Megalencephalic leukoencephalopathy with cysts: the Glialcam‐null mouse model

OBJECTIVE: Megalencephalic leukoencephalopathy with cysts (MLC) is a genetic infantile‐onset disease characterized by macrocephaly and white matter edema due to loss of MLC1 function. Recessive mutations in either MLC1 or GLIALCAM cause the disease. MLC1 is involved in astrocytic volume regulation;...

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Udgivet i:Ann Clin Transl Neurol
Main Authors: Bugiani, Marianna, Dubey, Mohit, Breur, Marjolein, Postma, Nienke L., Dekker, Marien P., ter Braak, Timo, Boschert, Ursula, Abbink, Truus E. M., Mansvelder, Huibert D., Min, Rogier, van Weering, Jan R. T., van der Knaap, Marjo S.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2017
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Research Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5497535/
https://ncbi.nlm.nih.gov/pubmed/28695146
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.405
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