Lista de obras -

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders.

artículo científico publicado en 2018

A Plasma Metabolomic Signature of the Exfoliation Syndrome Involves Amino Acids, Acylcarnitines, and Polyamines.

artículo científico publicado en 2018

Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect

artículo científico publicado en 2009

Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease.

artículo científico publicado en 2009

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

artículo científico publicado en 2014

Are zona pellucida genes involved in recurrent oocyte lysis observed during in vitro fertilization?

artículo científico publicado en 2013

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

artículo científico publicado en 2015

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

artículo científico publicado en 2017

Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family

artículo científico publicado en 2004

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

artículo científico publicado en 2006

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

scientific journal article

Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

scholarly article by Céline Bris et al published 2018 in Frontiers in Genetics

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features

artículo científico publicado en 2014

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

artículo científico publicado en 2016

Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy.

artículo científico publicado en 2018

Dominant optic atrophy.

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity.

artículo científico publicado en 2009

First characterization of LHON pedigrees in North Africa

artículo científico publicado en 2020

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

artículo científico publicado en 2003

Genetically determined optic neuropathies

scientific article published on February 2010

Hereditary optic neuropathies share a common mitochondrial coupling defect.

artículo científico publicado en 2008

Heterozygous OPA1 mutations in Behr syndrome

artículo científico publicado en 2011

Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.

artículo científico publicado en 2011

Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.

artículo científico publicado en 2014

Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS.

artículo científico publicado en 2012

Mitochondrial dynamics and disease, OPA1

artículo científico publicado en 2006

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

artículo científico publicado en 2010

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

artículo científico publicado en 2007

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

artículo científico publicado en 2017

Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases

artículo científico publicado en 2020

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features

artículo científico publicado en 2017

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

artículo científico publicado en 2020

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

artículo científico publicado en 2014

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

artículo científico publicado en 2017

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction

artículo científico publicado en 2015

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion

artículo científico publicado en 2018

Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia

artículo científico publicado en 2017

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

artículo científico publicado en 2005

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

artículo científico publicado en 2008

OPA1-associated disorders: phenotypes and pathophysiology.

artículo científico publicado en 2009

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

scientific article published on 23 August 2015

OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background

artículo científico publicado en 2009

Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy

scientific article published on May 2010

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

artículo científico publicado en 2013

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

artículo científico publicado en 2012

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

scientific journal article

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Reply: The expanding neurological phenotype of DNM1L-related disorders

artículo científico publicado en 2018

Reversible optic neuropathy with OPA1 exon 5b mutation

scientific article published on 01 May 2008

Sensorineural hearing loss in OPA1-linked disorders.

artículo científico publicado en 2013

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

artículo científico publicado en 2017

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress

artículo científico publicado en 2016

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

artículo científico publicado en 2010

eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data

artículo científico publicado en 2018

eOPA1: an online database for OPA1 mutations

artículo científico publicado en 2005

Lista de obras de

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders.

A Plasma Metabolomic Signature of the Exfoliation Syndrome Involves Amino Acids, Acylcarnitines, and Polyamines.

Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect

Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease.

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

Are zona pellucida genes involved in recurrent oocyte lysis observed during in vitro fertilization?

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy.

Dominant optic atrophy.

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

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

Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity.

First characterization of LHON pedigrees in North Africa

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

Genetically determined optic neuropathies

Hereditary optic neuropathies share a common mitochondrial coupling defect.

Heterozygous OPA1 mutations in Behr syndrome

Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.

Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.

Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS.

Mitochondrial dynamics and disease, OPA1

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

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

Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features

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

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion

Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

OPA1-associated disorders: phenotypes and pathophysiology.

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background

Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

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.

Reply: The expanding neurological phenotype of DNM1L-related disorders

Reversible optic neuropathy with OPA1 exon 5b mutation

Sensorineural hearing loss in OPA1-linked disorders.

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress

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

eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data

eOPA1: an online database for OPA1 mutations