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Spinocerebellar ataxia type 20.
Cerebellum. 2005;4(1):55-7. doi: 10.1080/14734220410019048.
Cerebellum. 2005.
PMID: 15895561
Spinocerebellar ataxia type 20 (SCA20) was reported in 2004 in a single Australian Anglo-Celtic pedigree. ...The locus mapped to the pericentromeric region of chromosome 11 with a LOD score of 4.47, and its candidate region overlaps that of SCA5 …
Spinocerebellar ataxia type 20 (SCA20) was reported in 2004 in a single Australian Anglo-Celtic pedigree. ...The …
Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.
Knight MA, Gardner RJ, Bahlo M, Matsuura T, Dixon JA, Forrest SM, Storey E.
Knight MA, et al.
Brain. 2004 May;127(Pt 5):1172-81. doi: 10.1093/brain/awh139. Epub 2004 Mar 3.
Brain. 2004.
PMID: 14998916
We describe a pedigree of Anglo-Celtic origin with a phenotypically unique form of dominantly inherited spinocerebellar ataxia (SCA) in 14 personally examined affected members. A remarkable observation is dentate nucleus calcification, producing a low signal on MRI sequenc …
We describe a pedigree of Anglo-Celtic origin with a phenotypically unique form of dominantly inherited spinocerebellar ataxia (SCA) in 14 p …
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