Trabalhos Recentes
Nosso compromisso com a sociedade não se limita ao diagnóstico individual. Estamos constantemente trabalhando para facilitar o diagnóstico para todos. Aqui você encontra alguns dos nossos trabalhos científicos já publicados abaixo
Inhibition of ATP synthase reverse activity restores energy homeostasis in mitochondrial pathologies. Link: https://www.embopress.org/doi/full/10.15252/embj.2022111699
Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations. Link: https://ng.neurology.org/content/6/6/e521
NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms. Link: https://www.scielo.br/j/gmb/a/m5bqdMc7vvDhYMkvtD9ghGD/?lang=en#
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features. Link: https://jmg.bmj.com/content/58/3/155
