Search Results - "Barbier, Mathieu"

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.

Authors: Barbier, Mathieu Bahlo, Melanie Pennisi, Alessandra et al.

Source: Annals of Neurology. Jul2022, Vol. 92 Issue 1, p122-137. 16p.

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

Authors: Barbier, Mathieu Camuzat, Agnès Hachimi, Khalid El et al.

Source: Brain: A Journal of Neurology; Sep2021, Vol. 144 Issue 9, p2798-2811, 14p

CD1 Gene Polymorphisms and Phenotypic Variability in X-Linked Adrenoleukodystrophy.

Authors: Barbier, Mathieu Sabbagh, Audrey Kasper, Edwige et al.

Source: PLoS ONE. Jan2012, Vol. 7 Issue 1, p1-7. 7p.

Platelets Alter Gene Expression Profile in Human Brain Endothelial Cells in an In Vitro Model of Cerebral Malaria.

Authors: Barbier, Mathieu Faille, Dorotheé atrice^Loriod, Bé et al.

Source: PLoS ONE. 2011, Vol. 6 Issue 5, p1-14. 14p.

Robust trajectory forecasting in autonomous systems using mixtures of Student's T-distributions with T-DistNet.

Authors: Lafage, Adrien Franchi, Gianni Barbier, Mathieu et al.

Source: Pattern Recognition; Sep2025, Vol. 165, pN.PAG-N.PAG, 1p

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.

Authors: Huin, Vincent Barbier, Mathieu Bottani, Armand et al.

Source: Brain: A Journal of Neurology; Jan2020, Vol. 143 Issue 1, p303-319, 17p

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.

Authors: Huin, Vincent Barbier, Mathieu Bottani, Armand et al.

Source: Brain: A Journal of Neurology; Jan2019, Vol. 142 Issue 1, p303-319, 17p

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.

Authors: Parodi, Livia Fenu, Silvia Barbier, Mathieu et al.

Source: Brain: A Journal of Neurology; Dec2018, Vol. 141 Issue 12, p3331-3342, 12p

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X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.

Authors: Engelen, Marc Barbier, Mathieu Dijkstra, Inge M. E. et al.

Source: Brain: A Journal of Neurology; Mar2014, Vol. 137 Issue 3, p693-706, 14p

Family-based association of a low producing lymphotoxin-α allele with reduced Plasmodium falciparum parasitemia

Authors: Barbier, Mathieu Delahaye, Nicolas F. Fumoux, Francis et al.

Source: Microbes & Infection. May2008, Vol. 10 Issue 6, p673-679. 7p.

Association analyses of NCR3 polymorphisms with P. falciparum mild malaria

Authors: Delahaye, Nicolas F. Barbier, Mathieu Fumoux, Francis et al.

Source: Microbes & Infection. Feb2007, Vol. 9 Issue 2, p160-166. 7p.

Reply: Two heterozygous progranulin mutations in progressive supranuclear palsy.

Authors: Huin, Vincent Barbier, Mathieu Durr, Alexandra et al.

Source: Brain: A Journal of Neurology; Mar2021, Vol. 144 Issue 3, pe28-e28, 1p

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

Authors: Huin, Vincent Barbier, Mathieu Durr, Alexandra et al.

Source: Brain: A Journal of Neurology; Feb2021, Vol. 144 Issue 2, pe23-e23, 1p

Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers.

Authors: Fournier, Clémence Barbier, Mathieu Camuzat, Agnès et al.

Source: Neurobiology of Aging. Feb2019, Vol. 74, p234.e1-234.e8. 1p.

Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy.

Authors: Engelen, Marc Barbier, Mathieu Dijkstra, Inge M. E. et al.

Source: Brain: A Journal of Neurology; Feb2015, Vol. 138 Issue 2, pe326-e326, 1p

CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids.

Authors: van Engen, Catherine E. Ofman, Rob Dijkstra, Inge M.E. et al.

Source: BBA: Molecular Basis of Disease. Oct2016, Vol. 1862 Issue 10, p1861-1870. 10p.

Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias.

Authors: Fournier, Clémence Anquetil, Vincent Camuzat, Agnès et al.

Source: Acta Neuropathologica Communications. 5/30/2018, Vol. 6 Issue 1, pN.PAG-N.PAG. 1p.

Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience.

Authors: Sellami, Leila Rucheton, Benoît Ben Younes, Imen et al.

Source: Neurobiology of Aging. Jul2020, Vol. 91, p167.e1-167.e9. 1p.

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.

Authors: Barbier M Gareau T Camuzat A et al.

Corporate Authors: Barbier M Gareau T Camuzat A et al.

Source: Brain communications [Brain Commun] 2025 Jun 04; Vol. 7 (3), pp. fcaf220. Date of Electronic Publication: 2025 Jun 04 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE