NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms

por Zanette, Vanessa, do Valle, Daniel, Telles, Bruno Augusto, Robinson, Alan J., Monteiro, Vaneisse, Santos, Mara Lucia S. F., Souza, Ricardo Lehtonen R., Benincá, Cristiane
Publicado 2021

Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations

por Zanette, Vanessa, Reyes, Aurelio, Johnson, Mark, do Valle, Daniel, Robinson, Alan J., Monteiro, Vaneisse, Telles, Bruno Augusto, L.R. Souza, Ricardo, S.F. Santos, Mara L, Benincá, Cristiane, Zeviani, Massimo
Publicado 2020

Inhibition of ATP synthase reverse activity restores energy homeostasis in mitochondrial pathologies

por Acin‐Perez, Rebeca, Benincá, Cristiane, Fernandez del Rio, Lucia, Shu, Cynthia, Baghdasarian, Siyouneh, Zanette, Vanessa, Gerle, Christoph, Jiko, Chimari, Khairallah, Ramzi, Khan, Shaharyar, Rincon Fernandez Pacheco, David, Shabane, Byourak, Erion, Karel, Masand, Ruchi, Dugar, Sundeep, Ghenoiu, Cristina, Schreiner, George, Stiles, Linsey, Liesa, Marc, Shirihai, Orian S
Publicado 2023

Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

por Benincá, Cristiane, Zanette, Vanessa, Brischigliaro, Michele, Johnson, Mark, Reyes, Aurelio, do Valle, Daniel Almeida, J. Robinson, Alan, Degiorgi, Andrea, Yeates, Anna, Telles, Bruno Augusto, Prudent, Julien, Baruffini, Enrico, S. F. Santos, Mara Lucia, R. de Souza, Ricardo Lehtonen, Fernandez-Vizarra, Erika, J. Whitworth, Alexander, Zeviani, Massimo
Publicado 2021