20132019
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Research Output 2013 2019

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant

Lake, N. J., Formosa, L. E., Stroud, D. A., Ryan, M. T., Calvo, S. E., Mootha, V. K., Morar, B., Procopis, P. G., Christodoulou, J., Compton, A. G. & Thorburn, D. R., 1 Jul 2019, In : Human Mutation. 40, 7, p. 893-898 6 p.

Research output: Contribution to journalArticleResearchpeer-review

17 Citations (Scopus)

Building a complex complex: Assembly of mitochondrial respiratory chain complex I

Formosa, L. E., Dibley, M. G., Stroud, D. A. & Ryan, M. T., Apr 2018, In : Seminars in Cell and Developmental Biology. 76, p. 154-162 9 p.

Research output: Contribution to journalArticleOtherpeer-review

3 Citations (Scopus)

Mitochondrial OXPHOS complex assembly lines

Formosa, L. E. & Ryan, M. T., 1 May 2018, In : Nature Cell Biology. 20, 5, p. 511-513 3 p.

Research output: Contribution to journalEditorialOtherpeer-review

6 Citations (Scopus)

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

Thompson, K., Mai, N., Oláhová, M., Scialó, F., Formosa, L. E., Stroud, D. A., Garrett, M., Lax, N. Z., Robertson, F. M., Jou, C., Nascimento, A., Ortez, C., Jimenez-Mallebrera, C., Hardy, S. A., He, L., Brown, G. K., Marttinen, P., McFarland, R., Sanz, A., Battersby, B. J. & 5 others, Bonnen, P. E., Ryan, M. T., Chrzanowska-Lightowlers, Z. M. A., Lightowlers, R. N. & Taylor, R. W., 1 Nov 2018, In : EMBO Molecular Medicine. 10, 11, 13 p., e9060.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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10 Citations (Scopus)

Preservation of skeletal muscle mitochondrial content in older adults: relationship between mitochondria, fibre type and high-intensity exercise training

Wyckelsma, V. L., Levinger, I., McKenna, M. J., Formosa, L. E., Ryan, M. T., Petersen, A. C., Anderson, M. J. & Murphy, R. M., 1 Jun 2017, In : The Journal of Physiology. 595, 11, p. 3345-3359 15 p.

Research output: Contribution to journalArticleResearchpeer-review