Patrick Yu Wai Man Joanna Stewart Professor Gavin Hudson Dr Richard Andrews Philip Griffiths et al. | OPA1 increases the risk of normal but not high tension glaucoma | 2010 |
|
Dr Patrick Yu Wai Man Dr Gillian Borthwick Dr Langping He Geoffrey Taylor Professor Laura Greaves et al. | Somatic Mitochondrial DNA Deletions Accumulate to High Levels in Aging Human Extraocular Muscles | 2010 |
|
Dr Patrick Yu Wai Man Philip Griffiths Dr Ailbhe Burke Michael Clarke Professor Gavin Hudson et al. | The Prevalence and Natural History of Dominant Optic Atrophy Due to OPA1 Mutations | 2010 |
|
Professor 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 neuropathy | 2010 |
|
Matthew Kirkman Dr Patrick Yu Wai Man Professor Patrick Chinnery
| Gene-environment interactions in Leber hereditary optic neuropathy | 2009 |
|
Professor 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 neuropathy | 2009 |
|
Dr Patrick Yu Wai Man Professor Patrick Chinnery
| Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy | 2009 |
|
Dr Patrick Yu Wai Man Philip Griffiths Professor Gavin Hudson Professor Patrick Chinnery
| Inherited mitochondrial optic neuropathies | 2009 |
|
Matthew Kirkman Philip Griffiths Professor Gavin Hudson Professor Patrick Chinnery Dr Patrick Yu Wai Man et al. | Quality of Life in Patients with Leber Hereditary Optic Neuropathy | 2009 |
|
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 Atrophy | 2009 |
|
Dr Patrick Yu Wai Man Professor Patrick Chinnery
| Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy | 2009 |
|
Dr Patrick Yu Wai Man Professor Grainne Gorman Dr David Bateman Professor Patrick Chinnery
| Vertigo and vestibular abnormalities in spinocerebellar ataxia type 6 | 2009 |
|
Joanna Stewart Professor Gavin Hudson Dr Patrick Yu Wai Man Professor Rita Horvath Philip Griffiths et al. | OPA1 in multiple mitochondrial DNA deletion disorders | 2008 |
|
Dr Patrick Yu Wai Man Stephen Morgan Anthony Hildreth Professor David Steel
| Efficacy of intracameral and subconjunctival cefuroxime in preventing endophthalmitis after cataract surgery | 2008 |
|
Dr Patrick Yu Wai Man Philip Griffiths Professor Patrick Chinnery
| Investigation of auditory dysfunction in Leber hereditary optic neuropathy | 2008 |
|
Professor Gavin Hudson Dr Patrick Yu Wai Man Professor Patrick Chinnery
| Leber hereditary optic neuropathy | 2008 |
|
Dr Patrick Yu Wai Man Dr David Bateman Professor Gavin Hudson Philip Griffiths Professor Patrick Chinnery et al. | Leber hereditary optic neuropathy presenting in a 75-year-old man | 2008 |
|
Professor 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 maintenance | 2008 |
|
Matthew Kirkman Dr Patrick Yu Wai Man Professor Patrick Chinnery
| The clinical spectrum of mitochondrial genetic disorders | 2008 |
|
Matthew Kirkman Dr Patrick Yu Wai Man Professor Patrick Chinnery
| The clinical spectrum of mitochondrial genetic disorders | 2008 |
|
Professor 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 background | 2007 |
|
Dr Patrick Yu Wai Man Dr Margaret Dayan
| Giant cell arteritis with normal inflammatory markers | 2007 |
|
Dr Patrick Yu Wai Man Dr Douglas Crompton Dr Margaret Dayan
| Optic perineuritis as a rare initial presentation of sarcoidosis | 2007 |
|
Dr Patrick Yu Wai Man Philip Griffiths
| Steroids for traumatic optic neuropathy | 2007 |
|
Professor 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 disorder | 2005 |
|
Dr Patrick Yu Wai Man Philip Griffiths
| Surgery for traumatic optic neuropathy | 2005 |
|
Dr Patrick Yu Wai Man Emeritus Professor Doug Turnbull Professor Patrick Chinnery
| Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees | 2004 |
|
Professor Patrick Chinnery Dr Patrick Yu Wai Man
| Pitfalls in restriction fragment length polymorphism analysis of Leber's hereditary optic neuropathy patients | 2004 |
|
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 England | 2003 |
|
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 neuropathy | 2003 |
|
Dr Patrick Yu Wai Man Emeritus Professor Doug Turnbull Professor Patrick Chinnery
| Leber hereditary optic neuropathy | 2002 |
|
Dr Patrick Yu Wai Man Emeritus Professor Doug Turnbull Professor Patrick Chinnery
| NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy | 2002 |
|