Nicolas, Gaël

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

Lanoiselée, H.-M., Nicolas, G., Wallon, D., Rovelet-Lecrux, A., Lacour, M., Rousseau, S., Richard, A.-C., Pasquier, F., Rollin-Sillaire, A., Martinaud, O., et al. (2017) · PLOS Medicine

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 616

Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

de Rojas, I., Moreno-Grau, S., Tesi, N., Grenier-Boley, B., Andrade, V., Jansen, I. E., Pedersen, N. L., Stringa, N., Zettergren, A., Hernández, I., et al. (2021) · Nature Communications

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 324

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

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

Bis, J. C., Jian, X., Kunkle, B. W., Chen, Y., Hamilton-Nelson, K. L., Bush, W. S., Salerno, W. J., Lancour, D., Ma, Y., Renton, A. E., et al. (2020) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 248

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Holstege, H., Hulsman, M., Charbonnier, C., Grenier-Boley, B., Quenez, O., Grozeva, D., van Rooij, J. G. J., Sims, R., Ahmad, S., Amin, N., et al. (2022) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 226

SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data

Campion, D., Charbonnier, C., & Nicolas, G. (2019) · Acta Neuropathologica

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 124

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

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer’s disease

Nicolas, G., Acuña‐Hidalgo, R., Keogh, M. J., Quenez, O., Steehouwer, M., Lelieveld, S., Rousseau, S., Richard, A., Oud, M. S., Marguet, F., et al. (2018) · Alzheimer's & Dementia

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 81

APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review

Sellal, F., Wallon, D., Martinez-Almoyna, L., Marelli, C., Dhar, A., Oesterlé, H., Rovelet-Lecrux, A., Rousseau, S., Kourkoulis, C. E., Rosand, J., et al. (2017) · Journal of Alzheimer’s Disease

Alzheimer's disease research and treatmentsIntracerebral and Subarachnoid Hemorrhage Research

Cited by 43

Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease

Rovelet-Lecrux, A., Feuillette, S., Miguel, L., Schramm, C., Pernet, S., Quenez, O., Ségalas-Milazzo, I., Guilhaudis, L., Rousseau, S., Riou, G., et al. (2021) · Acta Neuropathologica Communications

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 38

Non-microglial downregulation of PLCG2 impairs synaptic function and elicits Alzheimer disease-related hallmarks

Coulon, A., Rabiller, F., Takalo, M., Roy, A., Pelletier, A., Martiskainen, H., Siedlecki-Wullich, D., Lannette-Weimann, N., Majerníková, N., Grenon, A., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory)

Alzheimer's disease research and treatmentsNeuroscience and Neuropharmacology Research

Cited by 3

PLCG2 downregulation impairs synaptic function and increases Alzheimer’s disease hallmarks in neuronal cultures

Coulon, A., Rabiller, F., Takalo, M., Roy, A., Pelletier, A., Martiskainen, H., Siedlecki-Wullich, D., Lannette-Weimann, N., Majerníková, N., Grenon, A., et al. (2026) · Nature Genetics

Alzheimer's disease research and treatmentsNeuroscience and Neuropharmacology Research

Cited by 1