Pottier, Cyril

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

Pottier, C., Bieniek, K. F., Finch, N., van de Vorst, M., Baker, M., Perkersen, R., Brown, P., Ravenscroft, T., van Blitterswijk, M., Nicholson, A. M., et al. (2015) · Acta Neuropathologica

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 312

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

Pottier, C., Hannequin, D., Coutant, S., Rovelet-Lecrux, A., Wallon, D., Rousseau, S., Legallic, S., Paquet, C., Bombois, S., Pariente, J., et al. (2012) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 305

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

Nicolas, G., Pottier, C., Maltête, D., Coutant, S., Rovelet-Lecrux, A., Legallic, S., Rousseau, S., Vaschalde, Y., Guyant-Maréchal, L., Augustin, J., et al. (2013) · Neurology

Neurological diseases and metabolismNeurological and metabolic disorders

Cited by 279

Genetics of FTLD : overview and what else we can expect from genetic studies

Pottier, C., Ravenscroft, T. A., Sanchez‐Contreras, M., & Rademakers, R. (2016) · Journal of Neurochemistry

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 148

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

Pottier, C., Zhou, X., Perkerson, R. B., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López de Munain, A., et al. (2018) · The Lancet Neurology

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 131

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease

Rovelet-Lecrux, A., Charbonnier, C., Wallon, D., Nicolas, G., Seaman, M. N. J., Pottier, C., Breusegem, S. Y., Mathur, P. P., Jenardhanan, P., Le Guennec, K., et al. (2015) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 106

TYROBP genetic variants in early-onset Alzheimer's disease

Pottier, C., Ravenscroft, T. A., Brown, P. H., Finch, N. A., Baker, M., Parsons, M., Asmann, Y. W., Ren, Y., Christopher, E., Levitch, D., et al. (2016) · Neurobiology of Aging

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 94

Prosaposin is a regulator of progranulin levels and oligomerization

Nicholson, A. M., Finch, N. A., Almeida, M., Perkerson, R. B., van Blitterswijk, M., Wojtas, A., Cenik, B., Rotondo, S., Inskeep, V., Almasy, L., et al. (2016) · Nature Communications

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 91

Longitudinal analysis of a dominantly inherited Alzheimer disease mutation carrier protected from dementia

Llibre-Guerra, J. J., Fernandez, M. V., Joseph-Mathurin, N., Bian, S., Carter, K., Li, Y., Aschenbrenner, A. J., Pottier, C., Sigurdson, W., McDade, E., et al. (2025) · Nature Medicine

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 28

Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2

Marsh, J. A., Huang, G., Bowling, K., Renton, A. E., Ziegemeier, E., Ball, T., Pottier, C., Cruchaga, C., Day, G. S., Bateman, R. J., et al. (2025) · Neurotherapeutics

Alzheimer's disease research and treatmentsGenomics and Rare Diseases

Cited by 9