O. Alonso-Luengo

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.

E. Ruiz-Pesini, R. Artuch, M. Bayona-Bafaluy, 2019, Molecular genetics and metabolism.

Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study

M. Couce, E. Galán-Gómez, E. Guillén-Navarro, 2013, Orphanet Journal of Rare Diseases.

Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum

J. García-Peñas, X. Altafaj, R. Cancho, 2021, International journal of molecular sciences.

[Miller-Dieker syndrome: a new case with cerebral echographic study].

J. Vaquerizo-Madrid, O. Alonso-Luengo, H. Gómez-Martín, 2000, Revista de neurologia.