Genetic etiology of progressive pediatric neurological disorders

Aaltio, J., Etula, A., Ojanen, S., Brilhante, V., Lönnqvist, T., Isohanni, P. & Suomalainen, A., 2024, In: Pediatric Research. 95, p. 102–111 10 p.

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

Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity

Palmio, J., Kiviranta, P., Hartikainen, P. H., Isohanni, P., Auranen, M., Videman, K., Penttilä, S., Lehtinen, S., Kirjavainen, J., Hintikka, S., Paloviita, K., Saarela, J. & Udd, B., Jun 2024, In: Neurology Genetics. 10, 3, 7 p., e200155.

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Niacin supplementation in a child with novel MTTN variant m.5670A>G causing early onset mitochondrial myopathy and NAD⁺ deficiency

Aaltio, J., Euro, L., Tynninen, O., Vu, H. S., Ni, M., DeBerardinis, R. J., Suomalainen, A. & Isohanni, P., Oct 2024, In: Neuromuscular Disorders. 43, p. 14-19 6 p.

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Status epilepticus in POLG disease: a large multinational study

Hikmat, O., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Brodtkorb, E., Ostergaard, E., de Coo, I., Pias-Peleteiro, L., Isohanni, P., Uusimaa, J., Majamaa, K., Kärppä, M., Ortigoza-Escobar, J. D., Tangeraas, T., Berland, S., Harrison, E., Biggs, H., Horvath, R. & Darin, N. & 2 others, Rahman, S. & Bindoff, L. A., 2024, In: Journal of Neurology. 271, p. 5156-5164 9 p.

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Without ENMG, detecting pediatric vincristine neuropathy is a challenge

Viinikainen, K., Isohanni, P., Kanerva, J., Lönnqvist, T. & Lauronen, L., Jan 2024, In: Clinical neurophysiology practice. 9, p. 94-101 8 p.

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