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Lafora Disease: A Ubiquitination-Related Pathology

Lafora disease (LD, OMIM254780) is a rare and fatal form of progressive myoclonus epilepsy (PME). Among PMEs, LD is unique because of the rapid neurological deterioration of the patients and the appearance in brain and peripheral tissues of insoluble glycogen-like (polyglucosan) inclusions, named La...

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Detalles Bibliográficos
Autores principales: García-Gimeno, Maria Adelaida, Knecht, Erwin, Sanz, Pascual
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6116066/
https://www.ncbi.nlm.nih.gov/pubmed/30050012
http://dx.doi.org/10.3390/cells7080087