| TIA1 mutations in amyotrophic lateral sclerosis and frontotemporal dementia promote phase separation and alter stress granule dynamics IR Mackenzie, AM Nicholson, M Sarkar, J Messing, MD Purice, C Pottier, ... Neuron 95 (4), 808-816. e9, 2017 | 561 | 2017 |
| Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease C Pottier, KF Bieniek, NC Finch, M van de Vorst, M Baker, R Perkersen, ... Acta neuropathologica 130, 77-92, 2015 | 331 | 2015 |
| High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease C Pottier, D Hannequin, S Coutant, A Rovelet-Lecrux, D Wallon, ... Molecular psychiatry 17 (9), 875-879, 2012 | 296 | 2012 |
| Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification G Nicolas, C Pottier, D Maltête, S Coutant, A Rovelet-Lecrux, S Legallic, ... Neurology 80 (2), 181-187, 2013 | 292 | 2013 |
| CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia KL Williams, S Topp, S Yang, B Smith, JA Fifita, ST Warraich, KY Zhang, ... Nature communications 7 (1), 11253, 2016 | 221 | 2016 |
| Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification G Nicolas, C Pottier, C Charbonnier, L Guyant-Maréchal, I Le Ber, ... Brain 136 (11), 3395-3407, 2013 | 220 | 2013 |
| TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease C Pottier, D Wallon, S Rousseau, A Rovelet-Lecrux, AC Richard, ... Journal of Alzheimer's Disease 35 (1), 45-49, 2013 | 179 | 2013 |
| Genetics of FTLD: overview and what else we can expect from genetic studies C Pottier, TA Ravenscroft, M Sanchez‐Contreras, R Rademakers Journal of neurochemistry 138, 32-53, 2016 | 156 | 2016 |
| Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study C Pottier, X Zhou, RB Perkerson, M Baker, GD Jenkins, DJ Serie, ... The Lancet Neurology 17 (6), 548-558, 2018 | 115 | 2018 |
| De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease A Rovelet-Lecrux, C Charbonnier, D Wallon, G Nicolas, MNJ Seaman, ... Molecular psychiatry 20 (9), 1046-1056, 2015 | 99 | 2015 |
| Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in … C Pottier, Y Ren, RB Perkerson, M Baker, GD Jenkins, M van Blitterswijk, ... Acta neuropathologica 137, 879-899, 2019 | 96 | 2019 |
| TYROBP genetic variants in early-onset Alzheimer's disease C Pottier, TA Ravenscroft, PH Brown, NCA Finch, M Baker, M Parsons, ... Neurobiology of aging 48, 222. e9-222. e15, 2016 | 90 | 2016 |
| Prosaposin is a regulator of progranulin levels and oligomerization AM Nicholson, NCA Finch, M Almeida, RB Perkerson, M Van Blitterswijk, ... Nature communications 7 (1), 11992, 2016 | 79 | 2016 |
| Alzheimer disease: modeling an Aβ-centered biological network D Campion, C Pottier, G Nicolas, K Le Guennec, A Rovelet-Lecrux Molecular psychiatry 21 (7), 861-871, 2016 | 72 | 2016 |
| PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy G Nicolas, A Rovelet-Lecrux, C Pottier, O Martinaud, D Wallon, L Vernier, ... Journal of Molecular Neuroscience 53, 171-175, 2014 | 59 | 2014 |
| A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia G Nicolas, A Jacquin, C Thauvin-Robinet, A Rovelet-Lecrux, O Rouaud, ... European Journal of Human Genetics 22 (10), 1236-1238, 2014 | 55 | 2014 |
| Clinical and neuropathological features of ALS/FTD with TIA1 mutations V Hirsch-Reinshagen, C Pottier, AM Nicholson, M Baker, GYR Hsiung, ... Acta neuropathologica communications 5, 1-13, 2017 | 48 | 2017 |
| Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers DW Dickson, MC Baker, JL Jackson, M DeJesus-Hernandez, NCA Finch, ... Acta neuropathologica communications 7, 1-21, 2019 | 45 | 2019 |
| Mutation in the 3’untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy G Nicolas, D Wallon, C Goupil, AC Richard, C Pottier, V Dorval, ... European Journal of Human Genetics 24 (1), 92-98, 2016 | 37 | 2016 |
| Amyloid-β protein precursor gene expression in Alzheimer's disease and other conditions C Pottier, D Wallon, AR Lecrux, D Maltete, S Bombois, S Jurici, ... Journal of Alzheimer's Disease 28 (3), 561-566, 2012 | 30 | 2012 |
