Lista de obras - Marc Ferre - Dominio Público Uruguay

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

artículo científico publicado en 2017

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

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

artículo científico publicado en 2014

Hereditary optic atrophies

artículo científico publicado en 2010

Hereditary optic neuropathies share a common mitochondrial coupling defect.

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

Is ABCC6 a genuine mitochondrial protein?

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

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

artículo científico publicado en 2009

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.

artículo científico publicado en 2016

Neurotoxicity of insecticides

artículo científico publicado en 2017

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

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

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

artículo científico publicado en 2005

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

artículo científico publicado en 2012

Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum

artículo científico publicado en 2018

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

eOPA1: an online database for OPA1 mutations

artículo científico publicado en 2005

Lista de obras de 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