A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay–Sachs disease

By Martino S.  

Human Molecular Genetics, Vol. 14, Iss. 15, 2005-08 ,pp. : 2113-2123

Oxford University Press

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Molecular pathophysiology in Tay–Sachs and Sandhoff diseases as revealed by gene expression profiling

By Myerowitz R.  

Human Molecular Genetics, Vol. 11, Iss. 11, 2002-05 ,pp. : 1343-1351

Oxford University Press

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Assessing the Potential Success of Cystic Fibrosis Carrier Screening: Lessons Learned from Tay-Sachs Disease and β-Thalassemia

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Public Health Genomics, Vol. 13, Iss. 5, 2009-10 ,pp. : 310-319

Karger

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Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis

By Frisch Amos   Colombo Roberto   Michaelovsky Elena   Karpati Mazal   Goldman Boleslaw   Peleg Leah  

Human Genetics, Vol. 114, Iss. 4, 2004-03 ,pp. : 366-376

Springer Publishing Company

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Insulin receptor and lipid metabolism pathology in ataxin-2 knock-out mice

By Lastres-Becker Isabel   Brodesser Susanne   Ltjohann Dieter   Azizov Mekhman   Buchmann Jana   Hintermann Edith   Sandhoff Konrad   Schrmann Annette   Nowock Joachim   Auburger Georg  

Human Molecular Genetics, Vol. 17, Iss. 10, 2008-05 ,pp. : 1465-1481

Oxford University Press

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