Neurological Characteristics of Pediatric Glycogen Storage Disease

द्वारा Muzetti, Julio Henrique, do Valle, Daniel Almeida, Santos, Mara L. S. Ferreira, Telles, Bruno Augusto, Cordeiro, Mara L.
में प्रकाशित Front Endocrinol (Lausanne) (2021)

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

द्वारा 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
में प्रकाशित Neurol Genet (2020)

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

द्वारा 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
में प्रकाशित J Med Genet (2021)