Research Publications and Outputs: Recent submissions
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A mutation in bovine keratin 5 causing epidermolysis bullosa simplex, transmitted by a mosaic sire
Published 2005-01-01A mechanobullous skin disorder was identified in the progeny of a 3-y-old Friesian-Jersey crossbred bull. The condition presented as loss of skin and mucosa from contact areas and inflammation. Examination of skin samples ...Open AccessArticle -
Do polymorphisms in the familial Parkinsonism genes contribute to risk for sporadic Parkinson's disease?
Published 2009-01-01Recent whole genome association studies provided little evidence that polymorphisms at the familial Parkinsonism loci influence the risk for Parkinson's disease (PD). However, these studies are not designed to detect the ...Open AccessArticle -
Haplotype analysis of the PARK 11 gene, GIGYF2, in sporadic Parkinson's disease
Published 2009-01-01Familial Parkinsonism (PARK) genes are strong candidates for conferring susceptibility to common forms of PD. However, most studies to date have provided little evidence that their common variants substantially influence ...Open AccessArticle -
Disease-specific, neurosphere-derived cells as models for brain disorders
Published 2010-01-01There is a pressing need for patient-derived cell models of brain diseases that are relevant and robust enough to produce the large quantities of cells required for molecular and functional analyses. We describe here a new ...Open AccessArticle -
Molecular investigation of TBP allele length: a SCA17 cellular model and population study
Published 2003-01-01Recently, an inherited spinocerebellar ataxia (SCA17) has been attributed to polyglutamine coding expansions within the gene coding for human TATA-box binding protein (TBP). The normal repeat range is 25-42 units with ...Open AccessArticle