Search for dissertations about: "Christine Van Broeckhoven"

Found 1 swedish dissertation containing the words Christine Van Broeckhoven.

2. 1. Genetic and Molecular analysis of the Spinocerebellar ataxia type 7 (SCA7) disease gene

   Author : Jenni Jonasson; Monica Holmberg; Christine Van Broeckhoven; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Spinocerebellar ataxia; human genetics; linkage analysis; anticipation; CAG repeat expansion; founder effect; protein expression; ATXN7; Medical genetics; Medicinsk genetik;

   Abstract : Spinocerebellar ataxia type 7 (SCA7) is a hereditary neurodegenerative disorder affecting the cerebellum, pons and retina. SCA7 patients present with gait ataxia and visual impairment as the main symptoms. READ MORE