Hiltunen, Mikko

The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 9,434

FinnGen provides genetic insights from a well-phenotyped isolated population

Kurki, M. I., Karjalainen, J., Palta, P., Sipilä, T. P., Kristiansson, K., Donner, K. M., Reeve, M. P., Laivuori, H., Aavikko, M., Kaunisto, M. A., et al. (2023) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 4,233

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

Initiative, T. A. D. N., Hollingworth, P., CHARGE consortium, EADI1 consortium, Harold, D., Sims, R., Gerrish, A., Lambert, J.-C., Carrasquillo, M. M., Abraham, R., et al. (2011) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 1,997

A genomic mutational constraint map using variation in 76,156 human genomes

Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., et al. (2024) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,727

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

A structural variation reference for medical and population genetics

Collins, R. L., Brand, H., Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., et al. (2020) · Nature

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 1,037

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

APOE and Alzheimer disease: a major gene with semi-dominant inheritance

Genin, E., Hannequin, D., Wallon, D., Sleegers, K., Hiltunen, M., Combarros, O., Bullido, M. J., Engelborghs, S., De Deyn, P., Berr, C., et al. (2011) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 714

Altered Insulin Signaling in Alzheimer’s Disease Brain – Special Emphasis on PI3K-Akt Pathway

Gabbouj, S., Ryhänen, S., Marttinen, M., Wittrahm, R., Takalo, M., Kemppainen, S., Martiskainen, H., Tanila, H., Haapasalo, A., Hiltunen, M., et al. (2019) · Frontiers in Neuroscience

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 401

Depletion of GGA3 Stabilizes BACE and Enhances β-Secretase Activity

Tesco, G., Koh, Y. H., Kang, E. L., Cameron, A. N., Das, S., Sena-Esteves, M., Hiltunen, M., Yang, S.-H., Zhong, Z., Shen, Y., et al. (2007) · Neuron

Alzheimer's disease research and treatmentsCellular transport and secretion

Cited by 337

Astrocytes in the aging brain express characteristics of senescence-associated secretory phenotype: Astrocyte senescence in aging brain

Salminen, A., Ojala, J., Kaarniranta, K., Haapasalo, A., Hiltunen, M., & Soininen, H. (2011) · European Journal of Neuroscience

Telomeres, Telomerase, and SenescenceNeuroinflammation and Neurodegeneration Mechanisms

Cited by 333

PSEN1 Mutant iPSC-Derived Model Reveals Severe Astrocyte Pathology in Alzheimer's Disease

Oksanen, M., Petersen, A. J., Naumenko, N., Puttonen, K., Lehtonen, Š., Gubert Olivé, M., Shakirzyanova, A., Leskelä, S., Sarajärvi, T., Viitanen, M., et al. (2017) · Stem Cell Reports

Alzheimer's disease research and treatmentsPluripotent Stem Cells Research

Cited by 332

Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

de Rojas, I., Moreno-Grau, S., Tesi, N., Grenier-Boley, B., Andrade, V., Jansen, I. E., Pedersen, N. L., Stringa, N., Zettergren, A., Hernández, I., et al. (2021) · Nature Communications

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 324

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

Bis, J. C., Jian, X., Kunkle, B. W., Chen, Y., Hamilton-Nelson, K. L., Bush, W. S., Salerno, W. J., Lancour, D., Ma, Y., Renton, A. E., et al. (2020) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 248

Age-related macular degeneration (AMD): Alzheimer's disease in the eye?

Kaarniranta, K., Salminen, A., Haapasalo, A., Soininen, H., & Hiltunen, M. (2011) · Journal of Alzheimer s Disease

Retinal Diseases and TreatmentsAlzheimer's disease research and treatments

Cited by 248

Early Alzheimer’s disease pathology in human cortex involves transient cell states

Gazestani, V., Kamath, T., Nadaf, N. M., Dougalis, A., Burris, S. J., Rooney, B., Junkkari, A., Vanderburg, C., Pelkonen, A., Gomez-Budia, M., et al. (2023) · Cell

Alzheimer's disease research and treatmentsSingle-cell and spatial transcriptomics

Cited by 209

Anthocyanin-enriched bilberry and blackcurrant extracts modulate amyloid precursor protein processing and alleviate behavioral abnormalities in the APP/PS1 mouse model of Alzheimer’s disease

Vepsäläinen, S., Koivisto, H., Pekkarinen, E., Mäkinen, P., Dobson, G., McDougall, G. J., Stewart, D., Haapasalo, A., Karjalainen, R. O., Tanila, H., et al. (2013) · The Journal of Nutritional Biochemistry

Alzheimer's disease research and treatmentsMedicinal Plants and Neuroprotection

Cited by 150

Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

Jansen, I. E., van der Lee, S. J., Gomez-Fonseca, D., de Rojas, I., Dalmasso, M. C., Grenier-Boley, B., Zettergren, A., Mishra, A., Ali, M., Andrade, V., et al. (2022) · Acta Neuropathologica

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 132

Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease

EADI consortium, G. C., Lambert, J.-C., Grenier-Boley, B., Harold, D., Zelenika, D., Chouraki, V, Kamatani, Y., Sleegers, K., Ikram, M. A., Hiltunen, M., et al. (2013) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 129

Functional screening of Alzheimer risk loci identifies PTK2B as an in vivo modulator and early marker of Tau pathology

Dourlen, P., Fernandez-Gomez, F. J., Dupont, C., Grenier-Boley, B., Bellenguez, C., Obriot, H., Caillierez, R., Sottejeau, Y., Chapuis, J., Bretteville, A., et al. (2017) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 118

Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease

Le Guen, Y., Belloy, M. E., Grenier-Boley, B., de Rojas, I., Castillo-Morales, A., Jansen, I., Nicolas, A., Bellenguez, C., Dalmasso, C., Küçükali, F., et al. (2022) · JAMA Neurology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 93

Immunohistochemical Visualization of Amyloid-β Protein Precursor and Amyloid-β in Extra- and Intracellular Compartments in the Human Brain

Aho, L., Pikkarainen, M., Hiltunen, M., Leinonen, V., & Alafuzoff, I. (2010) · Journal of Alzheimer s Disease

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 71

Genetic loci associated with Alzheimer's disease and cerebrospinal fluid biomarkers in a Finnish case–control cohort

Elias-Sonnenschein, L. S., Helisalmi, S., Natunen, T., Hall, A., Paajanen, T., Herukka, S.-K., Laitinen, M., Remes, A. M., Koivisto, A. M., Mattila, K. M., et al. (2013) · PLoS ONE

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 70

Transcriptomics and mechanistic elucidation of Alzheimer's disease risk genes in the brain and in vitro models

Martiskainen, H., Viswanathan, J., Nykänen, N.-P., Kurki, M., Helisalmi, S., Natunen, T., Sarajärvi, T., Kurkinen, K. M. A., Pursiheimo, J.-P., Rauramaa, T., et al. (2015) · Neurobiology of Aging

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 70