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ARVO Annual Meeting Abstract June 2020

Neutralising antibody responses to intravitreally delivered AAV2 and exosome-associated AAV2 vectors are associated with a failure of repeated gene transfer following vector readministration in the ipsilateral eye

Michael Whitehead; Andrew Osborne; Peter Widdowson; Patrick Yu-Wai-Man; Keith R Martin

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2441. doi:

ARVO Annual Meeting Abstract June 2020

Bilateral Visual Improvement with Unilateral Gene Therapy for Leber Hereditary Optic Neuropathy (LHON)

Patrick Yu-Wai-Man; Nancy J Newman; Valerio Carelli; Valerie Biousse; Alfredo A. Sadun; Mark L Moster; Catherine Vignal-Clermont; Robert C Sergott; Thomas Klopstock klopstock; Laure Blouin; Magali Taiel; Pierre Burguière; Caroline Chevalier; Barrett Katz; Jose Alain Sahel

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):5181. doi:

ARVO Annual Meeting Abstract June 2020

Next-generation sequencing of the complete mitochondrial genome in individuals with Leber hereditary optic neuropathy negative for the common pathogenic mitochondrial DNA mutations

Srilekha Sundaramurthy; Ambika Selvakumar; Vidhya Dharani; Mathavan Sinnakaruppan; Sripriya Sarangapani; Patrick Yu-Wai-Man

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):5183. doi:

ARVO Annual Meeting Abstract July 2019

Modelling Autosomal Dominant Optic Atrophy using Induced Pluripotent Stem Cells

Paul Edward Sladen; Katarina Jovanovic; Mònica Aguilà; Patrick Yu-Wai-Man; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2864. doi:

ARVO Annual Meeting Abstract July 2019

rAAV2/2- ND4 for the Treatment of Leber Hereditary Optic Neuropathy (LHON): 72-Week Data from the REVERSE Phase III Clinical Trial

Patrick Yu-Wai-Man; Mark Moster; Alfredo A Sadun; Thomas Klopstock; Catherine Vignal-Clermont; Nancy J Newman; Robert C Sergott; Valerio Carelli; Caroline Chevalier; Laure Blouin; Magali Taiel; Barrett Katz; Jose Alain Sahel

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4806. doi:

ARVO Annual Meeting Abstract July 2018

Understanding the onset of Leber's Hereditary Optic Neuropathy

Rustum Karanjia; Henry Liu; Chiara La Morgia; Samir Nazarali; Milton Moraes Filho; Michele Carbonelli; Adriana Berezovsky; Lidia Di Vito; Anna Maria De Negri; Carolina Ramos; Alexander Liam; Rubens Belfort Jr; Solange Salomao; Patrick Yu-Wai-Man; Alfredo A Sadun; Valerio Carelli

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3356. doi:

ARVO Annual Meeting Abstract July 2018

The Impact of Optic Nerve Disorders on Sleep Wake

Sarah Ruth Stevenson; Colm Andrews; Iona Alexander; Marcela Votruba; Patrick Yu-Wai-Man; Susan Downes; Russell Foster

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):619. doi:

ARVO Annual Meeting Abstract July 2018

In vivo vessel volume quantification in Leber's hereditary optic neuropathy (LHON) during the disease conversion and progression

Neringa Jurkute; Adnan Tufail; Pearse Andrew Keane; Andrew Webster; Patrick Yu-Wai-Man; Peter Maloca

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3345. doi:

ARVO Annual Meeting Abstract June 2017

Preliminary Baseline Characteristics of Patients with Leber Hereditary Optic Neuropathy (LHON) Enrolled in the RESCUE and REVERSE Clinical Gene Therapy Trials

Patrick Yu-Wai-Man; Nancy J Newman; Robert Sergott; Molly Scannell Bryan; Valerio Carelli; Thomas Klopstock; Mark Moster; Alfredo A. Sadun; Jose Alain Sahel; Catherine Vignal; Scott Uretsky

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3865. doi:

Visual Neuroscience January 2017

The Pattern of Retinal Ganglion Cell Loss in OPA1 -Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses

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Anna Majander; Catarina João; Andrew T. Rider; G. Bruce Henning; Marcela Votruba; Anthony T. Moore; Patrick Yu-Wai-Man; Andrew Stockman
TAGS: dead on arrival, optic atrophy, autosomal dominant, retinal cone, visual impairment, contrast sensitivity, retinal ganglion cells
Invest. Ophthalmol. Vis. Sci.. 2017; 58(1):502-516. doi: https://doi.org/10.1167/iovs.16-20309

ARVO Annual Meeting Abstract September 2016

Temporal, spatial and chromatic sensitivity losses associated with OPA1 mutations

Anna Majander; Patrick Yu-Wai-Man; Catarina João; Marcela Votruba; Anthony T Moore; Andrew Stockman

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):625. doi:

ARVO Annual Meeting Abstract June 2015

Mitochondrial DNA instability and dysregulated mitochondrial quality control contribute to progressive retinal ganglion cell loss in dominant optic atrophy

Patrick Yu-Wai-Man; Chunyan Liao; Neil Ashley; Padraig James Flannery; Massimo Zeviani; Anna Katharina Simon; Patrick Francis Chinnery; Joanna Poulton

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2604. doi:

ARVO Annual Meeting Abstract April 2014

A national epidemiological study of chronic progressive external ophthalmoplegia in the United Kingdom - molecular genetic features and neurological burden

Patrick Yu-Wai-Man; Anna l Clements; Victoria Nesbitt; Philip G Griffiths; Grainne S Gorman; Andrew M Schaefer; Douglass M Turnbull; Robert W Taylor; Robert McFarland

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):5109. doi:

Research Highlight April 2012

Mitochondrial Dysfunction in Glaucoma—Closing the Loop

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Patrick Yu-Wai-Man

Invest. Ophthalmol. Vis. Sci.. 2012; 53(4):2438. doi: https://doi.org/10.1167/iovs.12-9815

ARVO Annual Meeting Abstract March 2012

Mitofusin 2 (MFN2) Mutations Cause Mitochondrial DNA Instability In Charcot-Marie-Tooth Disease

Patrick Yu-Wai-Man; Kamil S. Sitarz; Joanna D. Stewart; Angela Pyle; Bernd Rautenstrauss; Pavel Seeman; Rita Horvath; Patrick F. Chinnery

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1310. doi:

Biochemistry and Molecular Biology July 2010

Mitochondrial DNA Defects and Selective Extraocular Muscle Involvement in CPEO

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Laura C. Greaves; Patrick Yu-Wai-Man; Emma L. Blakely; Kim J. Krishnan; Nina E. Beadle; Jamie Kerin; Martin J. Barron; Philip G. Griffiths; Alison J. Dickinson; Douglass M. Turnbull; Robert W. Taylor
TAGS: dna, mitochondrial, ophthalmoplegia, external, progressive, chronic, muscle of orbit, skeletal muscles
Invest. Ophthalmol. Vis. Sci.. 2010; 51(7):3340-3346. doi: https://doi.org/10.1167/iovs.09-4659

Biochemistry and Molecular Biology July 2010

Somatic Mitochondrial DNA Deletions Accumulate to High Levels in Aging Human Extraocular Muscles

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Patrick Yu-Wai-Man; Joey Lai-Cheong; Gillian M. Borthwick; Langping He; Geoffrey A. Taylor; Laura C. Greaves; Robert W. Taylor; Philip G. Griffiths; Douglass M. Turnbull
TAGS: aging, dna, mitochondrial, muscle of orbit, mitochondria
Invest. Ophthalmol. Vis. Sci.. 2010; 51(7):3347-3353. doi: https://doi.org/10.1167/iovs.09-4660

Biochemistry and Molecular Biology October 2009

Secondary mtDNA Defects Do Not Cause Optic Nerve Dysfunction in a Mouse Model of Dominant Optic Atrophy

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Patrick Yu-Wai-Man; Vanessa J. Davies; Malgorzata J. Piechota; Lynsey M. Cree; Marcela Votruba; Patrick F. Chinnery
TAGS: dna, mitochondrial, mice, optic atrophy, autosomal dominant, optic nerve, pathophysiology
Invest. Ophthalmol. Vis. Sci.. 2009; 50(10):4561-4566. doi: https://doi.org/10.1167/iovs.09-3634

Clinical and Epidemiologic Research July 2009

Quality of Life in Patients with Leber Hereditary Optic Neuropathy

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Matthew Anthony Kirkman; Alex Korsten; Miriam Leonhardt; Konstantin Dimitriadis; Ireneaus F. De Coo; Thomas Klopstock; Philip G. Griffiths; Gavin Hudson; Patrick F. Chinnery; Patrick Yu-Wai-Man
TAGS: optic atrophy, hereditary, leber, quality of life, visual impairment
Invest. Ophthalmol. Vis. Sci.. 2009; 50(7):3112-3115. doi: https://doi.org/10.1167/iovs.08-3166

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Neutralising antibody responses to intravitreally delivered AAV2 and exosome-associated AAV2 vectors are associated with a failure of repeated gene transfer following vector readministration in the ipsilateral eye

Bilateral Visual Improvement with Unilateral Gene Therapy for Leber Hereditary Optic Neuropathy (LHON)

Next-generation sequencing of the complete mitochondrial genome in individuals with Leber hereditary optic neuropathy negative for the common pathogenic mitochondrial DNA mutations

Modelling Autosomal Dominant Optic Atrophy using Induced Pluripotent Stem Cells

rAAV2/2- ND4 for the Treatment of Leber Hereditary Optic Neuropathy (LHON): 72-Week Data from the REVERSE Phase III Clinical Trial

Understanding the onset of Leber's Hereditary Optic Neuropathy

The Impact of Optic Nerve Disorders on Sleep Wake

In vivo vessel volume quantification in Leber's hereditary optic neuropathy (LHON) during the disease conversion and progression

Preliminary Baseline Characteristics of Patients with Leber Hereditary Optic Neuropathy (LHON) Enrolled in the RESCUE and REVERSE Clinical Gene Therapy Trials

The Pattern of Retinal Ganglion Cell Loss in OPA1 -Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses

Temporal, spatial and chromatic sensitivity losses associated with OPA1 mutations

Mitochondrial DNA instability and dysregulated mitochondrial quality control contribute to progressive retinal ganglion cell loss in dominant optic atrophy

A national epidemiological study of chronic progressive external ophthalmoplegia in the United Kingdom - molecular genetic features and neurological burden

Mitochondrial Dysfunction in Glaucoma—Closing the Loop

Mitofusin 2 (MFN2) Mutations Cause Mitochondrial DNA Instability In Charcot-Marie-Tooth Disease

Mitochondrial DNA Defects and Selective Extraocular Muscle Involvement in CPEO

Somatic Mitochondrial DNA Deletions Accumulate to High Levels in Aging Human Extraocular Muscles

Secondary mtDNA Defects Do Not Cause Optic Nerve Dysfunction in a Mouse Model of Dominant Optic Atrophy

Quality of Life in Patients with Leber Hereditary Optic Neuropathy

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