Showing 1 - 20 results of 33 for search '"Huntington’s disease"', query time: 0.08s Refine Results
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    Nucleic Acid-Based Therapy Approaches for Huntington's Disease by Tatyana Vagner, Deborah Young, Alexandre Mouravlev

    Published 2012-01-01
    “…Huntington's disease (HD) is caused by a dominant mutation that results in an unstable expansion of a CAG repeat in the huntingtin gene leading to a toxic gain of function in huntingtin protein which causes massive neurodegeneration mainly in the striatum and clinical symptoms associated with the disease. …”
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    Atypical Parkinsonism Revealing a Late Onset, Rigid and Akinetic Form of Huntington's Disease by A. Ciammola, J. Sassone, B. Poletti, N. Mencacci, R. Benti, V. Silani

    Published 2011-01-01
    “…Huntington's disease (HD) is a rare hereditary neurodegenerative disorder characterized in over 90 percent of cases by chorea as the presenting motor symptom. …”
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    From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17 by Georgios Koutsis, Marios Panas, George P. Paraskevas, Anastasia M. Bougea, Athina Kladi, Georgia Karadima, Elisabeth Kapaki

    Published 2014-01-01
    “…It is a very heterogeneous ADCA characterized by ataxia, cognitive decline, psychiatric symptoms, and involuntary movements, with some patients presenting with Huntington disease (HD) phenocopies. The SCA 17 expansion is stable during parent-child transmission and intrafamilial phenotypic homogeneity has been reported. …”
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    Predicting Disease Onset from Mutation Status Using Proband and Relative Data with Applications to Huntington's Disease by Tianle Chen, Yuanjia Wang, Yanyuan Ma, Karen Marder, Douglas R. Langbehn

    Published 2012-01-01
    “…Huntington's disease (HD) is a progressive neurodegenerative disorder caused by an expansion of CAG repeats in the IT15 gene. …”
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