Search Results - "Kotzuk, Joyce A."
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Intranuclear Inclusions and Neuritic Aggregates in Transgenic Mice Expressing a Mutant N-Terminal Fragment of Huntingtin
Published in Human molecular genetics (01-03-1999)“…Huntington's disease (HD) is an inherited, neurodegenerative disorder caused by the expansion of a glutamine repeat in the N-terminus of the huntingtin…”
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Widespread expression of Huntington's disease gene (IT15) protein product
Published in Neuron (Cambridge, Mass.) (01-05-1995)“…Huntington's Disease (HD) is caused by expansion of a CAG repeat within a putative open reading frame of a recently identified gene, IT15. We have examined the…”
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3
Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2
Published in Annals of neurology (01-11-2000)“…Intranuclear inclusions are one of the ultrastructural hallmarks of oculopharyngeal muscular dystrophy (OPMD), a disorder caused by small polyalanine (GCG)…”
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Intranuclear Neuronal Inclusions in Huntington's Disease and Dentatorubral and Pallidoluysian Atrophy: Correlation between the Density of Inclusions andIT15CAG Triplet Repeat Length
Published in Neurobiology of disease (01-01-1998)“…Huntington's disease (HD) is caused by CAG triplet repeat expansion inIT15which leads to polyglutamine stretches in the HD protein product, huntingtin. The…”
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5
Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: correlation between the density of inclusions and IT15 CAG triplet repeat length
Published in Neurobiology of disease (01-04-1998)“…Huntington's disease (HD) is caused by CAG triplet repeat expansion in IT15 which leads to polyglutamine stretches in the HD protein product, huntingtin. The…”
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Journal Article