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Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.
Duarri A, Lopez de Heredia M, Capdevila-Nortes X, Ridder MC, Montolio M, López-Hernández T, Boor I, Lien CF, Hagemann T, Messing A, Gorecki DC, Scheper GC, Martínez A, Nunes V, van der Knaap MS, Estévez R. Duarri A, et al. Among authors: ridder mc. Neurobiol Dis. 2011 Jul;43(1):228-38. doi: 10.1016/j.nbd.2011.03.015. Epub 2011 Apr 3. Neurobiol Dis. 2011. PMID: 21440627 Free PMC article.
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.
López-Hernández T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S, Duarri A, Schulte U, Fakler B, Nunes V, Scheper GC, Martínez A, Estévez R, van der Knaap MS. López-Hernández T, et al. Among authors: ridder mc. Am J Hum Genet. 2011 Apr 8;88(4):422-32. doi: 10.1016/j.ajhg.2011.02.009. Epub 2011 Mar 17. Am J Hum Genet. 2011. PMID: 21419380 Free PMC article.
Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle.
Dubey M, Bugiani M, Ridder MC, Postma NL, Brouwers E, Polder E, Jacobs JG, Baayen JC, Klooster J, Kamermans M, Aardse R, de Kock CP, Dekker MP, van Weering JR, Heine VM, Abbink TE, Scheper GC, Boor I, Lodder JC, Mansvelder HD, van der Knaap MS. Dubey M, et al. Among authors: ridder mc. Ann Neurol. 2015 Jan;77(1):114-31. doi: 10.1002/ana.24307. Epub 2014 Dec 4. Ann Neurol. 2015. PMID: 25382142
13 results