Lista de obras -

A gene recently inactivated in human defines a new olfactory receptor family in mammals ⬇️

artículo científico publicado el 1 de septiembre de 1998

ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.

artículo científico publicado en 2018

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

artículo científico publicado en 2020

Dominant optic atrophy.

artículo científico publicado en 2012

ER-mitochondria cross-talk is regulated by the Ca sensor NCS1 and is impaired in Wolfram syndrome

scientific article published on 23 October 2018

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis

artículo científico publicado en 2007

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

artículo científico publicado en 2003

From yeast to neurodegenerative diseases: ten years of exploration of mitochondrial dynamic disorders

artículo científico publicado en 2010

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

scientific article published on 27 July 2019

Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.

artículo científico publicado en 2014

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

artículo científico publicado en 2016

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

artículo científico publicado en 2017

Loss of function of Ywhah in mice induces deafness and cochlear outer hair cell's degeneration

artículo científico publicado en 2016

Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration.

artículo científico publicado en 2016

Mitochondrial Complex I activity signals antioxidant response through ERK5.

artículo científico publicado en 2018

Mitochondrial dynamics and disease, OPA1

artículo científico publicado en 2006

Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

artículo científico publicado en 2017

OPA1 functions in mitochondria and dysfunctions in optic nerve.

artículo científico publicado en 2009

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model.

artículo científico publicado en 2018

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

artículo científico publicado en 2017

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

scientific journal article

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

artículo científico publicado en 2013

Reversible optic neuropathy with OPA1 exon 5b mutation

scientific article published on 01 May 2008

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

artículo científico publicado en 2018

The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.

artículo científico publicado en 2012

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.

artículo científico publicado en 2016

Wolfram syndrome: MAMs' connection?

artículo científico publicado en 2018

Lista de obras de

A gene recently inactivated in human defines a new olfactory receptor family in mammals ⬇️

ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

Dominant optic atrophy.

ER-mitochondria cross-talk is regulated by the Ca sensor NCS1 and is impaired in Wolfram syndrome

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

From yeast to neurodegenerative diseases: ten years of exploration of mitochondrial dynamic disorders

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

Loss of function of Ywhah in mice induces deafness and cochlear outer hair cell's degeneration

Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration.

Mitochondrial Complex I activity signals antioxidant response through ERK5.

Mitochondrial dynamics and disease, OPA1

Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

OPA1 functions in mitochondria and dysfunctions in optic nerve.

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model.

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

Reversible optic neuropathy with OPA1 exon 5b mutation

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.

Wolfram syndrome: MAMs' connection?