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Cyril Pottier
Cyril Pottier
Mayo Clinic Jacsonville, Department of Neuroscience
在 mayo.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
5852017
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
3362015
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
3012012
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
3002013
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
2292016
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
2292013
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
1822013
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
1652016
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
1242018
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
1012019
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
992015
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
902016
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
852016
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
762016
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
592014
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
552014
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
492019
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
492017
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
412016
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
332012
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