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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 ...
A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease
(2002)
We identified a novel stop codon mutation in the myophosphorylase gene in a Greek patient with typical symptoms of McArdle's disease. This is the first genetic study of myophosphorylase deficiency in a Greek family, showing ...
Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families
(2002)
Using direct sequencing and restriction fragment length polymorphism analysis, we identified two novel mutations in two unrelated Yemenite-Jewish families with typical symptoms of McArdle's disease. In one family, both ...
Association of tau haplotype-tagging polymorphisms with Parkinson's disease in diverse ethnic Parkinson's disease cohorts
(2006)
Background: The overlap in the clinical and pathological features of tauopathies and synucleinopathies raises the possibility that the tau protein may be important in Parkinson's disease (PD) pathogenesis. Several MAPT ...
Alpha-1 antichymotrypsin gene signal peptide A/T polymorphism and primary intracerebral hemorrhage
(2008)
Background/Aims: Alpha-1 antichymotrypsin (ACT), a serine proteinase inhibitor, has been implicated in vascular pathology. The TT genotype of the ACT signal peptide A/T polymorphism has been reported to confer susceptibility ...
The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations
(2006)
Coexistence of prion disease and idiopathic Parkinson's disease (TPD) has been previously described. It remains unclear whether this relationship may reflect the high incidence of IPD or whether both prion and IPD share ...