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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Detaylı Bibliyografya
Yayımlandı:Ann Clin Transl Neurol
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2017
Konular:
Research Articles
Online Erişim: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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