Tay-Sachs Disease, AB Variant

Known as: GM2 Protein Activator Deficiency Disease, GM2 Gangliosidosis, Type AB, Tay Sachs Disease, AB Variant 
A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is… (More)
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
β-Thalassemia (β-Thal) is a group of life-threatening blood disorders caused by either point mutations or deletions of… (More)
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Highly Cited
2011
Highly Cited
2011
The error rate of RNA-dependent RNA polymerases (RdRp) affects the mutation frequency in a population of viral RNAs. Using… (More)
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Highly Cited
2011
Highly Cited
2011
UNLABELLED Some patients with liver disease progress to cirrhosis, but the risk factors for cirrhosis development are unknown… (More)
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2011
2011
Late-onset GM2 gangliosidosis is an autosomal recessive, neurodegenerative, lysosomal storage disease, caused by deficiency of… (More)
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Highly Cited
2007
Highly Cited
2007
Late-onset GM2 gangliosidosis is composed of two related, autosomal recessive, neurodegenerative diseases, both resulting from… (More)
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Highly Cited
2005
Highly Cited
2005
Cytochrome P-450 2C9 (CYP2C9) polymorphisms (CYP2C9*2 and CYP2C9*3) reduce the clearance of warfarin, increase the risk of… (More)
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Highly Cited
2003
Highly Cited
2003
BACKGROUND Efforts to characterize changes in social functioning in frontotemporal dementia (FTD) have failed to elicit clear… (More)
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Highly Cited
2001
Highly Cited
2001
OBJECTIVE To describe the phenotype in 3 families with dominantly inherited cone and cone-rod dystrophy with mutations in… (More)
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Highly Cited
1999
Highly Cited
1999
Hedgehog (Hh) proteins play diverse organizing roles in development by regulating gene expression in responding cells. The Gli… (More)
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Highly Cited
1998
Highly Cited
1998
We report a mutation (Y99C) in guanylate cyclase activator 1A (GUCA1A), the gene for guanylate cyclase activating protein (GCAP1… (More)
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