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- W2913492084 endingPage "287" @default.
- W2913492084 startingPage "273" @default.
- W2913492084 abstract "Diseases classified as spinocerebellar ataxias typically feature ataxia as a prominent feature, but many also are associated with various other neurological deficits. The term spinocerebellar ataxia usually implies inheritance with an autosomal dominant pattern, but sporadic forms exist. Because of significant clinical and pathological variability, even within single entities, spinocerebellar ataxias have been difficult to characterize and diagnose. Recent advances in genetic characterization have provided insight into better classification and understanding of the pathogenetic mechanisms of these diseases. A number of the spinocerebellar ataxias have been shown to have trinucleotide repeat expansions which can result in the expression of elongated polyglutamine residues in the protein encoded by the affected gene. In other spinocerebellar ataxias, nucleotide repeat expansions occur in non-translated regions of the gene and may alter gene expression in other ways. In yet other spinocerebellar ataxias structural proteins or functional proteins are mutated, but many of the spinocerebellar ataxias remain uncharacterized genetically." @default.
- W2913492084 created "2019-02-21" @default.
- W2913492084 creator A5046940016 @default.
- W2913492084 creator A5062004674 @default.
- W2913492084 creator A5084853134 @default.
- W2913492084 date "2011-09-02" @default.
- W2913492084 modified "2023-09-25" @default.
- W2913492084 title "Spinocerebellar Ataxias" @default.
- W2913492084 cites W1501756216 @default.
- W2913492084 cites W1513749224 @default.
- W2913492084 cites W1536477417 @default.
- W2913492084 cites W1549820035 @default.
- W2913492084 cites W1569018103 @default.
- W2913492084 cites W1622884348 @default.
- W2913492084 cites W1745187809 @default.
- W2913492084 cites W1964141302 @default.
- W2913492084 cites W1965357741 @default.
- W2913492084 cites W1965358081 @default.
- W2913492084 cites W1965568102 @default.
- W2913492084 cites W1967200471 @default.
- W2913492084 cites W1971047357 @default.
- W2913492084 cites W1972666360 @default.
- W2913492084 cites W1976131446 @default.
- W2913492084 cites W1977624575 @default.
- W2913492084 cites W1981145789 @default.
- W2913492084 cites W1985866397 @default.
- W2913492084 cites W1988723452 @default.
- W2913492084 cites W1989619236 @default.
- W2913492084 cites W1990288633 @default.
- W2913492084 cites W1992148356 @default.
- W2913492084 cites W1993136260 @default.
- W2913492084 cites W1993691393 @default.
- W2913492084 cites W1999595364 @default.
- W2913492084 cites W2002223545 @default.
- W2913492084 cites W2004428615 @default.
- W2913492084 cites W2005364165 @default.
- W2913492084 cites W2006336757 @default.
- W2913492084 cites W2007766074 @default.
- W2913492084 cites W2008526580 @default.
- W2913492084 cites W2011468133 @default.
- W2913492084 cites W2011881593 @default.
- W2913492084 cites W2013029120 @default.
- W2913492084 cites W2018298525 @default.
- W2913492084 cites W2019855110 @default.
- W2913492084 cites W2020426953 @default.
- W2913492084 cites W2020479551 @default.
- W2913492084 cites W2020975516 @default.
- W2913492084 cites W2021549542 @default.
- W2913492084 cites W2021828702 @default.
- W2913492084 cites W2024150064 @default.
- W2913492084 cites W2025197615 @default.
- W2913492084 cites W2028146863 @default.
- W2913492084 cites W2030213045 @default.
- W2913492084 cites W2034131948 @default.
- W2913492084 cites W2044295706 @default.
- W2913492084 cites W2044516928 @default.
- W2913492084 cites W2045268436 @default.
- W2913492084 cites W2048555293 @default.
- W2913492084 cites W2050012606 @default.
- W2913492084 cites W2050244960 @default.
- W2913492084 cites W2051032175 @default.
- W2913492084 cites W2052055943 @default.
- W2913492084 cites W2052159338 @default.
- W2913492084 cites W2052883021 @default.
- W2913492084 cites W2059827921 @default.
- W2913492084 cites W2061795762 @default.
- W2913492084 cites W2061923352 @default.
- W2913492084 cites W2062499257 @default.
- W2913492084 cites W2062712292 @default.
- W2913492084 cites W2063685191 @default.
- W2913492084 cites W2064317516 @default.
- W2913492084 cites W2064551580 @default.
- W2913492084 cites W2070053976 @default.
- W2913492084 cites W2074796477 @default.
- W2913492084 cites W2080828566 @default.
- W2913492084 cites W2082654611 @default.
- W2913492084 cites W2086858480 @default.
- W2913492084 cites W2088364990 @default.
- W2913492084 cites W2091137544 @default.
- W2913492084 cites W2092371719 @default.
- W2913492084 cites W2093918118 @default.
- W2913492084 cites W2094253654 @default.
- W2913492084 cites W2097978324 @default.
- W2913492084 cites W2102890672 @default.
- W2913492084 cites W2104720318 @default.
- W2913492084 cites W2104816479 @default.
- W2913492084 cites W2107576585 @default.
- W2913492084 cites W2107658207 @default.
- W2913492084 cites W2107813026 @default.
- W2913492084 cites W2109902738 @default.
- W2913492084 cites W2113158214 @default.
- W2913492084 cites W2114364233 @default.
- W2913492084 cites W2117435431 @default.
- W2913492084 cites W2120132168 @default.
- W2913492084 cites W2121053634 @default.
- W2913492084 cites W2121987454 @default.
- W2913492084 cites W2122980193 @default.
- W2913492084 cites W2127133389 @default.