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Christopher Jackson

20162019
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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

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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Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy

Ignatenko, O., Chilov, D., Paetau, I., de Miguel, E., Jackson, C. B., Capin, G., Paetau, A., Terzioglu, M., Euro, L. & Suomalainen, A., 4 Jan 2018, In : Nature Communications. 9, 12 p., 70.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production

Amini, P., Stojkov, D., Felser, A., Jackson, C. B., Courage, C., Schaller, A., Gelman, L., Soriano, M. E., Nuoffer, J-M., Scorrano, L., Benarafa, C., Yousefi, S. & Simon, H-U., 27 Jul 2018, In : Nature Communications. 9, 16 p., 2958.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy

Jackson, C. B., Hahn, D., Schroter, B., Richter, U., Battersby, B. J., Schmitt-Mechelke, T., Marttinen, P., Nuoffer, J-M. & Schaller, A., Jun 2017, In : European Journal of Medical Genetics. 60, 6, p. 345-351 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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