Mathieu Barbier

Paris, France

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 23 publications

Toward the clinical application of long-read sequencing in repeat-expansion disorders.

Toward the clinical application of long-read sequencing in repeat-expansion disorders.

Journal: Nature genetics
Published: September 03, 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

C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice.

C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice.

Journal: Frontiers in cellular neuroscience
Published: February 01, 2023

Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 29, 2022

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

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.

Journal: Annals of neurology
Published: November 07, 2021

Reply: Two heterozygous progranulin mutations in progressive supranuclear palsy.

Reply: Two heterozygous progranulin mutations in progressive supranuclear palsy.

Journal: Brain : a journal of neurology
Published: January 11, 2021

Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.

Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 23, 2020

Reply: Early-onset phenotype of bi-allelic GRN mutations.

Reply: Early-onset phenotype of bi-allelic GRN mutations.

Journal: Brain : a journal of neurology
Published: December 22, 2020

SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.

SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.

Journal: Brain : a journal of neurology
Published: December 21, 2020

Response to Park et al.

Response to Park et al.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 02, 2020

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 20, 2020
Showing 1-12 of 23

Last Updated: 09/26/2026