Valerie Serre

Nice, France

Last Updated: 09/26/2026

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Found 30 publications

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

Journal: American journal of human genetics

Published: February 05, 2020

A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs.

A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs.

Journal: Molecular genetics and metabolism reports

Published: September 09, 2019

NDUFS6 related Leigh syndrome: a case report and review of the literature.

NDUFS6 related Leigh syndrome: a case report and review of the literature.

Journal: Journal of human genetics

Published: October 14, 2018

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

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

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: September 27, 2017

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.

Journal: American journal of human genetics

Published: August 25, 2017

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

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

Journal: Human molecular genetics

Published: May 06, 2017

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

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

Journal: American journal of medical genetics. Part A

Published: April 25, 2017

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

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

Journal: Human molecular genetics

Published: January 03, 2017

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

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

Journal: Journal of medical genetics

Published: August 04, 2016

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

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

Journal: American journal of human genetics

Published: June 21, 2016

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

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

Journal: Brain : a journal of neurology

Published: January 01, 2016

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

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

Journal: Biochimica et biophysica acta

Published: November 18, 2015

Showing 1-12 of 30

Last Updated: 09/26/2026