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  • PL 63 (Haartmaninkatu 8)

    00014

    Finland

20162019
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Personal profile

Fields of Science

  • 3112 Neurosciences

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

Publications 2016 2019

A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement

Jackson, C. B., Huemer, M., Bolognini, R., Martin, F., Szinnai, G., Donner, B. C., Richter, U., Battersby, B. J., Nuoffer, J-M., Suomalainen, A. & Schaller, A., 15 Feb 2019, In : Human Molecular Genetics. 28, 4, p. 639-649 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions

Forsström, S., Jackson, C. B., Carroll, C. J., Kuronen, M., Pirinen, E., Pradhan, S., Marmyleva, A., Auranen, M., Kleine, I-M., Khan, N. A., Roivainen, A., Marjamäki, P., Liljenbäck, H., Wang, L., Battersby, B. J., Richter, U., Velagapudi, V., Nikkanen, J., Euro, L. & Suomalainen, A., 3 Dec 2019, In : Cell Metabolism. 30, 6, p. 1040-+ 22 p.

Research output: Contribution to journalArticleScientificpeer-review

Mitochondrial stress response triggered by defects in protein synthesis quality control

Richter, U., Ng, K. Y., Suomi, F., Marttinen, P., Turunen, T., Jackson, C., Suomalainen, A., Vihinen, H., Jokitalo, E., Nyman, T. A., Isokallio, M. A., Stewart, J. B., Mancini, C., Brusco, A., Seneca, S., Lombes, A., Taylor, R. W. & Battersby, B. J., Feb 2019, In : Life Science Alliance. 2, 1, 17 p., 201800219.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

Courage, C., Jackson, C. B., Owczarek-Lipska, M., Jamsheer, A., Sowinska-Seidler, A., Piotrowicz, M., Jakubowski, L., Dalleves, F., Riesch, E., Neidhardt, J. & Lemke, J. R., Dec 2019, In : American journal of medical genetics. Part A. 179, 12, p. 2447-2453 7 p.

Research output: Contribution to journalArticleScientificpeer-review

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
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