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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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Research Articles
Acesso em linha: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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