Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

van der Knoop, M. M., Maroofian, R., Fukata, Y., van Ierland, Y., Karimiani, E. G., Lehesjoki, A. E., Muona, M., Paetau, A., Miyazaki, Y., Hirano, Y., Selim, L., de Franca, M., Fock, R. A., Beetz, C., Ruivenkamp, C. A. L., Eaton, A. J., Morneau-Jacob, F. D., Sagi-Dain, L., Shemer-Meiri, L., Peleg, A., & 28 othersHaddad-Halloun, J., Kamphuis, D. J., Peeters-Scholte, C. M. P. C. D., Kurul, S. H., Horvath, R., Lochmueller, H., Murphy, D., Waldmueller, S., Spranger, S., Overberg, D., Muir, A. M., Rad, A., Vona, B., Abdulwahad, F., Maddirevula, S., Povolotskaya, I. S., Voinova, V. Y., Gowda, V. K., Srinivasan, V. M., Alkuraya, F. S., Mefford, H. C., Alfadhel, M., Haack, T. B., Striano, P., Severino, M., Fukata, M., Hilhorst-Hofstee, Y. & Houlden, H., 29 Jul 2022, In: Brain : a journal of neurology. 145, 7, p. 2301-2312 12 p.

Research output: Contribution to journal › Article › Scientific › peer-review

Distribution of Lewy-related pathology in the brain, spinal cord, and periphery: the population-based Vantaa 85+study

Raunio, A., Kivistö, V., Kero, M., Tuimala, J., Savola, S., Oinas, M., Kok, E., Colangelo, K., Paetau, A., Polvikoski, T., Tienari, P. J., Puttonen, H. & Myllykangas, L., 12 Dec 2022, In: Acta Neuropathologica Communications. 10, 1, 12 p., 178.

Research output: Contribution to journal › Article › Scientific › peer-review

Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disorders

Sainio, M. T., Aaltio, J., Hyttinen, V., Kortelainen, M., Ojanen, S., Paetau, A., Tienari, P., Ylikallio, E., Auranen, M. & Tyynismaa, H., Jan 2022, In: Acta Neurologica Scandinavica. 145, 1, p. 63-72 10 p.

Research output: Contribution to journal › Article › Scientific › peer-review

Primary age-related tauopathy in a Finnish population-based study of the oldest old (Vantaa 85+)

Savola, S., Kaivola, K., Raunio, A., Kero, M., Mäkelä, M., Pärn, K., Palta, P., Tanskanen, M., Tuimala, J., Polvikoski, T., Tienari, P. J., Paetau, A. & Myllykangas, L., Apr 2022, In: Neuropathology and Applied Neurobiology. 48, 3, 12 p., 12788.

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Alpha-synuclein pathology of olfactory bulbs/peduncles in the Vantaa85+cohort exhibit two divergent patterns: a population-based study

Kok, E. H., Savola, S., Raunio, A., Oinas, M., Tuimala, J., Polvikoski, T., Kero, M., Kaivola, K., Tienari, P. J., Paetau, A. & Myllykangas, L., Oct 2021, In: Acta Neuropathologica. 142, 4, p. 777-780 4 p.

Research output: Contribution to journal › Article › Scientific › peer-review