Publicacións nas que colabora con Alejandro Ruíz Riquelme (4)
2021
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Celia’s encephalopathy (Bscl2-gene-related): Current understanding
Journal of Clinical Medicine, Vol. 10, Núm. 7
2016
2015
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Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease
Neurobiology of Disease, Vol. 83, pp. 44-53
2013
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A new seipin-associated neurodegenerative syndrome
Journal of Medical Genetics, Vol. 50, Núm. 6, pp. 401-409