Anne Polge

Nimes, France

Last Updated: 09/26/2026

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Found 13 publications

Most SOD1 mutations are pathogenic, and their identification can lead to early access to treatment.

Most SOD1 mutations are pathogenic, and their identification can lead to early access to treatment.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: April 03, 2024

Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS.

Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: April 28, 2023

Discovering the ANK2-related autism phenotype.

Discovering the ANK2-related autism phenotype.

Journal: Clinical genetics

Published: February 08, 2023

Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case.

Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: October 20, 2021

Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay.

Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay.

Journal: Scientific reports

Published: July 20, 2020

Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort.

Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort.

Journal: Frontiers in neuroscience

Published: February 12, 2020

Regulation of Brain Cholesterol: What Role Do Liver X Receptors Play in Neurodegenerative Diseases?

Regulation of Brain Cholesterol: What Role Do Liver X Receptors Play in Neurodegenerative Diseases?

Journal: International journal of molecular sciences

Published: July 23, 2019

Slowly progressive motor neuron disease with multi-system involvement related to p.E121G SOD1 mutation.

Slowly progressive motor neuron disease with multi-system involvement related to p.E121G SOD1 mutation.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: November 29, 2016

Liver X Receptor Genes Variants Modulate ALS Phenotype.

Liver X Receptor Genes Variants Modulate ALS Phenotype.

Journal: Molecular neurobiology

Published: September 30, 2016

Liver X receptors: from cholesterol regulation to neuroprotection-a new barrier against neurodegeneration in amyotrophic lateral sclerosis?

Liver X receptors: from cholesterol regulation to neuroprotection-a new barrier against neurodegeneration in amyotrophic lateral sclerosis?

Journal: Cellular and molecular life sciences : CMLS

Published: August 02, 2016

Standard dosing of amikacin and gentamicin in critically ill patients results in variable and subtherapeutic concentrations.

Standard dosing of amikacin and gentamicin in critically ill patients results in variable and subtherapeutic concentrations.

Journal: International journal of antimicrobial agents

Published: November 27, 2014

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Journal: Journal of medical genetics

Published: August 30, 2014

Showing 1-12 of 13

Last Updated: 09/26/2026