Publications by authors named "Mathieu Barbier"

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Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles of associated with an early disease onset in carriers.
Mathieu Barbier, Thomas Gareau, Agnès Camuzat, Marine Guillaud-Bataille, Susana Boluda

Brain Commun· June 2025

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C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice.
Maria-Belen Lopez-Herdoiza, Stephanie Bauché, Baptiste Wilmet, Caroline Le Duigou, Delphine Roussel, Mathieu Barbier

Front Cell Neurosci· April 2023

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Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
Mathieu Barbier, Claire-Sophie Davoine, Emilien Petit, Maximilien Porché, Léna Guillot-Noel

Genet Med· February 2023

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The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.
Livia Parodi, Mathieu Barbier, Maxime Jacoupy, Claire Pujol, François-Xavier Lejeune

Genet Med· November 2022

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Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, Maxime Jacoupy, Rick M Tankard

Ann Neurol· July 2022

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Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah

Genet Med· October 2021

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SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.
Mathieu Barbier, Agnès Camuzat, Khalid El Hachimi, Justine Guegan, Daisy Rinaldi

Brain· October 2021

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Response to Park et al.
Mathieu Barbier, Claire Sophie Davoine, Alexis Brice, Alexandra Durr

Genet Med· June 2021

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Reply: Two heterozygous progranulin mutations in progressive supranuclear palsy.
Vincent Huin, Mathieu Barbier, Alexandra Durr, Isabelle Le Ber

Brain· April 2021

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Reply: Early-onset phenotype of bi-allelic GRN mutations.
Vincent Huin, Mathieu Barbier, Alexandra Durr, Isabelle Le Ber

Brain· March 2021

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Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah

Genet Med· November 2020

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Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience.
Leila Sellami, Benoît Rucheton, Imen Ben Younes, Agnès Camuzat, Dario Saracino, Mathieu Barbier

Neurobiol Aging· July 2020

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Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Vincent Huin, Mathieu Barbier, Armand Bottani, Johannes Alexander Lobrinus, Fabienne Clot

Brain· January 2020

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Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers.
Clémence Fournier, Mathieu Barbier, Agnès Camuzat, Vincent Anquetil, Serena Lattante

Neurobiol Aging· February 2019

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Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
Livia Parodi, Silvia Fenu, Mathieu Barbier, Guillaume Banneau, Charles Duyckaerts

Brain· December 2018

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Monogenic inheritance in early-onset dementia: illustration in Alzheimer's disease and frontotemporal lobar dementia.
Mathieu Barbier, David Wallon, Isabelle Le Ber

Geriatr Psychol Neuropsychiatr Vieil· September 2018

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Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias.
Clémence Fournier, Vincent Anquetil, Agnès Camuzat, Sandrine Stirati-Buron, Véronique Sazdovitch, Mathieu Barbier

Acta Neuropathol Commun· May 2018

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Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics.
Mathieu Barbier, Agnès Camuzat, Marion Houot, Fabienne Clot, Paola Caroppo

Neurol Genet· December 2017

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CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids.
Catherine E van Engen, Rob Ofman, Inge M E Dijkstra, Tessa Jacobs van Goethem, Eveline Verheij, Mathieu Barbier

Biochim Biophys Acta· October 2016

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Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy.
Marc Engelen, Mathieu Barbier, Inge M E Dijkstra, Remmelt Schür, Rob M de Bie

Brain· February 2015

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MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.
Mathieu Barbier, Marie-Sylvie Gross, Mélodie Aubart, Nadine Hanna, Ketty Kessler

Am J Hum Genet· December 2014

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X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
Marc Engelen, Mathieu Barbier, Inge M E Dijkstra, Remmelt Schür, Rob M A de Bie

Brain· March 2014

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CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy.
Mathieu Barbier, Audrey Sabbagh, Edwige Kasper, Muriel Asheuer, Ornella Ahouansou

PLoS One· May 2012

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Platelets alter gene expression profile in human brain endothelial cells in an in vitro model of cerebral malaria.
Mathieu Barbier, Dorothée Faille, Béatrice Loriod, Julien Textoris, Claire Camus

PLoS One· October 2011

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Family-based association of a low producing lymphotoxin-alpha allele with reduced Plasmodium falciparum parasitemia.
Mathieu Barbier, Nicolas F Delahaye, Francis Fumoux, Pascal Rihet

Microbes Infect· May 2008

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