Ghezzi, Daniele

Genetic diagnosis of Mendelian disorders via RNA sequencing

Kremer, L. S., Bader, D. M., Mertes, C., Kopajtich, R., Pichler, G., Iuso, A., Haack, T. B., Graf, E., Schwarzmayr, T., Terrile, C., et al. (2017) · Nature Communications

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 590

POLG1 in idiopathic Parkinson disease

Tiangyou, W., Hudson, G., Ghezzi, D., Ferrari, G., Zeviani, M., Burn, D. J., & Chinnery, P. F. (2006) · Neurology

Parkinson's Disease Mechanisms and TreatmentsDeep Brain Stimulation and Movement Disorders

Cited by 50

Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease

Pagliarini, D., Sung, A., Guerra, R., Steenberge, L., Alston, C., Murayama, K., Okazaki, Y., Shimura, M., Prokisch, H., Ghezzi, D., et al. (2023) · Nature Metabolism

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 23