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Pirjo Isohanni

  • Finland

1990 …2019
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Personal profile

Fields of Science

  • 312 Clinical medicine
  • 3112 Neurosciences
  • Mitochondrial disease

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

Publications 1990 2019

An unusual ryanodine receptor 1 (RYR1) phenotype Mild calf-predominant myopathy

Jokela, M., Tasca, G., Vihola, A., Mercuri, E., Jonson, P-H., Lehtinen, S., Välipakka, S., Pane, M., Donati, M., Johari, M., Savarese, M., Huovinen, S., Isohanni, P., Palmio, J., Hartikainen, P. & Udd, B., 2 Apr 2019, In : Neurology. 92, 14, p. E1600-E1609 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Veltto imeväinen

Seppä-Moilanen, M., Isohanni, P. & Lönnqvist, T., 2019, In : Duodecim. 135, 4, p. 359-366 8 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

A complex genomic locus drives mtDNA replicase POLG expression to its disease-related nervous system regions

Nikkanen, J., Landoni, J. C., Balboa, D., Haugas, M., Partanen, J., Paetau, A., Isohanni, P., Brilhante, V. & Suomalainen, A., Jan 2018, In : EMBO molecular medicine. 10, 1, p. 13-21 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease

Bruni, F., Di Meo, I., Bellacchio, E., Webb, B. D., McFarland, R., Chrzanowska-Lightowlers, Z. M. A., He, L., Skorupa, E., Moroni, I., Ardissone, A., Walczak, A., Tyynismaa, H., Isohanni, P., Mandel, H., Prokisch, H., Haack, T., Bonnen, P. E., Enrico, B., Pronicka, E., Ghezzi, D. & 2 others, Taylor, R. W. & Diodato, D., Apr 2018, In : Human Mutation. 39, 4, p. 563-578 16 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Defective mitochondrial ATPase due to rare mtDNA m.8969G > A mutation-causing lactic acidosis, intellectual disability, and poor growth

Isohanni, P., Carroll, C. J., Jackson, C. B., Pohjanpelto, M., Lonnqvist, T. & Suomalainen, A., Jan 2018, In : Neurogenetics. 19, 1, p. 49-53 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File