| X-linked adrenoleukodystrophy in women: a cross-sectional cohort study M Engelen, M Barbier, IME Dijkstra, R Schür, RMA de Bie, C Verhamme, ... Brain 137 (3), 693-706, 2014 | 234 | 2014 |
| MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections M Barbier, MS Gross, M Aubart, N Hanna, K Kessler, DC Guo, L Tosolini, ... The American Journal of Human Genetics 95 (6), 736-743, 2014 | 146 | 2014 |
| Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex L Parodi, S Fenu, M Barbier, G Banneau, C Duyckaerts, ... Brain 141 (12), 3331-3342, 2018 | 92 | 2018 |
| Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms V Huin, M Barbier, A Bottani, JA Lobrinus, F Clot, F Lamari, L Chat, ... Brain 143 (1), 303-319, 2020 | 71 | 2020 |
| Gene expression analysis reveals early changes in several molecular pathways in cerebral malaria-susceptible mice versus cerebral malaria-resistant mice NF Delahaye, N Coltel, D Puthier, M Barbier, P Benech, F Joly, FA Iraqi, ... BMC genomics 8, 1-16, 2007 | 71 | 2007 |
| Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers C Fournier, M Barbier, A Camuzat, V Anquetil, S Lattante, F Clot, ... Neurobiology of aging 74, 234. e1-234. e8, 2019 | 56 | 2019 |
| Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment T Roux, M Barbier, M Papin, CS Davoine, S Sayah, G Coarelli, P Charles, ... Genetics in Medicine 22 (11), 1851-1862, 2020 | 47 | 2020 |
| Platelets Alter Gene Expression Profile in Human Brain Endothelial Cells in an In Vitro Model of Cerebral Malaria M Barbier, D Faille, B Loriod, J Textoris, C Camus, D Puthier, L Flori, ... PLoS One 6 (5), e19651, 2011 | 45 | 2011 |
| Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience L Sellami, B Rucheton, IB Younes, A Camuzat, D Saracino, D Rinaldi, ... Neurobiology of Aging 91, 167. e1-167. e9, 2020 | 42 | 2020 |
| Association analyses of NCR3 polymorphisms with P. falciparum mild malaria NF Delahaye, M Barbier, F Fumoux, P Rihet Microbes and infection 9 (2), 160-166, 2007 | 31 | 2007 |
| Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias C Fournier, V Anquetil, A Camuzat, S Stirati-Buron, V Sazdovitch, ... Acta neuropathologica communications 6, 1-4, 2018 | 28 | 2018 |
| Intermediate repeat expansions of TBP and STUB1: genetic modifier or pure digenic inheritance in spinocerebellar ataxias? M Barbier, CS Davoine, E Petit, M Porché, L Guillot-Noel, S Sayah, ... Genetics in Medicine 25 (2), 100327, 2023 | 24 | 2023 |
| CD1 Gene Polymorphisms and Phenotypic Variability in X-Linked Adrenoleukodystrophy M Barbier, A Sabbagh, E Kasper, M Asheuer, O Ahouansou, I Pribill, ... PLoS One 7 (1), e29872, 2012 | 21 | 2012 |
| Family-based association of a low producing lymphotoxin-α allele with reduced Plasmodium falciparum parasitemia M Barbier, NF Delahaye, F Fumoux, P Rihet Microbes and infection 10 (6), 673-679, 2008 | 21 | 2008 |
| CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids CE van Engen, R Ofman, IME Dijkstra, TJ van Goethem, E Verheij, J Varin, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1862 (10 …, 2016 | 18 | 2016 |
| IL12B polymorphisms are linked but not associated with Plasmodium falciparum parasitemia: a familial study in Burkina Faso M Barbier, A Atkinson, F Fumoux, P Rihet Genes & Immunity 9 (5), 405-411, 2008 | 18 | 2008 |
| Evidence for epistasis between hemoglobin C and immune genes in human P. falciparum malaria: a family study in Burkina Faso A Atkinson, M Barbier, S Afridi, F Fumoux, P Rihet Genes & Immunity 12 (6), 481-489, 2011 | 16 | 2011 |
| Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25 M Barbier, M Bahlo, A Pennisi, M Jacoupy, RM Tankard, C Ewenczyk, ... Annals of neurology 92 (1), 122-137, 2022 | 15 | 2022 |
| Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics M Barbier, A Camuzat, M Houot, F Clot, P Caroppo, C Fournier, D Rinaldi, ... Neurology: Genetics 3 (6), e203, 2017 | 14 | 2017 |
| SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration M Barbier, A Camuzat, K El Hachimi, J Guegan, D Rinaldi, S Lattante, ... Brain 144 (9), 2798-2811, 2021 | 11 | 2021 |
