CareLit · DOI-Nachweis · Aktuelle Neurologie
Haplotype analysis in German SCA17 families
DOI 10.1055/s-2005-919542
Bibliografische Angaben
Nachweis in CareLit
Autor:innenP Bauer, J Tomiuk, C Bauer, A Rolfs, L Schöls, O Rieß
ZeitschriftAktuelle Neurologie
Ausgabe10/2005
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
SCA17 is a progressive neurodegenerative disease leading to cerebellar ataxia and dementia. Several accessorial symptoms such as Parkinsonism, dystonia, and psychiatric disturbances commonly aggravate to disease course. Genetically, a CAG/CAA expansion in the TATA binding protein (TBP) is expanded in SCA17 patients, leading to an expanded polyglutamine chain in this ubiquitously expressed transcription factor. SCA17…
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Zitierempfehlung
P Bauer, J Tomiuk, C Bauer, A Rolfs, L Schöls, O Rieß (2005) Haplotype analysis in German SCA17 families. Aktuelle Neurologie (10). https://doi.org/10.1055/s-2005-919542
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