Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

By López-Hernández Tania   Sirisi Sònia   Capdevila-Nortes Xavier   Montolio Marisol   Fernández-Dueñas Victor   Scheper Gert C.   van der Knaap Marjo S.   Casquero Pilar   Ciruela Francisco   Ferrer Isidre   Nunes Virginia   Estévez Raúl  

Human Molecular Genetics, Vol. 20, Iss. 16, 2011-08 ,pp. : 3266-3277

Oxford University Press

Access to resources Recommend Favorite

The DISC1 Ser704Cys substitution affects centrosomal localization of its binding partner PCM1 in glia in human brain

By Eastwood Sharon L.   Walker Mary   Hyde Thomas M.   Kleinman Joel E.   Harrison Paul J.  

Human Molecular Genetics, Vol. 19, Iss. 12, 2010-06 ,pp. : 2487-2496

Oxford University Press

Access to resources Recommend Favorite

Molecular Basis of the Brindled Mouse Mutant ( Mobr ): A Murine Model of Menkes Disease

By Grimes Andrew   Hearn Catherine J.   Lockhart Paul   Newgreen Don F.   Mercer Julian F. B.  

Human Molecular Genetics, Vol. 6, Iss. 7, 1997-01 ,pp. : 1037-1042

Oxford University Press

Access to resources Recommend Favorite

Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects

By Duarri Anna   Teijido Oscar   Lpez-Hernndez Tania   Scheper Gert C.   Barriere Herve   Boor Ilja   Aguado Fernando   Zorzano Antonio   Palacn Manuel   Martnez Albert   Lukacs Gergely L.   van der Knaap Marjo S.   Nunes Virginia   Estvez Ral  

Human Molecular Genetics, Vol. 17, Iss. 23, 2008-12 ,pp. : 3728-3739

Oxford University Press

Access to resources Recommend Favorite

Pioglitazone improves the phenotype and molecular defects of a targeted Pkd1 mutant

By Higashihara E.  

Human Molecular Genetics, Vol. 11, Iss. 15, 2002-07 ,pp. : 1731-1742

Oxford University Press

Access to resources Recommend Favorite