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Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
(2014-09)
GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells. Loss-of-function mutations in GCH1 result in severe reduction of dopamine synthesis in nigrostriatal ...
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
(2016-07)
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated ...