Rousseau, Stéphane

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

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

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

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

Bellenguez, C., Charbonnier, C., Grenier-Boley, B., Quenez, O., Le Guennec, K., Nicolas, G., Chauhan, G., Wallon, D., Rousseau, S., Richard, A. C., et al. (2017) · Neurobiology of Aging

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 166

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

ABCA7 rare variants and Alzheimer disease risk

Le Guennec, K., Nicolas, G., Quenez, O., Charbonnier, C., Wallon, D., Bellenguez, C., Grenier-Boley, B., Rousseau, S., Richard, A.-C., Rovelet-Lecrux, A., et al. (2016) · Neurology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 69

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