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Mathieu Barbier

Showing results (11-20 of 21) with videos related to

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Brain : a Journal of Neurology|February 1, 2014
X-linked adrenoleukodystrophy in women: a cross-sectional cohort studyMarc Engelen, Mathieu Barbier, Inge M E Dijkstra, et al.
Brain : a Journal of Neurology|December 20, 2019
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanismsVincent Huin, Mathieu Barbier, Armand Bottani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2020
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairmentThomas Roux, Mathieu Barbier, Mélanie Papin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2022
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4Livia Parodi, Mathieu Barbier, Maxime Jacoupy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 24, 2022
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?Mathieu Barbier, Claire-Sophie Davoine, Emilien Petit, et al.
American Journal of Human Genetics|December 1, 2014
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissectionsMathieu Barbier, Marie-Sylvie Gross, Mélodie Aubart, et al.
Frontiers in Cellular Neuroscience|May 4, 2023
C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in miceMaria-Belen Lopez-Herdoiza, Stephanie Bauché, Baptiste Wilmet, et al.
Brain Communications|June 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> carriersMathieu Barbier, Thomas Gareau, Agnès Camuzat, et al.
Neurobiology of Aging|March 16, 2020
Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experienceLeila Sellami, Benoît Rucheton, Imen Ben Younes, et al.
Annals of Neurology|April 12, 2022
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Brain : a Journal of Neurology|February 1, 2014
X-linked adrenoleukodystrophy in women: a cross-sectional cohort studyMarc Engelen, Mathieu Barbier, Inge M E Dijkstra, et al.
Brain : a Journal of Neurology|December 20, 2019
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanismsVincent Huin, Mathieu Barbier, Armand Bottani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2020
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairmentThomas Roux, Mathieu Barbier, Mélanie Papin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2022
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4Livia Parodi, Mathieu Barbier, Maxime Jacoupy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 24, 2022
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?Mathieu Barbier, Claire-Sophie Davoine, Emilien Petit, et al.
American Journal of Human Genetics|December 1, 2014
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissectionsMathieu Barbier, Marie-Sylvie Gross, Mélodie Aubart, et al.
Frontiers in Cellular Neuroscience|May 4, 2023
C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in miceMaria-Belen Lopez-Herdoiza, Stephanie Bauché, Baptiste Wilmet, et al.
Brain Communications|June 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> carriersMathieu Barbier, Thomas Gareau, Agnès Camuzat, et al.
Neurobiology of Aging|March 16, 2020
Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experienceLeila Sellami, Benoît Rucheton, Imen Ben Younes, et al.
Annals of Neurology|April 12, 2022
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, et al.
Pageof 3