Lista de obras - Dominique Chrétien - Dominio Público Uruguay

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency

artículo científico publicado en 2005

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome

artículo científico publicado en 2007

Antenatal manifestations of mitochondrial respiratory chain deficiency

artículo científico publicado en 2003

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

artículo científico publicado en 2008

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

artículo científico publicado en 2011

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome

artículo científico publicado en 2003

Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis

artículo científico publicado en 2003

Mitochondrial cytochrome c oxidase deficiency

artículo científico publicado en 2016

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

artículo científico publicado en 2010

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

artículo científico publicado en 2003

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

artículo científico publicado en 2007

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

artículo científico publicado en 2013

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

Nuclear outsourcing of RNA interference components to human mitochondria

artículo científico publicado en 2011

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

artículo científico publicado en 2007

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy

artículo científico publicado en 2009

Lista de obras de Dominique Chrétien

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome

Antenatal manifestations of mitochondrial respiratory chain deficiency

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome

Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis

Mitochondrial cytochrome c oxidase deficiency

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

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

Nuclear outsourcing of RNA interference components to human mitochondria

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy