Marine Bataille-Guillaud

Villejuif, 94805, France

Last Updated: 09/26/2026

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Found 41 publications

Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.

Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.

Journal: European journal of neurology

Published: April 08, 2025

Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.

Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.

Journal: Neurogenetics

Published: March 12, 2025

Mild cognitive dysfunction in hereditary spastic paraplegia 4 disease related to fluorodesoxyglucose cerebral positron emission tomography.

Mild cognitive dysfunction in hereditary spastic paraplegia 4 disease related to fluorodesoxyglucose cerebral positron emission tomography.

Journal: Brain communications

Published: January 09, 2025

Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles of HTT associated with an early disease onset in C9orf72 carriers.

Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles of HTT associated with an early disease onset in C9orf72 carriers.

Journal: Brain communications

Published: October 31, 2024

Hereditary spastic paraplegias: When to expect bladder dysfunction a genetic and urodynamic study.

Hereditary spastic paraplegias: When to expect bladder dysfunction a genetic and urodynamic study.

Journal: European journal of neurology

Published: October 13, 2024

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Journal: European journal of neurology

Published: August 26, 2024

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.

Journal: Human genetics

Published: July 17, 2024

Combined Tumor-Based BRCA1/2 and TP53 Mutation Testing in Ovarian Cancer.

Combined Tumor-Based BRCA1/2 and TP53 Mutation Testing in Ovarian Cancer.

Journal: International journal of molecular sciences

Published: March 13, 2023

The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.

The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 06, 2022

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.

Journal: Human mutation

Published: January 04, 2022

Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations.

Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations.

Journal: Genes

Published: October 29, 2021

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

Journal: American journal of human genetics

Published: June 15, 2021

Showing 1-12 of 41

Last Updated: 09/26/2026