List of works - Marc Ferre

A Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies

scientific article published on 27 February 2020

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

scientific article published in January 2018

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.

scientific article published on 26 December 2011

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

scientific article

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

scientific article

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

scientific article published on 4 April 2017

Carotid artery dissection in an adult with the Simpson–Golabi–Behmel syndrome

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

scientific article (publication date: October 2014)

Hereditary optic atrophies

scientific article published on 5 November 2010

Hereditary optic neuropathies share a common mitochondrial coupling defect.

scientific article published in June 2008

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.

scientific article

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

scientific article

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

scientific article

Is ABCC6 a genuine mitochondrial protein?

scientific article published on 23 October 2013

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

scientific article

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

scientific article published on 17 December 2008

Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease

article by Dominique Loiseau et al published April 2007 in Annals of Neurology

Mitochondrial diseases preferentially involve proteins with prokaryote homologues

scientific article published in December 2004

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

scientific article published in July 2009

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.

scientific article

Neurotoxicity of insecticides

scientific article

OPA1-associated disorders: phenotypes and pathophysiology.

scientific article published on 21 April 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

scientific article

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

scientific article published on 10 September 2019

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

scientific article published on 11 July 2013

Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cells

scientific article

Reversible optic neuropathy with OPA1 exon 5b mutation

scientific article published on 01 May 2008

Sensorineural hearing loss in OPA1-linked disorders.

scientific article

Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1

scientific article published on 01 January 2005

Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function.

scientific article published on 17 March 2012

Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum

scientific article published on 26 February 2018

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

scientific article published in February 2017

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

scientific article published on 15 September 2016

eOPA1: an online database for OPA1 mutations

scientific article

List of works by Marc Ferre

A Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies

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

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.

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

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

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

Carotid artery dissection in an adult with the Simpson–Golabi–Behmel syndrome

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

Hereditary optic atrophies

Hereditary optic neuropathies share a common mitochondrial coupling defect.

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.

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.

Is ABCC6 a genuine mitochondrial protein?

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease

Mitochondrial diseases preferentially involve proteins with prokaryote homologues

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.

Neurotoxicity of insecticides

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

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cells

Reversible optic neuropathy with OPA1 exon 5b mutation

Sensorineural hearing loss in OPA1-linked disorders.

Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1

Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function.

Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum

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

eOPA1: an online database for OPA1 mutations