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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 ...
Family-based association study of the loci 2 and 3 in a European restless legs syndrome population
(2007)
Three loci for the restless legs syndrome (RLS) on chromosomes 12q, 14q, and 9p (RLS 1, RLS2, and RLS3) have been mapped, but no gene has been identified as yet. RLS1 has been confirmed in families from three different ...
Motor signs during the course of Alzheimer disease
(2004)
Background: Motor signs (MOSIs) are common in Alzheimer disease (AD) and may be associated with rates of cognitive decline, mortality, and cost of care. Objective: To describe the progression and identify predictors of ...