Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel

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Human Molecular Genetics, Vol. 13, Iss. 6, 2004-03 ,pp. : 617-627

Oxford University Press

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Autophagic dysfunction in mucolipidosis type IV patients

By Vergarajauregui Silvia   Connelly Patricia S.   Daniels Mathew P.   Puertollano Rosa  

Human Molecular Genetics, Vol. 17, Iss. 17, 2008-09 ,pp. : 2723-2737

Oxford University Press

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X-Linked Liver Glycogenosis Type II (XLg II) Is Caused by Mutations in PHKA2 , the Gene Encoding the Liver α Subunit of Phosphorylase Kinase

By Hendrickx Jan   Dams Erna   Coucke Paul   Lee Philip   Fernandes John   Willems Patrick J.  

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Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

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Human Molecular Genetics, Vol. 12, Iss. 5, 2003-03 ,pp. : 463-471

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Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase

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Human Molecular Genetics, Vol. 14, Iss. 8, 2005-04 ,pp. : 1077-1086

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