Πλοήγηση ανά Θέμα "PARKINSONISM"
Αποτελέσματα 1-3 από 3
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How genetics research in Parkinson's disease is enhancing understanding of the common idiopathic forms of the disease
(2005)Purpose of review Rapid progress in genetics has meant that there are now five genes identified for 'Parkinson's disease'. The detailed phenotypes vary, but generally the dominant genes cause a Lewy body disease spectrum ... -
Novel Twinkle (PE01) gene mutations in mendelian progressive external ophthalmoplegia
(2008)Multiple deletions of mitochondrial DNA (mtDNA) are associated with different mitochondrial disorders inherited as autosomal dominant and recessive traits. Causative mutations have been found in five genes, mainly involved ... -
THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations
(2012)THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been ...