20052020

Research output per year

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Personal profile

Fields of Science

  • 3112 Neurosciences

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

Publications

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome

Nevanlinna, V., Konovalova, S., Ceulemans, B., Muona, M., Laari, A., Hilander, T., Gorski, K., Valanne, L., Anttonen, A-K., Tyynismaa, H., Carolina, C. & Anna-Elina, L., Mar 2020, In : European Journal of Medical Genetics. 63, 3, 7 p., 103766.

Research output: Contribution to journalArticleScientificpeer-review

Constitutional mosaicism for aBRCA2mutation as a cause of early-onset breast cancer

Alhopuro, P., Vainionpää, R., Anttonen, A-K., Aittomäki, K., Nevanlinna, H. & Pöyhönen, M., 28 May 2020, In : Familial Cancer. 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Phenotypic and imaging spectrum associated with WDR45

Adang, L. A., Pizzino, A., Malhotra, A., Dubbs, H., Williams, C., Sherbini, O., Anttonen, A-K., Lesca, G., Linnankivi, T., Laurencin, C., Milh, M., Perrine, C., Schaaf, C. P., Poulat, A-L., Ville, D., Hagelstrom, T., Perry, D. L., Taft, R. J., Goldstein, A., Vossough, A. & 2 others, Helbig, I. & Vanderver, A., Aug 2020, In : Pediatric Neurology. 109, p. 56-62 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Urine microRNA Profiling Displays miR-125a Dysregulation in Children with Fragile X Syndrome

Putkonen, N., Laiho, A., Ethell, D., Pursiheimo, J., Anttonen, A-K., Pitkonen, J., Gentile, A. M., de Diego-Otero, Y. & Castren, M. L., Feb 2020, In : Cells. 9, 2, 14 p., 289.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Perinnöllisten oireyhtymien diagnostiikan periaatteet

Anttonen, A-K. & Ala-Mello, S., 2019, Vastasyntyneiden akuuttihoito. Luukkainen, P., Metsäranta, M. & Sankilampi, U. (eds.). 1. p. ed. Helsinki: Duodecim, p. 310-311 2 p.

Research output: Chapter in Book/Report/Conference proceedingChapterProfessional