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Genetic basis of Parkinson disease
(2010)
Over the past few years, considerable progress has been made in understanding the molecular mechanisms of Parkinson disease (PD). Mutations in certain genes are found to cause monogenic forms of the disorder, with autosomal ...
Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset
(2010)
Parkinson's disease (PD), a common neurodegenerative disorder characterized by progressive loss of dopaminergic neurons and their terminations in the basal ganglia, is thought to be related to genetic and environmental ...
Genetic association studies in patients with traumatic brain injury
(2010)
Traumatic brain injury (TBI) constitutes a major cause of mortality and disability worldwide, especially among young individuals. It is estimated that despite all the recent advances in the management of TBI, approximately ...
Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene
(2010)
Phenotype of patients with the aprataxin gene mutation varies and according to previous studies, screening of aprataxin gene could be useful, once frataxin gene mutation is excluded in patients with normal GAA expansion ...