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

Publications 1991 2017

Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy

Vasilescu, C., Isohanni, P., Palomäki, M., Pihko, H., Suomalainen, A. & Carroll, C. J., Feb 2017, In : European Journal of Human Genetics. 25, 3, p. 366-370 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Kömpelö lapsi

Lano, A. & Pihko, H., 2017, Lääkärin käsikirja. Jousimaa, J., Alenius, H., Atula, S., Berghem, N., Kattainen, A., Kunnamo, I., Pelttari, H. & Teikari, M. (eds.). 12. uud. p. ed. Helsinki: Duodecim, p. 1257-1260 4 p.

Research output: Chapter in Book/Report/Conference proceedingChapterProfessional

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

Anttonen, A-K., Laari, A., Kousi, M., Yang, Y. J., Jääskeläinen, T., Somer, M., Siintola, E., Jakkula, E., Muona, M., Tegelberg, S., Lönnqvist, T., Pihko, H., Valanne, L., Paetau, A., Lun, M. P., Hästbacka, J., Kopra, O., Joensuu, T., Katsanis, N., Lehtinen, M. K. & 2 othersPalvimo, J. J. & Lehesjoki, A-E., May 2017, In : Brain : a journal of neurology. 140, p. 1267-1279 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

Muona, M., Fukata, Y., Anttonen, A-K., Laari, A., Palotie, A., Pihko, H., Lönnqvist, T., Valanne, L., Somer, M., Fukata, M. & Lehesjoki, A-E., 2016, In : Neurology Genetics. 2, 1, 8 p., e46.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Vammainen lapsi

Pihko, H., 2016, Lastentaudit. Rajantie, J., Heikinheimo, M. & Renko, M. (eds.). 6. uud. p. ed. Helsinki: Duodecim, p. 91-94 4 p.

Research output: Chapter in Book/Report/Conference proceedingChapterProfessional