Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Mathieu Barbier

3PUBLICATIONS
25CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene mapping
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (3)

Sort by Publication Date:
|Jun 30, 2025
Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles of <i>HTT</i> associated with an early disease onset in <i>C9orf72</i> carriers.

Mathieu Barbier, Thomas Gareau, Agnès Camuzat

|Apr 12, 2022
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.

Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi

|Oct 23, 2021
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.

Mathieu Barbier, Agnès Camuzat, Khalid El Hachimi

Pageof 1

Frequent Collaborators

2 joint publications

Alexandra Durr

1 joint publications

Raquel Sánchez-Valle

1 joint publications

Mario Masellis

1 joint publications

Melanie Bahlo

1 joint publications

Alessandra Pennisi

1 joint publications

Maxime Jacoupy

1 joint publications

Rick M Tankard

1 joint publications

Patricia Lino-Coulon

1 joint publications

Claire Colace

1 joint publications

Haloom Rafehi

Frequent Collaborators

2 joint publications

Alexandra Durr

1 joint publications

Raquel Sánchez-Valle

1 joint publications

Mario Masellis

1 joint publications

Melanie Bahlo

Top Related Videos

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
08:53

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

Published on : May 16, 2017

8.8K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on : Apr 04, 2018

34.1K
Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
08:59

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on : Jul 16, 2021

2.8K
See more related videos

Top Related Videos

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
08:53

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

Published on : May 16, 2017

8.8K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on : Apr 04, 2018

34.1K
Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
08:59

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on : Jul 16, 2021

2.8K
See more related videos