Matches in SemOpenAlex for { <https://semopenalex.org/work/W1990476721> ?p ?o ?g. }
- W1990476721 endingPage "98" @default.
- W1990476721 startingPage "91" @default.
- W1990476721 abstract "The autosomal dominant cerebellar ataxias (ADCA) are a group of neurodegenerative disorders with ataxia and dysarthria as early and dominant signs. In ADCA type II, retinal degeneration causes severe visual impairment. ADCA type II has recently been mapped to chromosome 3p by three independent groups. In the family with ADCA type II studied here, the disease has been mapped to chromosome 3p12-p21.1. Histochemical examination of muscle biopsies in 5 cases showed slight neurogenic atrophy and irregular lobulated appearance or focal decreases of enzyme activity when staining for NADH dehydrogenase, succinic dehydrogenase and cytochrome oxidase. Ragged-red fibres were scarce. Electron microscopic examination showed uneven distribution of mitochondria with large fibre areas devoid of mitochondria and/or large subsarcolemmal accumulations of small rounded mitochondria, and frequent autophagic vacuoles. These vacuoles contained remnants of multiple small rounded organelles, possibly mitochondria, and had a remarkably consistent ultrastructural appearance. Biochemical investigation of mitochondrial function showed reduced activity of complex IV and slightly reduced activity of complex I in the respiratory chain in a severely affected child while no abnormalities were found in his affected uncle." @default.
- W1990476721 created "2016-06-24" @default.
- W1990476721 creator A5000085837 @default.
- W1990476721 creator A5003997214 @default.
- W1990476721 creator A5011710035 @default.
- W1990476721 creator A5052537640 @default.
- W1990476721 creator A5054315601 @default.
- W1990476721 creator A5066691500 @default.
- W1990476721 creator A5074908539 @default.
- W1990476721 creator A5077428949 @default.
- W1990476721 date "1996-12-01" @default.
- W1990476721 modified "2023-10-18" @default.
- W1990476721 title "Muscle morphology and mitochondrial investigations of a family with autosomal dominant cerebellar ataxia and retinal degeneration mapped to chromosome 3p12-p21.1" @default.
- W1990476721 cites W126279518 @default.
- W1990476721 cites W1544423740 @default.
- W1990476721 cites W1582080277 @default.
- W1990476721 cites W1768314913 @default.
- W1990476721 cites W1965358081 @default.
- W1990476721 cites W1970972148 @default.
- W1990476721 cites W1972666360 @default.
- W1990476721 cites W1976131446 @default.
- W1990476721 cites W1979771842 @default.
- W1990476721 cites W1980623602 @default.
- W1990476721 cites W1982641921 @default.
- W1990476721 cites W1993136260 @default.
- W1990476721 cites W1995931393 @default.
- W1990476721 cites W2000718921 @default.
- W1990476721 cites W2001445430 @default.
- W1990476721 cites W2008706402 @default.
- W1990476721 cites W2008736759 @default.
- W1990476721 cites W2012481532 @default.
- W1990476721 cites W2017638810 @default.
- W1990476721 cites W2019855110 @default.
- W1990476721 cites W2024276950 @default.
- W1990476721 cites W2044194726 @default.
- W1990476721 cites W2044295706 @default.
- W1990476721 cites W2046533569 @default.
- W1990476721 cites W2052756664 @default.
- W1990476721 cites W2058543711 @default.
- W1990476721 cites W2062033351 @default.
- W1990476721 cites W2072952476 @default.
- W1990476721 cites W2073012734 @default.
- W1990476721 cites W2078913984 @default.
- W1990476721 cites W2087023713 @default.
- W1990476721 cites W2109436341 @default.
- W1990476721 cites W2110008395 @default.
- W1990476721 cites W2113333419 @default.
- W1990476721 cites W2114626208 @default.
- W1990476721 cites W2120623874 @default.
- W1990476721 cites W2121082106 @default.
- W1990476721 cites W2121642311 @default.
- W1990476721 cites W2129166113 @default.
- W1990476721 cites W2137374371 @default.
- W1990476721 cites W2137546687 @default.
- W1990476721 cites W2141860557 @default.
- W1990476721 cites W2149919973 @default.
- W1990476721 cites W2151583103 @default.
- W1990476721 cites W2172635594 @default.
- W1990476721 cites W2255469197 @default.
- W1990476721 cites W2323651138 @default.
- W1990476721 cites W4234999650 @default.
- W1990476721 doi "https://doi.org/10.1016/s0022-510x(96)00187-6" @default.
- W1990476721 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8994109" @default.
- W1990476721 hasPublicationYear "1996" @default.
- W1990476721 type Work @default.
- W1990476721 sameAs 1990476721 @default.
- W1990476721 citedByCount "21" @default.
- W1990476721 countsByYear W19904767212012 @default.
- W1990476721 countsByYear W19904767212015 @default.
- W1990476721 countsByYear W19904767212018 @default.
- W1990476721 countsByYear W19904767212019 @default.
- W1990476721 countsByYear W19904767212020 @default.
- W1990476721 countsByYear W19904767212022 @default.
- W1990476721 crossrefType "journal-article" @default.
- W1990476721 hasAuthorship W1990476721A5000085837 @default.
- W1990476721 hasAuthorship W1990476721A5003997214 @default.
- W1990476721 hasAuthorship W1990476721A5011710035 @default.
- W1990476721 hasAuthorship W1990476721A5052537640 @default.
- W1990476721 hasAuthorship W1990476721A5054315601 @default.
- W1990476721 hasAuthorship W1990476721A5066691500 @default.
- W1990476721 hasAuthorship W1990476721A5074908539 @default.
- W1990476721 hasAuthorship W1990476721A5077428949 @default.
- W1990476721 hasConcept C104317684 @default.
- W1990476721 hasConcept C105702510 @default.
- W1990476721 hasConcept C142724271 @default.
- W1990476721 hasConcept C169760540 @default.
- W1990476721 hasConcept C24586158 @default.
- W1990476721 hasConcept C2775833069 @default.
- W1990476721 hasConcept C2780148635 @default.
- W1990476721 hasConcept C2780906641 @default.
- W1990476721 hasConcept C28859421 @default.
- W1990476721 hasConcept C54355233 @default.
- W1990476721 hasConcept C71924100 @default.
- W1990476721 hasConcept C86803240 @default.
- W1990476721 hasConceptScore W1990476721C104317684 @default.
- W1990476721 hasConceptScore W1990476721C105702510 @default.
- W1990476721 hasConceptScore W1990476721C142724271 @default.
- W1990476721 hasConceptScore W1990476721C169760540 @default.