Remes, Anne M.

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

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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

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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

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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

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Probing sporadic and familial Alzheimer’s disease using induced pluripotent stem cells

Israel, M. A., Yuan, S. H., Bardy, C., Reyna, S. M., Mu, Y., Herrera, C., Hefferan, M. P., Van Gorp, S., Nazor, K. L., Boscolo, F. S., et al. (2012) · Nature

Alzheimer's disease research and treatmentsPluripotent Stem Cells Research

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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Majounie, E., Renton, A. E., Mok, K., Dopper, E. G., Waite, A., Rollinson, S., Chiò, A., Restagno, G., Nicolaou, N., Simon-Sanchez, J., et al. (2012) · The Lancet Neurology

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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

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Inhibition of Hypoxia-inducible Factor (HIF) Hydroxylases by Citric Acid Cycle Intermediates

Koivunen, P., Hirsilä, M., Remes, A. M., Hassinen, I. E., Kivirikko, K. I., & Myllyharju, J. (2007) · Journal of Biological Chemistry

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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

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Differential diagnosis of neurodegenerative diseases using structural MRI data

Koikkalainen, J., Rhodius-Meester, H., Tolonen, A., Barkhof, F., Tijms, B., Lemstra, A. W., Tong, T., Guerrero, R., Schuh, A., Ledig, C., et al. (2016) · NeuroImage: Clinical

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Serum neurofilament light chain is a discriminative biomarker between frontotemporal lobar degeneration and primary psychiatric disorders

Katisko, K., Cajanus, A., Jääskeläinen, O., Kontkanen, A., Hartikainen, P., Korhonen, V. E., Helisalmi, S., Haapasalo, A., Koivumaa-Honkanen, H., Herukka, S.-K., et al. (2020) · Journal of Neurology

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Incidence of Syndromes Associated With Frontotemporal Lobar Degeneration in 9 European Countries

Logroscino, G., Piccininni, M., Graff, C., Hardiman, O., Ludolph, A. C., Moreno, F., Otto, M., Remes, A. M., Rowe, J. B., Seelaar, H., et al. (2023) · JAMA Neurology

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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

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GFAP as a biomarker in frontotemporal dementia and primary psychiatric disorders: diagnostic and prognostic performance

Katisko, K., Cajanus, A., Huber, N., Jääskeläinen, O., Kokkola, T., Kärkkäinen, V., Rostalski, H., Hartikainen, P., Koivisto, A. M., Hannonen, S., et al. (2021) · Journal of Neurology, Neurosurgery & Psychiatry

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Five-class differential diagnostics of neurodegenerative diseases using random undersampling boosting

Tong, T., Ledig, C., Guerrero, R., Schuh, A., Koikkalainen, J., Tolonen, A., Rhodius, H., Barkhof, F., Tijms, B., Lemstra, A. W., et al. (2017) · NeuroImage: Clinical

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The phenotype of the C9ORF72 expansion carriers according to revised criteria for bvFTD

Solje, E., Aaltokallio, H., Koivumaa-Honkanen, H., Suhonen, N. M., Moilanen, V., Kiviharju, A., Traynor, B., Tienari, P. J., Hartikainen, P., & Remes, A. M. (2015) · PLOS ONE

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Serum GFAP and NfL levels in benign relapsing-remitting multiple sclerosis

Niiranen, M., Kontkanen, A., Jääskeläinen, O., Tertsunen, H.-M., Selander, T., Hartikainen, P., Huber, N., Solje, E., Haapasalo, A., Kokkola, T., et al. (2021) · Multiple Sclerosis and Related Disorders

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The Modified Frontal Behavioral Inventory (FBI-mod) for patients with frontotemporal lobar degeneration, Alzheimer’s disease, and mild cognitive impairment

Suhonen, N.-M., Hallikainen, I., Hänninen, T., Jokelainen, J., Krüger, J., Hall, A., Pikkarainen, M., Soininen, H., & Remes, A. M. (2017) · Journal of Alzheimer’s Disease

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