If you made any changes in Pure these will be visible here soon.

Personal profile

Fields of Science

  • 3111 Biomedicine
  • 318 Medical biotechnology

International and National Collaboration Publications and projects within past five years.

Publications 2014 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.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

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 .

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

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.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

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.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

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.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File