List of works - Valérie Serre

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

scientific article

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

scientific article published on 01 May 2017

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

scientific article

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia

scientific article

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

scientific article published on 9 January 2013

Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia

scientific article published on 13 September 2013

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

scientific article

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

scientific article published on 28 December 2016

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

scientific article

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

scientific article

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

scientific article

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

scientific article

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

scientific article

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

scientific article

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

scientific journal article

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

scientific article

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

scientific article

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

scientific article published in May 2018

Quantitative proteomics in Friedreich's ataxia B-lymphocytes: A valuable approach to decipher the biochemical events responsible for pathogenesis

scientific article published on 9 January 2018

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

scientific article published on 12 February 2015

Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

scientific article published on 27 October 2014

Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

scientific article published on 8 January 2015

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China

scientific article published on 30 December 2015

Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

scientific article published on 7 May 2015

Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

scientific article published on 26 September 2014

Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

scientific article published on 11 August 2014

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients

scientific article published on 24 July 2014

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

scientific article published in May 2009

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane

scientific article published on 13 March 2013

The adaptive metabolic response involves specific protein glutathionylation during the filamentation process in the pathogen Candida albicans

scientific article published on 12 April 2016

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia

scientific article published on 31 October 2013

List of works by Valérie Serre

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

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

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

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

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

Quantitative proteomics in Friedreich's ataxia B-lymphocytes: A valuable approach to decipher the biochemical events responsible for pathogenesis

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China

Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane

The adaptive metabolic response involves specific protein glutathionylation during the filamentation process in the pathogen Candida albicans

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia