List of works - Patrick Yu-Wai-Man

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

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

scientific article

A multiple sclerosis-like disorder in patients withOPA1mutations

scientific article (publication date: 19 July 2016)

A neurodegenerative perspective on mitochondrial optic neuropathies

scientific article

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

scientific article

A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy

scientific article

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes

scientific article (publication date: May 2014)

Assessment of visual function in chronic progressive external ophthalmoplegia

scientific article

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

scientific article

Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy

scientific article published on 01 December 2020

Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction

scientific article published on 25 March 2016

CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

scientific article

Childhood-onset Leber hereditary optic neuropathy

scientific article

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

scientific article

Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations

scientific article

Clinical utility gene card for: Wolfram syndrome

scientific article

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches

scientific article published on 24 August 2018

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells

scientific article published in Scientific Reports

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.

scientific article

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies

scientific article published in August 2016

Delayed Optochiasmal Arachnoiditis following Intervention for a Subarachnoid Haemorrhage

scientific article

Diagnostic investigations of patients with chronic progressive external ophthalmoplegia

Disorders of the optic nerve in mitochondrial cytopathies: new ideas on pathogenesis and therapeutic targets

scientific article published in June 2012

Disturbed mitochondrial dynamics and neurodegenerative disorders

scientific article published on 09 December 2014

Dominant Optic Atrophy: Novel OPA1 Mutations and Revised Prevalence Estimates ⬇️

scientific article published on August 1, 2013

Dysfunctional mitochondrial maintenance: what breaks the circle of life?

scientific article published on 23 January 2012

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

scientific article published on 14 December 2016

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

scientific article

Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

scientific article published on 4 October 2017

Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia

scientific article published on 2 February 2016

Evaluating the therapeutic potential of idebenone and related quinone analogues in Leber hereditary optic neuropathy

scientific article published on 13 January 2017

Exome sequencing in undiagnosed inherited and sporadic ataxias

scientific article

Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia

scientific article

Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disorders

scientific article

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

scientific article published on 11 November 2015

Gene-environment interactions in Leber hereditary optic neuropathy

scientific article published on 12 June 2009

Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

scientific article published on 16 April 2020

Genetic manipulation for inherited neurodegenerative diseases: myth or reality?

scientific article

Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies

scientific article

Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy.

scientific article published on May 2009

Genetic variations within the OPA1 gene are not associated with neuromyelitis optica

scientific article

High-throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts

scientific article published on 20 May 2021

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

scientific article published on 3 March 2016

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance

scientific article published on 14 November 2019

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

scientific article

Inherited mitochondrial optic neuropathies

scientific article

International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy

scientific article

Investigation of auditory dysfunction in Leber hereditary optic neuropathy

scientific article published in September 2008

Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations

scientific article published on 10 February 2016

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization

scientific article

Leber Hereditary Optic Neuropathy - Therapeutic Challenges and Early Promise

scientific article

Leber Hereditary Optic Neuropathy-Light at the End of the Tunnel?

scientific article published on 15 July 2018

Leber hereditary optic neuropathy presenting in a 75-year-old man

scientific article published on 01 June 2008

Leber hereditary optic neuropathy: bridging the translational gap.

scientific article published on 24 June 2017

Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients

scientific article

MFN2 mutations cause compensatory mitochondrial DNA proliferation

scientific article published on 4 April 2012

Management of ophthalmologic manifestations of mitochondrial diseases

scientific article

Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.

scientific article

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies

scientific article

Multi-system neurological disease is common in patients with OPA1 mutations

scientific article

Multirater Validation of Peripapillary Hyperreflective Ovoid Mass-like Structures (PHOMS)

scientific article published on 16 July 2020

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

scientific article

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

scientific article published on 20 May 2020

Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy.

scientific article published in December 2013

New treatments for mitochondrial disease-no time to drop our standards

scientific article published on 02 July 2013

OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS

scientific article published on 01 November 2008

OPA1 increases the risk of normal but not high tension glaucoma

scientific article published on 5 July 2009

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

scientific article published on 25 October 2010

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

scientific article

OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy

scientific article published on 14 October 2010

OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy

scientific article

POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.

scientific article

Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations

scientific article

Prevalence of neurogenetic disorders in the North of England

scientific article

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

scientific article published on 28 March 2015

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing

scientific article published in October 2012

Quality of life in patients with leber hereditary optic neuropathy

scientific article

Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy

scientific article

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

scientific journal article

Recessive spastic paraparesis associated with complex I deficiency due toMTHFRmutations

article

Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations

scientific article published on 21 August 2014

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

scientific article published on 12 February 2015

Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

scientific article published on 8 January 2015

Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

scientific article published on 10 July 2014

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China

scientific article published on 30 December 2015

Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

scientific article published on 7 May 2015

Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion

scientific article published on 10 December 2015

Reply: Sensorineural hearing loss in OPA1-linked disorders ⬇️

scientific article published on February 4, 2013

Reply: Spastic paraplegia in ‘dominant optic atrophy plus’ phenotype due to OPA1 mutation

scientific article published on November 2011

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration

scientific article published on 31 July 2019

Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy

scientific article

Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles

scientific article

Steroids for traumatic optic neuropathy

scientific article (published 2013-06-17)

Steroids for traumatic optic neuropathy

scientific article (publication date: 19 January 2011)

Steroids for traumatic optic neuropathy

scientific article (publication date: 17 October 2007)

Steroids for traumatic optic neuropathy

scientific article

Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy

scientific article

Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy

scientific article published on 6 October 2009

Surgery for traumatic optic neuropathy

scientific article

Surgery for traumatic optic neuropathy

scientific article (publication date: 19 July 2004)

Surgery for traumatic optic neuropathy.

scientific article

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

scientific article published on January 2017

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

scientific article published on 22 April 2016

The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia

scientific article published on 13 December 2012

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations

scientific article

Traumatic optic neuropathy-Clinical features and management issues

scientific article published on March 2015

Treatment strategies for Leber hereditary optic neuropathy

scientific article published on 01 February 2019

Treatment strategies for inherited optic neuropathies: past, present and future

scientific article

Universal heteroplasmy of human mitochondrial DNA.

scientific article

Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON.

scientific article

Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy.

scientific article

Vertigo and vestibular abnormalities in spinocerebellar ataxia type 6.

scientific article published in January 2009

Visual and psychological morbidity among patients with autosomal dominant optic atrophy

scientific article published on 4 March 2013

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression

scientific article published in 2022

metabolic profiling of Parkinson's disease and mild cognitive impairment

scientific article

List of works by Patrick Yu-Wai-Man

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

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

A multiple sclerosis-like disorder in patients withOPA1mutations

A neurodegenerative perspective on mitochondrial optic neuropathies

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes

Assessment of visual function in chronic progressive external ophthalmoplegia

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy

Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction

CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

Childhood-onset Leber hereditary optic neuropathy

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations

Clinical utility gene card for: Wolfram syndrome

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies

Delayed Optochiasmal Arachnoiditis following Intervention for a Subarachnoid Haemorrhage

Diagnostic investigations of patients with chronic progressive external ophthalmoplegia

Disorders of the optic nerve in mitochondrial cytopathies: new ideas on pathogenesis and therapeutic targets

Disturbed mitochondrial dynamics and neurodegenerative disorders

Dominant Optic Atrophy: Novel OPA1 Mutations and Revised Prevalence Estimates ⬇️

Dysfunctional mitochondrial maintenance: what breaks the circle of life?

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia

Evaluating the therapeutic potential of idebenone and related quinone analogues in Leber hereditary optic neuropathy

Exome sequencing in undiagnosed inherited and sporadic ataxias

Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia

Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disorders

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

Gene-environment interactions in Leber hereditary optic neuropathy

Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

Genetic manipulation for inherited neurodegenerative diseases: myth or reality?

Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies

Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy.

Genetic variations within the OPA1 gene are not associated with neuromyelitis optica

High-throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

Inherited mitochondrial optic neuropathies

International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy

Investigation of auditory dysfunction in Leber hereditary optic neuropathy

Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization

Leber Hereditary Optic Neuropathy - Therapeutic Challenges and Early Promise

Leber Hereditary Optic Neuropathy-Light at the End of the Tunnel?

Leber hereditary optic neuropathy presenting in a 75-year-old man

Leber hereditary optic neuropathy: bridging the translational gap.

Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients

MFN2 mutations cause compensatory mitochondrial DNA proliferation

Management of ophthalmologic manifestations of mitochondrial diseases

Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies

Multi-system neurological disease is common in patients with OPA1 mutations

Multirater Validation of Peripapillary Hyperreflective Ovoid Mass-like Structures (PHOMS)

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy.

New treatments for mitochondrial disease-no time to drop our standards

OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS

OPA1 increases the risk of normal but not high tension glaucoma

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy

OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy

POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.

Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations

Prevalence of neurogenetic disorders in the North of England

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing

Quality of life in patients with leber hereditary optic neuropathy

Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies