Bruni, Amalia C.

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

Sherrington, R., Rogaev, E. I., Liang, Y., Rogaeva, E. A., Levesque, G., Ikeda, M., Chi, H., Lin, C., Li, G., Holman, K., et al. (1995) · Nature

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 4,051

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Alzheimer Disease Genetics Consortium (ADGC), Kunkle, B. W., The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), Genetic and Environmental Risk in AD/Defining Genetic, P. A. E. R. F. A. D. C. (., Grenier-Boley, B., Sims, R., Bis, J. C., Damotte, V., Naj, A. C., et al. (2019) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 2,946

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease

Rogaeva, E., Meng, Y., Lee, J. H., Gu, Y., Kawarai, T., Zou, F., Katayama, T., Baldwin, C. T., Cheng, R., Hasegawa, H., et al. (2007) · Nature Genetics

Alzheimer's disease research and treatmentsCellular transport and secretion

Cited by 1,167

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

ARUK Consortium, Sims, R., GERAD/PERADES, C., van der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Kunkle, B. W., Boland, A., et al. (2017) · Nature Genetics

Alzheimer's disease research and treatmentsNeuroinflammation and Neurodegeneration Mechanisms

Cited by 1,012

Global Prevalence of Young-Onset Dementia: A Systematic Review and Meta-analysis

Hendriks, S., Peetoom, K., Bakker, C., van der Flier, W. M., Papma, J. M., Koopmans, R., Verhey, F. R. J., de Vugt, M., Köhler, S., Young-Onset Dementia Epidemiology Study Group, et al. (2021) · JAMA Neurology

Dementia and Cognitive Impairment ResearchMental Health Treatment and Access

Cited by 409

Frontotemporal dementia and its subtypes: a genome-wide association study

Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks, W. S., Schofield, P. R., Halliday, G. M., et al. (2014) · The Lancet Neurology

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 383

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Rubino, E., Rainero, I., Chiò, A., Rogaeva, E., Galimberti, D., Fenoglio, P., Grinberg, Y., Isaia, G., Calvo, A., Gentile, S., et al. (2012) · Neurology

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 286

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

Swarup, V., Hinz, F. I., Rexach, J. E., Noguchi, K.-I., Toyoshiba, H., Oda, A., Hirai, K., Sarkar, A., Seyfried, N. T., Cheng, C., et al. (2019) · Nature Medicine

Alzheimer's disease research and treatmentsBioinformatics and Genomic Networks

Cited by 136

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

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Smith, K. R., Dahl, H.-H. M., Canafoglia, L., Andermann, E., Damiano, J., Morbin, M., Bruni, A. C., Giaccone, G., Cossette, P., Saftig, P., et al. (2013) · Human Molecular Genetics

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 130

Neuropsychiatric or behavioral and psychological symptoms of dementia (BPSD): focus on prevalence and natural history in Alzheimer’s disease and frontotemporal dementia

Laganà, V., Bruno, F., Altomari, N., Bruni, G., Smirne, N., Curcio, S., Mirabelli, M., Colao, R., Puccio, G., Frangipane, F., et al. (2022) · Frontiers in Neurology

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 105

Heterogeneity within a large kindred with frontotemporal dementia: A novel progranulin mutation

Bruni, A. C., Momeni, P., Bernardi, L., Tomaino, C., Frangipane, F., Elder, J., Kawarai, T., Sato, C., Pradella, S., Wakutani, Y., et al. (2007) · Neurology

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 77

NGF controls APP cleavage by downregulating APP phosphorylation at Thr668: relevance for Alzheimer's disease

Triaca, V., Sposato, V., Bolasco, G., Ciotti, M. T., Pelicci, P., Bruni, A. C., Cupidi, C., Maletta, R., Feligioni, M., Nisticò, R., et al. (2016) · Aging Cell

Alzheimer's disease research and treatmentsNeuroinflammation and Neurodegeneration Mechanisms

Cited by 73

The Genetic Variability of UCP4 Affects the Individual Susceptibility to Late-Onset Alzheimer’s Disease and Modifies the Disease’s Risk in APOE- ɛ 4 Carriers

Montesanto, A., Crocco, P., Anfossi, M., Smirne, N., Puccio, G., Colao, R., Maletta, R., Passarino, G., Bruni, A. C., & Rose, G. (2016) · Journal of Alzheimer s Disease

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 24

IP6K3 and IPMK Variations in LOAD and Longevity: Evidence for a Multifaceted Signaling Network at the Crossroad between Neurodegeneration and Survival

Dato, S., Crocco, P., De Rango, F., Iannone, F., Maletta, R., Bruni, A. C., Saiardi, A., Rose, G., & Passarino, G. (2021) · Mechanisms of Ageing and Development

Alzheimer's disease research and treatmentsGenetics, Aging, and Longevity in Model Organisms

Cited by 15

Uncoupling protein 4 (UCP4) gene variability in neurodegenerative disorders: Further evidence of association in Frontotemporal dementia

Montesanto, A., Crocco, P., Dato, S., Geracitano, S., Frangipane, F., Colao, R., Maletta, R., Passarino, G., Bruni, A. C., & Rose, G. (2018) · Aging

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 12