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Diego Lorenzetti

Baylor College of Medicine

6

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617

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The neurological mutant quaking(viable) is Parkin deficient.

2004 Mammalian Genome
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Deletion of the Parkin coregulated gene causes male sterility in the quakingviable mouse mutant

2004 Proceedings of the National Academy of Sciences of the United States of America
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Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus

2000 Human Molecular Genetics
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Close Associations between Prevalences of Dominantly Inherited Spinocerebellar Ataxias with CAG-Repeat Expansions and Frequencies of Large Normal CAG Alleles in Japanese and Caucasian Populations

1998 American Journal of Human Genetics
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INTERRUPTIONS IN THE TRIPLET REPEATS OF SCA1 AND FRAXA REDUCE THE PROPENSITY AND COMPLEXITY OF SLIPPED STRAND DNA (S-DNA) FORMATION

1998 Biochemistry
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The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia

1997 Neurology
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Citations (65)