Rogaeva, Ekaterina

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 4,409

Meta-Analysis of 74,046 Individuals Identifies 11 New Susceptibility Loci for Alzheimer’s Disease

(EADI), E. A. D. I., Lambert, J.-C., (GERAD), G. A. E. R. I. A. D., Alzheimer's Disease Genetic Consortium (ADGC), (CHARGE), C. F. H. A. A. R. I. G. E., Ibrahim-Verbaas, C. A., Harold, D., Naj, A. C., Sims, R., Bellenguez, C., et al. (2013) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 4,336

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

TREM2 Variants in Alzheimer's Disease

Guerreiro, R., Wojtas, A., Bras, J., Carrasquillo, M., Rogaeva, E., Majounie, E., Cruchaga, C., Sassi, C., Kauwe, J. S. K., Younkin, S., et al. (2013) · New England Journal of Medicine

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 3,020

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

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., et al. (2022) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 2,498

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

Sidransky, E., Nalls, M. A., Aasly, J. O., Aharon-Peretz, J., Annesi, G., Barbosa, E. R., Bar-Shira, A., Berg, D., Bras, J., Brice, A., et al. (2009) · New England Journal of Medicine

Lysosomal Storage Disorders ResearchParkinson's Disease Mechanisms and Treatments

Cited by 2,135

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

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

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 2,052

Analysis of shared heritability in common disorders of the brain

The Brainstorm Consortium, Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., et al. (2018) · Science

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,924

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

Naj, A. C., Jun, G., Beecham, G. W., Wang, L.-S., Vardarajan, B. N., Buros, J., Gallins, P. J., Buxbaum, J. D., Jarvik, G. P., Crane, P. K., et al. (2011) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 1,901

Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease

Escott-Price, V., Bellenguez, C., Wang, L.-S., Choi, S.-H., Harold, D., Jones, L., Holmans, P., Gerrish, A., Vedernikov, A., Richards, A., et al. (2014) · PLoS ONE

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 1,398

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

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with subtype and Stage inference

Young, A. L., Marinescu, R. V., Oxtoby, N. P., Bocchetta, M., Yong, K., Firth, N. C., Cash, D. M., Thomas, D. L., Dick, K. M., Cardoso, J., et al. (2018) · Nature Communications

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 596

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis

Rohrer, J. D., Nicholas, J. M., Cash, D. M., van Swieten, J., Dopper, E., Jiskoot, L., van Minkelen, R., Rombouts, S. A., Cardoso, M. J., Clegg, S., et al. (2015) · The Lancet Neurology

Dementia and Cognitive Impairment ResearchAmyotrophic Lateral Sclerosis Research

Cited by 538

Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study

Reiman, E. M., Arboleda-Velasquez, J. F., Quiroz, Y. T., Huentelman, M. J., Beach, T. G., Caselli, R. J., Chen, Y., Su, Y., Myers, A. J., Hardy, J., et al. (2020) · Nature Communications

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 473

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease

Cruchaga, C., Karch, C. M., Jin, S. C., Benitez, B. A., Cai, Y., Guerreiro, R., Harari, O., Norton, J., Budde, J., Bertelsen, S., et al. (2014) · Nature

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 461

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Chia, R., Sabir, M. S., Bandres-Ciga, S., Saez-Atienzar, S., Reynolds, R. H., Gustavsson, E., Walton, R. L., Ahmed, S., Viollet, C., Ding, J., et al. (2021) · Nature Genetics

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 438

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

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Moore, K. M., Nicholas, J., Grossman, M., McMillan, C. T., Irwin, D. J., Massimo, L., Van Deerlin, V. M., Warren, J. D., Fox, N. C., Rossor, M. N., et al. (2020) · The Lancet Neurology

Amyotrophic Lateral Sclerosis ResearchDementia and Cognitive Impairment Research

Cited by 313

A novel Alzheimer disease locus located near the gene encoding tau protein

Jun, G., Ibrahim-Verbaas, C. A., Vronskaya, M., Lambert, J.-C., Chung, J., Naj, A. C., Kunkle, B. W., Wang, L.-S., Bis, J. C., Bellenguez, C., et al. (2016) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 297

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

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

Guerreiro, R., Ross, O. A., Kun-Rodrigues, C., Hernandez, D. G., Orme, T., Eicher, J. D., Shepherd, C. E., Parkkinen, L., Darwent, L., Heckman, M. G., et al. (2018) · The Lancet Neurology

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 270

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

on behalf of the BELNEU CONSORTIUM, Gijselinck, I., Van Mossevelde, S., van der Zee, J., Sieben, A., Engelborghs, S., De Bleecker, J., Ivanoiu, A., Deryck, O., Edbauer, D., et al. (2016) · Molecular Psychiatry

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 242