PABLO
AGUIAR FERNANDEZ
Profesor contratado doutor
SOFIA
SANCHEZ IGLESIAS
Profesora axudante doutora
Publikationen, an denen er mitarbeitet SOFIA SANCHEZ IGLESIAS (4)
2023
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A murine model of BSCL2-associated Celia's encephalopathy
Neurobiology of Disease, Vol. 187
2019
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Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
Neurogenetics, Vol. 20, Núm. 2, pp. 73-82
2018
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Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy
European Journal of Human Genetics, Vol. 26, Núm. 3, pp. 396-406
2013
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A new seipin-associated neurodegenerative syndrome
Journal of Medical Genetics, Vol. 50, Núm. 6, pp. 401-409