MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1

Literature (2)

Literature for OMIM 604004: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1

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Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects., Duarri A,Teijido O,López-Hernández T,Scheper GC,Barriere H,Boor I,Aguado F,Zorzano A,Palacín M,Martínez A,Lukacs GL,van der Knaap MS,Nunes V,Estévez R, Hum Mol Genet. December 1, 2008; 17(23):1460-2083.
GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit., Jeworutzki E,López-Hernández T,Capdevila-Nortes X,Sirisi S,Bengtsson L,Montolio M,Zifarelli G,Arnedo T,Müller CS,Schulte U,Nunes V,Martínez A,Jentsch TJ,Gasull X,Pusch M,Estévez R, Neuron. March 8, 2012; 73(5):0896-6273.

Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects., Duarri A,Teijido O,López-Hernández T,Scheper GC,Barriere H,Boor I,Aguado F,Zorzano A,Palacín M,Martínez A,Lukacs GL,van der Knaap MS,Nunes V,Estévez R, Hum Mol Genet. December 1, 2008; 17(23):1460-2083.

GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit., Jeworutzki E,López-Hernández T,Capdevila-Nortes X,Sirisi S,Bengtsson L,Montolio M,Zifarelli G,Arnedo T,Müller CS,Schulte U,Nunes V,Martínez A,Jentsch TJ,Gasull X,Pusch M,Estévez R, Neuron. March 8, 2012; 73(5):0896-6273.