Rademakers, Rosa

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers

Finch, N., Carrasquillo, M. M., Baker, M., Rutherford, N. J., Coppola, G., DeJesus-Hernandez, M., Crook, R., Hunter, T., Ghidoni, R., Benussi, L., et al. (2011) · Neurology

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 243

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

Coppola, G., Chinnathambi, S., Lee, J. J., Dombroski, B. A., Baker, M. C., Soto-Ortolaza, A. I., Lee, S. E., Klein, E., Huang, A. Y., Sears, R., et al. (2012) · Human Molecular Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 240

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

Prudencio, M., Humphrey, J., Pickles, S., Brown, A.-L., Hill, S. E., Kachergus, J. M., Shi, J., Heckman, M. G., Spiegel, M. R., Cook, C., et al. (2020) · Journal of Clinical Investigation

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 231

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

Kouri, N., Ross, O. A., Dombroski, B., Younkin, C. S., Serie, D. J., Soto-Ortolaza, A., Baker, M., Finch, N. C. A., Yoon, H., Kim, J., et al. (2015) · Nature Communications

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

Cited by 219

Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study

Cash, D. M., Bocchetta, M., Thomas, D. L., Dick, K. M., van Swieten, J. C., Borroni, B., Galimberti, D., Masellis, M., Tartaglia, M. C., Rowe, J. B., et al. (2018) · Neurobiology of Aging

Dementia and Cognitive Impairment ResearchAmyotrophic Lateral Sclerosis Research

Cited by 200

Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion

Khan, B. K., Yokoyama, J. S., Takada, L. T., Sha, S. J., Rutherford, N. J., Fong, J. C., Karydas, A. M., Wu, T., Ketelle, R. S., Baker, M. C., et al. (2012) · Journal of Neurology, Neurosurgery & Psychiatry

Amyotrophic Lateral Sclerosis ResearchDementia and Cognitive Impairment Research

Cited by 185

Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation

Mackenzie, I. R. A., Ansorge, O., Strong, M., Bilbao, J., Zinman, L., Ang, L.-C., Baker, M., Stewart, H., Eisen, A., Rademakers, R., et al. (2011) · Acta Neuropathologica

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 183

Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study

van der Ende, E. L., Meeter, L. H., Poos, J. M., Panman, J. L., Jiskoot, L. C., Dopper, E. G. P., Papma, J. M., de Jong, F. J., Verberk, I. M. W., Teunissen, C., et al. (2019) · The Lancet Neurology

Amyotrophic Lateral Sclerosis ResearchDementia and Cognitive Impairment Research

Cited by 181

Frontotemporal lobar degeneration

Grossman, M., Seeley, W. W., Boxer, A. L., Hillis, A. E., Knopman, D. S., Ljubenov, P. A., Miller, B., Piguet, O., Rademakers, R., Whitwell, J. L., et al. (2023) · Nature Reviews Disease Primers

Dementia and Cognitive Impairment ResearchAmyotrophic Lateral Sclerosis Research

Cited by 178

TDP-43 frontotemporal lobar degeneration and autoimmune disease

Miller, Z. A., Rankin, K. P., Graff-Radford, N. R., Takada, L. T., Sturm, V. E., Cleveland, C. M., Criswell, L. A., Jaeger, P. A., Stan, T., Heggeli, K. A., et al. (2013) · Journal of Neurology, Neurosurgery & Psychiatry

Amyotrophic Lateral Sclerosis ResearchDementia and Cognitive Impairment Research

Cited by 170

TREM2 in CNS homeostasis and neurodegenerative disease

Painter, M. M., Atagi, Y., Liu, C.-C., Rademakers, R., Xu, H., Fryer, J. D., & Bu, G. (2015) · Molecular Neurodegeneration

Neuroinflammation and Neurodegeneration MechanismsPhagocytosis and Immune Regulation

Cited by 169

Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers

Lee, S. E., Sias, A. C., Mandelli, M. L., Brown, J. A., Brown, A. B., Khazenzon, A. M., Vidovszky, A. A., Zanto, T. P., Karydas, A. M., Pribadi, M., et al. (2017) · NeuroImage: Clinical

Amyotrophic Lateral Sclerosis ResearchDementia and Cognitive Impairment Research

Cited by 165

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy

Rademakers, R., Melquist, S., Cruts, M., Theuns, J., Del-Favero, J., Poorkaj, P., Baker, M., Sleegers, K., Crook, R., De Pooter, T., et al. (2005) · Human Molecular Genetics

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

Cited by 164

Homotypic fibrillization of TMEM106B across diverse neurodegenerative diseases

Chang, A., Xiang, X., Wang, J., Lee, C., Arakhamia, T., Simjanoska, M., Wang, C., Carlomagno, Y., Zhang, G., Dhingra, S., et al. (2022) · Cell

Alzheimer's disease research and treatmentsAmyotrophic Lateral Sclerosis Research

Cited by 150

Genetics of FTLD : overview and what else we can expect from genetic studies

Pottier, C., Ravenscroft, T. A., Sanchez‐Contreras, M., & Rademakers, R. (2016) · Journal of Neurochemistry

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 148

APOE ε2 is associated with increased tau pathology in primary tauopathy

Zhao, N., Liu, C.-C., Van Ingelgom, A. J., Linares, C., Kurti, A., Knight, J. A., Heckman, M. G., Diehl, N. N., Shinohara, M., Martens, Y. A., et al. (2018) · Nature Communications

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 139

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

The chromosome 9 ALS and FTD locus is probably derived from a single founder

Mok, K., Traynor, B. J., Schymick, J., Tienari, P. J., Laaksovirta, H., Peuralinna, T., Myllykangas, L., Chiò, A., Shatunov, A., Boeve, B. F., et al. (2012) · Neurobiology of Aging

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 131

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

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients

Prudencio, M., Gonzales, P. K., Cook, C. N., Gendron, T. F., Daughrity, L. M., Song, Y., Ebbert, M. T. W., van Blitterswijk, M., Zhang, Y.-J., Jansen-West, K., et al. (2017) · Human Molecular Genetics

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 122

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

DESGESCO (Dementia Genetics Spanish Consortium), E. (. D. E. D. B., van der Lee, S. J., biobank), E. (. D. E. D., IFGC (International FTD-Genomics Consortium), I. (. I. P. D. G. C., IPDGC (The International Parkinson Disease Genomics Consortium), Dementia), R.-F. (. A. M. F. I. F.-T., (NBB), N. B. B., The GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, Conway, O. J., Jansen, I., et al. (2019) · Acta Neuropathologica

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 120

Genetic and Clinical Features of Progranulin-Associated Frontotemporal Lobar Degeneration

Chen-Plotkin, A. S., Martinez-Lage, M., Sleiman, P. M. A., Hu, W., Greene, R., Wood, E. M., Bing, S., Grossman, M., Schellenberg, G. D., Hatanpaa, K. J., et al. (2011) · Archives of Neurology

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 120

Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer’s disease

Shinohara, M., Fujioka, S., Murray, M. E., Wojtas, A., Baker, M., Rovelet-Lecrux, A., Rademakers, R., Das, P., Parisi, J. E., Graff-Radford, N. R., et al. (2014) · Brain

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 115

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

Gendron, T. F., van Blitterswijk, M., Bieniek, K. F., Daughrity, L. M., Jiang, J., Rush, B. K., Pedraza, O., Lucas, J. A., Murray, M. E., Desaro, P., et al. (2015) · Acta Neuropathologica

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 106