Fabrizi, Gian-Maria

Human mitochondrial DNA deletions associated with mutations in the gene encoding twinkle, a phage T7 gene 4-like protein localized in mitochondria

Spelbrink, J. N., Li, F.-Y., Tiranti, V., Nikali, K., Yuan, Q.-P., Tariq, M., Wanrooij, S., Garrido, N., Comi, G., Morandi, L., et al. (2001) · Nature Genetics

Mitochondrial Function and PathologyDNA Repair Mechanisms

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Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy

Filosto, M., Scarpelli, M., Tonin, P., Testi, S., Cotelli, M. S., Rossi, M., Salvi, A., Grottolo, A., Vielmi, V., Todeschini, A., et al. (2011) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersMitochondrial Function and Pathology

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