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Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy
Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding Ca(V)2.1 channel). The underlying pathomechanisms are unknown. We analyze clinical var...
Autores principales: | Izquierdo-Serra, Mercè, Martínez-Monseny, Antonio F., López, Laura, Carrillo-García, Julia, Edo, Albert, Ortigoza-Escobar, Juan Darío, García, Óscar, Cancho-Candela, Ramón, Carrasco-Marina, M Llanos, Gutiérrez-Solana, Luis G., Cuadras, Daniel, Muchart, Jordi, Montero, Raquel, Artuch, Rafael, Pérez-Cerdá, Celia, Pérez, Belén, Pérez-Dueñas, Belén, Macaya, Alfons, Fernández-Fernández, José M., Serrano, Mercedes |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5855841/ https://www.ncbi.nlm.nih.gov/pubmed/29470411 http://dx.doi.org/10.3390/ijms19020619 |
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