Megalencephalic leukoencephalopathy with subcortical cysts is a developmental disorder of the gliovascular unit

Absence of the astrocyte-specific membrane protein MLC1 is responsible for megalencephalic leukoencephalopathy with subcortical cysts (MLC), a rare type of leukodystrophy characterized by early-onset macrocephaly and progressive white matter vacuolation that lead to ataxia, spasticity, and cognitive...

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Detalles Bibliográficos
Autores principales: Gilbert, Alice, Elorza-Vidal, Xabier, Rancillac, Armelle, Chagnot, Audrey, Yetim, Mervé, Hingot, Vincent, Deffieux, Thomas, Boulay, Anne-Cécile, Alvear-Perez, Rodrigo, Cisternino, Salvatore, Martin, Sabrina, Taïb, Sonia, Gelot, Aontoinette, Mignon, Virginie, Favier, Maryline, Brunet, Isabelle, Declèves, Xavier, Tanter, Mickael, Estevez, Raul, Vivien, Denis, Saubaméa, Bruno, Cohen-Salmon, Martine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2021
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8598235/
https://www.ncbi.nlm.nih.gov/pubmed/34723793
http://dx.doi.org/10.7554/eLife.71379

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8598235/
https://www.ncbi.nlm.nih.gov/pubmed/34723793
http://dx.doi.org/10.7554/eLife.71379

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