Missense mutations in COL8A2 , the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

By Kielty C.  

Human Molecular Genetics, Vol. 10, Iss. 21, 2001-10 ,pp. : 2415-2423

Oxford University Press

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SLC4A11 mutations in Fuchs endothelial corneal dystrophy

By Vithana Eranga N.   Morgan Patricio E.   Ramprasad Vedam   Tan Donald T.H.   Yong Victor H.K   Venkataraman Divya   Venkatraman Anandalakshmi   Yam Gary H.F.   Nagasamy Soumittra   Law Ricky W.K.   Rajagopal Rama   Pang Chi P.   Kumaramanickevel Govindsamy   Casey Joseph R.   Aung Tin  

Human Molecular Genetics, Vol. 17, Iss. 5, 2008-03 ,pp. : 656-666

Oxford University Press

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Early autophagic response in a novel knock-in model of Huntington disease

By Heng Mary Y.   Duong Duy K.   Albin Roger L.   Tallaksen-Greene Sara J.   Hunter Jesse M.   Lesort Mathieu J.   Osmand Alex   Paulson Henry L.   Detloff Peter J.  

Human Molecular Genetics, Vol. 19, Iss. 19, 2010-10 ,pp. : 3702-3720

Oxford University Press

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Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of MarinescoSjgren syndrome

By Zhao Lihong   Rosales Christine   Seburn Kevin   Ron David   Ackerman Susan L.  

Human Molecular Genetics, Vol. 19, Iss. 1, 2010-01 ,pp. : 25-35

Oxford University Press

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Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress

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Human Molecular Genetics, Vol. 18, Iss. 14, 2009-07 ,pp. : 2622-2631

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