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Publications 2014 2019

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2019

Oligogenic basis of sporadic ALS The example of SOD1 p.Ala90Val mutation

Kuuluvainen, L., Kaivola, K., Mönkäre, S., Laaksovirta, H., Jokela, M., Udd, B., Valori, M., Pasanen, P., Paetau, A., Traynor, B. J., Stone, D. J., Schleutker, J., Pöyhönen, M., Tienari, P. J. & Myllykangas, L., Jun 2019, In : Neurology Genetics. 5, 3, 6 p., 335.

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2018

Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+)

Mäkelä, M., Kaivola, K., Valori, M., Paetau, A., Polvikoski, T., Singleton, A. B., Traynor, B. J., Stone, D. J., Peuralinna, T., Tienari, P. J., Tanskanen, M. & Myllykangas, L., Feb 2018, In : Neurology Genetics. UNSP e211 .

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Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families

Mustonen, T., Schmidt, E-K., Valori, M., Tienari, P. J., Atula, S. & Kiuru-Enari, S., 2018, In : European Journal of Human Genetics. 26, p. 117–123 7 p.

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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

ITALSGEN Consortium, Genomic Translation ALS Care GTAC, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Fdn, Clinical Res ALS Related Disorders, SLAGEN Consortium, French ALS Consortium & Project MinE ALS Sequencing Consor, 21 Mar 2018, In : Neuron. 97, 6, p. 1268-+ 21 p.

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Phosphorylation of Parkin at serine 65 is essential for its activation in vivo

McWilliams, T., Barini, E., Pohjolan-Pirhonen, R., Brooks, S. P., Singh, F., Burel, S., Balk, K., Kumar, A., Montava-Garriga, L., Prescott, A. R., Hassoun, S. M., Mouton-Liger, F., Ball, G., Hills, R., Knebel, A., Ulusoy, A., Di Monte, D. A., Tamjar, J., Antico, O., Fears, K. & 11 others, Smith, L., Brambilla, R., Palin, E., Valori, M., Eerola-Rautio, J., Tienari, P., Corti, O., Dunnett, S. B., Ganley, I. G., Suomalainen, A. & Muqit, M. M. K., 7 Nov 2018, In : Open biology. 8, 11, 18 p., 180108.

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2017

A novel class of somatic mutations in blood detected preferentially in CD8+cells

Valori, M., Jansson, L., Kiviharju, A., Ellonen, P., Rajala, H., Awad, S., Mustjoki, S. & Tienari, P. J. L., Feb 2017, In : Clinical Immunology. 175, p. 75-81 7 p.

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Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2

Pasanen, P., Mäkinen, J., Myllykangas, L., Guerreiro, R., Bras, J., Valori, M., Viitanen, M., Baumann, M., Tienari, P. J., Pöyhönen, M. & Baumann, P., Jul 2017, In : Acta Neurologica Scandinavica. 136, 1, p. 59-63 5 p.

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2015

Exome and regulatory element sequencing of neuromyelitis optica patients

Siuko, M., Valori, M., Kivelä, T., Setälä, K., Morin, A., Kwan, T., Pastinen, T. & Tienari, P., 15 Dec 2015, In : Journal of Neuroimmunology. 289, p. 139-142 4 p.

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Genome-wide association study of neocortical Lewy-related pathology

Peuralinna, T., Myllykangas, L., Oinas, M., Nails, M. A., Keage, H. A. D., Isoviita, V-M., Valori, M. V. P., Polvikoski, T., Paetau, A., Sulkava, R., Ince, P. G., Zaccai, J., Brayne, C., Traynor, B. J., Hardy, J., Singleton, A. B. & Tienari, P. J., 18 Aug 2015, In : Annals of Clinical and Translational Neurology. 2, 9, p. 920–931 12 p.

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2014

Anima: modular workflow system for comprehensive image data analysis

Rantanen, V., Valori, M. & Hautaniemi, S., 30 Jul 2014, In : Frontiers in Bioengineering and Biotechnology. 2, p. 25 25.

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The C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation

Solje, E., Hartikainen, P., Valori, M., Vanninen, R., Tiihonen, J., Hakola, P., Tienari, P. J. & Remes, A. M., Jul 2014, In : Neurobiology of Aging. 35, 7, 5 p., ARTN 1780.e13.

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Use of IgE and IgG4 epitope binding to predict the outcome of oral immunotherapy in cow's milk allergy

Savilahti, E. M., Kuitunen, M., Valori, M., Rantanen, V., Bardina, L., Gimenez, G., Makela, M. J., Hautaniemi, S., Savilahti, E. & Sampson, H. A., May 2014, In : Pediatric Allergy and Immunology. 25, 3, p. 227-235 9 p.

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