Rademakers, Rosa

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., et al. (2011) · Neuron

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 4,936

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

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

Baker, M., Mackenzie, I. R., Pickering-Brown, S. M., Gass, J., Rademakers, R., Lindholm, C., Snowden, J., Adamson, J., Sadovnick, A. D., Rollinson, S., et al. (2006) · Nature

Alzheimer's disease research and treatmentsAmyotrophic Lateral Sclerosis Research

Cited by 2,058

Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report

Nelson, P. T., Dickson, D. W., Trojanowski, J. Q., Jack, C. R., Boyle, P. A., Arfanakis, K., Rademakers, R., Alafuzoff, I., Attems, J., Brayne, C., et al. (2019) · Brain

Amyotrophic Lateral Sclerosis ResearchDementia and Cognitive Impairment Research

Cited by 1,547

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

Cruts, M., Gijselinck, I., van der Zee, J., Engelborghs, S., Wils, H., Pirici, D., Rademakers, R., Vandenberghe, R., Dermaut, B., Martin, J.-J., et al. (2006) · Nature

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 1,512

Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation

Lui, H., Zhang, J., Makinson, S. R., Cahill, M. K., Kelley, K. W., Huang, H.-Y., Shang, Y., Oldham, M. C., Martens, L. H., Gao, F., et al. (2016) · Cell

Neuroinflammation and Neurodegeneration MechanismsAmyotrophic Lateral Sclerosis Research

Cited by 729

A new subtype of frontotemporal lobar degeneration with FUS pathology

Neumann, M., Rademakers, R., Roeber, S., Baker, M., Kretzschmar, H. A., & Mackenzie, I. R. A. (2009) · Brain

Amyotrophic Lateral Sclerosis ResearchDementia and Cognitive Impairment Research

Cited by 722

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

PSP Genetics Study Group, Höglinger, G. U., Melhem, N. M., Dickson, D. W., Sleiman, P. M. A., Wang, L.-S., Klei, L., Rademakers, R., de Silva, R., Litvan, I., et al. (2011) · Nature Genetics

Parkinson's Disease Mechanisms and TreatmentsAlzheimer's disease research and treatments

Cited by 603

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

Apolipoprotein E Is a Ligand for Triggering Receptor Expressed on Myeloid Cells 2 (TREM2)

Atagi, Y., Liu, C.-C., Painter, M. M., Chen, X.-F., Verbeeck, C., Zheng, H., Li, X., Rademakers, R., Kang, S. S., Xu, H., et al. (2015) · Journal of Biological Chemistry

Neuroinflammation and Neurodegeneration MechanismsPhagocytosis and Immune Regulation

Cited by 587

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

Van Deerlin, V. M., Sleiman, P. M. A., Martinez-Lage, M., Chen-Plotkin, A., Wang, L.-S., Graff-Radford, N. R., Dickson, D. W., Rademakers, R., Boeve, B. F., Grossman, M., et al. (2010) · Nature Genetics

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 579

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

Rademakers, R., Baker, M., Nicholson, A. M., Rutherford, N. J., Finch, N., Soto-Ortolaza, A., Lash, J., Wider, C., Wojtas, A., DeJesus-Hernandez, M., et al. (2012) · Nature Genetics

Neuroinflammation and Neurodegeneration MechanismsHereditary Neurological Disorders

Cited by 571

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

van Rheenen, W., van der Spek, R. A. A., Bakker, M. K., van Vugt, J. J. F. A., Hop, P. J., Zwamborn, R. A. J., de Klein, N., Westra, H.-J., Bakker, O. B., Deelen, P., et al. (2021) · Nature Genetics

Amyotrophic Lateral Sclerosis ResearchGenetic Associations and Epidemiology

Cited by 542

Longitudinal Modeling of Age-Related Memory Decline and the APOE ε4 Effect

Caselli, R. J., Dueck, A. C., Osborne, D., Sabbagh, M. N., Connor, D. J., Ahern, G. L., Baxter, L. C., Rapcsak, S. Z., Shi, J., Woodruff, B. K., et al. (2009) · New England Journal of Medicine

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 528

TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson’s disease

Rayaprolu, S., Mullen, B., Baker, M., Lynch, T., Finger, E., Seeley, W. W., Hatanpaa, K. J., Lomen-Hoerth, C., Kertesz, A., Bigio, E. H., et al. (2013) · Molecular Neurodegeneration

Neuroinflammation and Neurodegeneration MechanismsAlzheimer's disease research and treatments

Cited by 404

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

Whitwell, J. L., Weigand, S. D., Boeve, B. F., Senjem, M. L., Gunter, J. L., DeJesus-Hernandez, M., Rutherford, N. J., Baker, M., Knopman, D. S., Wszolek, Z. K., et al. (2012) · Brain

Dementia and Cognitive Impairment ResearchAmyotrophic Lateral Sclerosis Research

Cited by 397

Detection of long repeat expansions from PCR-free whole-genome sequence data

Dolzhenko, E., van Vugt, J. J. F. A., Shaw, R. J., Bekritsky, M. A., van Blitterswijk, M., Narzisi, G., Ajay, S. S., Rajan, V., Lajoie, B. R., Johnson, N. H., et al. (2017) · Genome Research

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 388

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

Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank

Bieniek, K. F., Ross, O. A., Cormier, K. A., Walton, R. L., Soto-Ortolaza, A., Johnston, A. E., DeSaro, P., Boylan, K. B., Graff-Radford, N. R., Wszolek, Z. K., et al. (2015) · Acta Neuropathologica

Traumatic Brain Injury ResearchAlzheimer's disease research and treatments

Cited by 323

Progressive Supranuclear Palsy: Pathology and Genetics

Dickson, D. W., Rademakers, R., & Hutton, M. L. (2007) · Brain Pathology

Parkinson's Disease Mechanisms and TreatmentsDeep Brain Stimulation and Movement Disorders

Cited by 314

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

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

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72 -associated amyotrophic lateral sclerosis

Gendron, T. F., Chew, J., Stankowski, J. N., Hayes, L. R., Zhang, Y.-J., Prudencio, M., Carlomagno, Y., Daughrity, L. M., Jansen-West, K., Perkerson, E. A., et al. (2017) · Science Translational Medicine

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 265

Corticobasal degeneration: a pathologically distinct 4R tauopathy

Kouri, N., Whitwell, J. L., Josephs, K. A., Rademakers, R., & Dickson, D. W. (2011) · Nature Reviews Neurology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 246