List of works - Marcela Votruba

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy

scientific article (publication date: June 2002)

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect

scientific article (publication date: November 2001)

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene

scientific article (publication date: 2002)

A missense mutation in the murine Opa3 gene models human Costeff syndrome

scientific journal article

A neurodegenerative perspective on mitochondrial optic neuropathies

scientific article

A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy

scientific article

A randomized, placebo-controlled trial of the benzoquinone idebenone in a mouse model of OPA1-related dominant optic atrophy reveals a limited therapeutic effect on retinal ganglion cell dendropathy and visual function

scientific article published on 25 January 2016

An "overtrained" ophthalmologist responds ⬇️

scientific article published on November 1, 2001

Association between autosomal dominant optic atrophy and Ewing sarcoma

scientific article published on 01 November 1999

Can the retina be used to diagnose and plot the progression of Alzheimer's disease?

scientific article published on 9 June 2017

Changes in corneal collagen architecture during mouse postnatal development.

scientific article published on 20 January 2010

Childhood-onset Leber hereditary optic neuropathy

scientific article

Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.

scientific article published on 27 August 2014

Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy

scientific article published on 01 March 1998

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

scientific article published on 24 August 2018

Colour discrimination ellipses in patients with dominant optic atrophy

scientific article published on 01 November 1998

Comparative study of fibrillar collagen arrangement in the corneas of primates and other mammals

scientific article published on 01 December 2007

Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method

Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer

scientific article published on June 2004

Discovery of Novel 2-Aniline-1,4-naphthoquinones as Potential New Drug Treatment for Leber's Hereditary Optic Neuropathy (LHON)

scientific article published on 12 November 2020

Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrity

scientific article published on 22 April 2016

Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY ⬇️

scientific article published on October 1, 1998

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

scientific article published on 14 December 2016

Electrophysiological ON and OFF Responses in Autosomal Dominant Optic Atrophy.

scientific article published in December 2015

Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter

scientific article published on 01 January 1998

Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene.

scientific article

Focus on molecules: the OPA1 protein.

scientific article

Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q

scientific article

Guidelines for the use and interpretation of assays for monitoring autophagy

scientific article

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

scientific article

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

scientific article (publication date: 16 November 2001)

Leber's optic neuropathy - visual return on alcohol cessation

scientific article published on 09 March 2012

MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy

scientific article published on 01 March 2000

Mean cellular volume in a patient with Leber's optic neuropathy and visual return on alcohol cessation.

scientific article published on 18 March 2013

Mitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency.

scientific article published on 28 July 2016

Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III

scientific journal article

Molecular genetic basis of primary inherited optic neuropathies.

scientific article

Mouse models of dominant optic atrophy: what do they tell us about the pathophysiology of visual loss?

scientific article published on 27 August 2010

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

scientific article

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

scientific article published on 20 May 2020

Neovascular age-related macular degeneration: present and future treatment options.

scientific article

Nicotinamide provides neuroprotection in glaucoma by protecting against mitochondrial and metabolic dysfunction

scientific article published on 24 April 2021

Non-image-forming light driven functions are preserved in a mouse model of autosomal dominant optic atrophy

scientific article

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

scientific article published on 7 February 2013

OPA1 analysis in an international series of probands with bilateral optic atrophy

scientific article

OPA1 deficiency accelerates hippocampal synaptic remodelling and age-related deficits in learning and memory

scientific article published on 15 July 2020

OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy.

scientific article published on 21 February 2009

OPA1 mutation and late-onset cardiomyopathy: mitochondrial dysfunction and mtDNA instability

scientific article published on 25 October 2012

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

scientific article

Opa1 Deficiency Leads to Diminished Mitochondrial Bioenergetics With Compensatory Increased Mitochondrial Motility

scientific article published on 01 June 2020

Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function

scientific article published on 11 April 2007

Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy

scientific article published on 3 September 2010

Opa1 is essential for retinal ganglion cell synaptic architecture and connectivity.

scientific article published in February 2012

Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome

scientific journal article

Perceptions and understanding of genetics and genetic eye disease and attitudes to genetic testing and gene therapy in a primary eye care setting.

scientific article published on 28 November 2014

Peripapillary microcirculation in Leber hereditary optic neuropathy

scientific article published on 26 September 2018

Photostimulation of mitochondria as a treatment for retinal neurodegeneration

scientific article published on 09 May 2017

Potential Therapeutic Benefit of NAD+ Supplementation for Glaucoma and Age-Related Macular Degeneration

scientific article published on 19 September 2020

Primary monophasic synovial sarcoma of the conjunctiva.

scientific article published on December 2002

Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy

scientific article published on 22 September 2020

Red Light Treatment in an Axotomy Model of Neurodegeneration.

scientific article published on 8 June 2016

Retinal changes in a patient with acquired partial lipodystrophy (Laignel-Lavastine and Viard Syndrome)

scientific article published on 17 February 2015

Retinal ganglion cell dendritic degeneration in a mouse model of Alzheimer's disease.

scientific article published on 7 March 2013

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

Specific deficits in visual electrophysiology in a mouse model of dominant optic atrophy

scientific article published on 22 July 2011

Symmetric arrangement of mitochondria:plasma membrane contacts between adjacent photoreceptor cells regulated by Opa1

scientific article published on 22 June 2020

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 Relationship Between the Photopic Negative Response and Retinal Ganglion Cell Topography

scientific article published on 01 May 2019

The Sight Loss and Vision Priority Setting Partnership (SLV-PSP): overview and results of the research prioritisation survey process

scientific article

The case of the disappearing bullet

scientific article published on 01 January 1994

The management of solitary trichoepithelioma versus basal cell carcinoma ⬇️

scientific article published on January 1, 1998

The pupil in dominant optic atrophy

scientific article published on 01 March 2001

Thymoxamine in the treatment of traumatic mydriasis.

scientific article published on October 1993

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

scientific article

Validating the RedMIT/GFP-LC3 Mouse Model by Studying Mitophagy in Autosomal Dominant Optic Atrophy Due to the OPA1Q285STOP Mutation

scientific article published on 19 September 2018

Visual and psychological morbidity among patients with autosomal dominant optic atrophy

scientific article published on 4 March 2013

List of works by Marcela Votruba

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene

A missense mutation in the murine Opa3 gene models human Costeff syndrome

A neurodegenerative perspective on mitochondrial optic neuropathies

A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy

A randomized, placebo-controlled trial of the benzoquinone idebenone in a mouse model of OPA1-related dominant optic atrophy reveals a limited therapeutic effect on retinal ganglion cell dendropathy and visual function

An "overtrained" ophthalmologist responds ⬇️

Association between autosomal dominant optic atrophy and Ewing sarcoma

Can the retina be used to diagnose and plot the progression of Alzheimer's disease?

Changes in corneal collagen architecture during mouse postnatal development.

Childhood-onset Leber hereditary optic neuropathy

Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.

Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy

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

Colour discrimination ellipses in patients with dominant optic atrophy

Comparative study of fibrillar collagen arrangement in the corneas of primates and other mammals

Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method

Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer

Discovery of Novel 2-Aniline-1,4-naphthoquinones as Potential New Drug Treatment for Leber's Hereditary Optic Neuropathy (LHON)

Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrity

Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY ⬇️

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

Electrophysiological ON and OFF Responses in Autosomal Dominant Optic Atrophy.

Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter

Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene.

Focus on molecules: the OPA1 protein.

Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q

Guidelines for the use and interpretation of assays for monitoring autophagy

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

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

Leber's optic neuropathy - visual return on alcohol cessation

MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy

Mean cellular volume in a patient with Leber's optic neuropathy and visual return on alcohol cessation.

Mitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency.

Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III

Molecular genetic basis of primary inherited optic neuropathies.

Mouse models of dominant optic atrophy: what do they tell us about the pathophysiology of visual loss?

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

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

Neovascular age-related macular degeneration: present and future treatment options.

Nicotinamide provides neuroprotection in glaucoma by protecting against mitochondrial and metabolic dysfunction

Non-image-forming light driven functions are preserved in a mouse model of autosomal dominant optic atrophy

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

OPA1 analysis in an international series of probands with bilateral optic atrophy

OPA1 deficiency accelerates hippocampal synaptic remodelling and age-related deficits in learning and memory

OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy.

OPA1 mutation and late-onset cardiomyopathy: mitochondrial dysfunction and mtDNA instability

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

Opa1 Deficiency Leads to Diminished Mitochondrial Bioenergetics With Compensatory Increased Mitochondrial Motility

Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function

Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy

Opa1 is essential for retinal ganglion cell synaptic architecture and connectivity.

Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome

Perceptions and understanding of genetics and genetic eye disease and attitudes to genetic testing and gene therapy in a primary eye care setting.

Peripapillary microcirculation in Leber hereditary optic neuropathy

Photostimulation of mitochondria as a treatment for retinal neurodegeneration

Potential Therapeutic Benefit of NAD+ Supplementation for Glaucoma and Age-Related Macular Degeneration

Primary monophasic synovial sarcoma of the conjunctiva.

Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy

Red Light Treatment in an Axotomy Model of Neurodegeneration.

Retinal changes in a patient with acquired partial lipodystrophy (Laignel-Lavastine and Viard Syndrome)

Retinal ganglion cell dendritic degeneration in a mouse model of Alzheimer's disease.

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration

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

Specific deficits in visual electrophysiology in a mouse model of dominant optic atrophy

Symmetric arrangement of mitochondria:plasma membrane contacts between adjacent photoreceptor cells regulated by Opa1

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

The Relationship Between the Photopic Negative Response and Retinal Ganglion Cell Topography

The Sight Loss and Vision Priority Setting Partnership (SLV-PSP): overview and results of the research prioritisation survey process

The case of the disappearing bullet

The management of solitary trichoepithelioma versus basal cell carcinoma ⬇️

The pupil in dominant optic atrophy

Thymoxamine in the treatment of traumatic mydriasis.

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

Validating the RedMIT/GFP-LC3 Mouse Model by Studying Mitophagy in Autosomal Dominant Optic Atrophy Due to the OPA1Q285STOP Mutation

Visual and psychological morbidity among patients with autosomal dominant optic atrophy