Matches in SemOpenAlex for { <https://semopenalex.org/work/W1634586693> ?p ?o ?g. }
- W1634586693 endingPage "173" @default.
- W1634586693 startingPage "147" @default.
- W1634586693 abstract "Publisher Summary This chapter discusses the features of Friedreich's ataxia (FRDA) including clinical features, pathological features, and genetic features. Friedreich's ataxia usually presents in adolescence and clinical features includes a progressive limb and gait ataxia, absence of deep-tendon reflexes, extensor plantar responses, and loss of position and vibration sense in the lower limbs. Pathologically the most obvious findings are loss of large sensory neurones in the dorsal-root ganglia and deterioration of the sensory posterior and Clarke's columns, spinocerebellar tracts, and corticospinal motor tracts of the spinal cord. Effects of FRDA gene mutations are discussed in the chapter. FRDA molecular mechanisms involve iron metabolism, mitochondrial function, and oxidative stress. Clues to the molecular mechanisms underlying FRDA are dominated by the evidence that iron accumulation may be a relatively late event in the disease process, and frataxin may bind iron and either act as a mitochondrial iron store or keep it in a bioavailable form. As such, frataxin may play an important role in the process leading to Fe-S cluster synthesis." @default.
- W1634586693 created "2016-06-24" @default.
- W1634586693 creator A5011597344 @default.
- W1634586693 creator A5051696115 @default.
- W1634586693 date "2002-01-01" @default.
- W1634586693 modified "2023-09-26" @default.
- W1634586693 title "Friedreich's ataxia" @default.
- W1634586693 cites W1481697456 @default.
- W1634586693 cites W1484379620 @default.
- W1634586693 cites W1509127316 @default.
- W1634586693 cites W151933253 @default.
- W1634586693 cites W1792030127 @default.
- W1634586693 cites W1965953125 @default.
- W1634586693 cites W1967873911 @default.
- W1634586693 cites W1969490516 @default.
- W1634586693 cites W1975045295 @default.
- W1634586693 cites W1976493565 @default.
- W1634586693 cites W1976839484 @default.
- W1634586693 cites W1980218842 @default.
- W1634586693 cites W1983735106 @default.
- W1634586693 cites W1985844569 @default.
- W1634586693 cites W1986956276 @default.
- W1634586693 cites W1987421178 @default.
- W1634586693 cites W1988825354 @default.
- W1634586693 cites W1989329859 @default.
- W1634586693 cites W1991193245 @default.
- W1634586693 cites W1992187326 @default.
- W1634586693 cites W1992341335 @default.
- W1634586693 cites W1992544150 @default.
- W1634586693 cites W2001056553 @default.
- W1634586693 cites W2002390714 @default.
- W1634586693 cites W2002839092 @default.
- W1634586693 cites W2003418336 @default.
- W1634586693 cites W2004049878 @default.
- W1634586693 cites W2006358233 @default.
- W1634586693 cites W2006383772 @default.
- W1634586693 cites W2007247762 @default.
- W1634586693 cites W2007468135 @default.
- W1634586693 cites W2009136033 @default.
- W1634586693 cites W2011181628 @default.
- W1634586693 cites W2011928819 @default.
- W1634586693 cites W2012275421 @default.
- W1634586693 cites W2014020549 @default.
- W1634586693 cites W2016973618 @default.
- W1634586693 cites W2017350699 @default.
- W1634586693 cites W2020369221 @default.
- W1634586693 cites W2025416685 @default.
- W1634586693 cites W2027903172 @default.
- W1634586693 cites W2028350218 @default.
- W1634586693 cites W2030468733 @default.
- W1634586693 cites W2031773431 @default.
- W1634586693 cites W2035064536 @default.
- W1634586693 cites W2036012667 @default.
- W1634586693 cites W2037074028 @default.
- W1634586693 cites W2040239256 @default.
- W1634586693 cites W2040923416 @default.
- W1634586693 cites W2041508675 @default.
- W1634586693 cites W2041815596 @default.
- W1634586693 cites W2042677915 @default.
- W1634586693 cites W2042755330 @default.
- W1634586693 cites W2043288745 @default.
- W1634586693 cites W2051182051 @default.
- W1634586693 cites W2053467285 @default.
- W1634586693 cites W2056991680 @default.
- W1634586693 cites W2057404038 @default.
- W1634586693 cites W2059831206 @default.
- W1634586693 cites W2060502831 @default.
- W1634586693 cites W2061510311 @default.
- W1634586693 cites W2062606602 @default.
- W1634586693 cites W2069849662 @default.
- W1634586693 cites W2072396956 @default.
- W1634586693 cites W2076004696 @default.
- W1634586693 cites W2076790103 @default.
- W1634586693 cites W2080731376 @default.
- W1634586693 cites W2085728679 @default.
- W1634586693 cites W2086300227 @default.
- W1634586693 cites W2087528807 @default.
- W1634586693 cites W2088216125 @default.
- W1634586693 cites W2090894527 @default.
- W1634586693 cites W2091206181 @default.
- W1634586693 cites W2095184629 @default.
- W1634586693 cites W2098905232 @default.
- W1634586693 cites W2100137986 @default.
- W1634586693 cites W2105564521 @default.
- W1634586693 cites W2105822562 @default.
- W1634586693 cites W2107717979 @default.
- W1634586693 cites W2109715166 @default.
- W1634586693 cites W2110864849 @default.
- W1634586693 cites W2114190171 @default.
- W1634586693 cites W2116755203 @default.
- W1634586693 cites W2124750046 @default.
- W1634586693 cites W2134102679 @default.
- W1634586693 cites W2137672734 @default.
- W1634586693 cites W2137770909 @default.
- W1634586693 cites W2138914270 @default.
- W1634586693 cites W2140354171 @default.
- W1634586693 cites W2140890859 @default.
- W1634586693 cites W2145136975 @default.