Learn More
Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births. Many cases occur sporadically and impair reproductive fitness, suggesting a role for de novo mutations. Here we compare the incidence of de novo mutations in 362 severe CHD cases and 264 controls by analysing exome sequencing of parent-offspring trios. CHD cases(More)
PURPOSE In a previous investigation (Lah et al., 2004), we found deficits in retrograde memory in patients who had undergone temporal lobectomy (TL). In this study, we set out to determine whether such deficits are present before surgery in patients with temporal lobe epilepsy (TLE). METHODS Memory for public and autobiographic facts and events was(More)
A few previous studies have revealed impairments in remote memory in patients with temporal lobe epilepsy, but many questions about the importance of lesion side, type of material, seizure history and deficits in other aspects of cognitive functions remain unanswered. In this study, patients who had undergone unilateral (15 right and 15 left) temporal(More)
Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset neurodegenerative disease primarily affecting motor neurons. We recently identified intermediate-length polyglutamine (polyQ) expansions (27-33 Qs) in ataxin 2 as a genetic risk factor for sporadic ALS in North American ALS patients. To extend these findings, we assessed the ataxin 2 polyQ repeat(More)
Tetracycline or doxycycline (dox)-regulated control of genetic elements allows inducible, reversible and tissue specific regulation of gene expression in mice. This approach provides a means to investigate protein function in specific cell lineages and at defined periods of development and disease. Efficient and stable regulation of cDNAs or non-coding(More)
he Older Australian Twins Study (OATS) was recently initiated to investigate genetic and environmental factors and their associations and interactions in healthy brain ageing and ageing-related neurocognitive disorders. The study extends the classic MZ-DZ design to include one or two equivalently aged siblings for each twin pair and utilizes the rich(More)
"Executive functions" (EF) is a multidimensional construct which encompasses many higher-order cognitive control operations, and is considered a potential mediator of age-associated changes in other cognitive domains. Here we examine the heritability of four measures of EF, and the genetic influences on their covariation with general cognitive abilities(More)
In this review, we examined the published reports on the heritability of cognitive functioning in old age. Twenty-four papers from five study centers, comprising of participants with a mean age of 65 years and above were examined. The comparability of findings from different studies was compromised by the use of different measures for the same cognitive(More)
OBJECTIVE Age differences in episodic memory (memory) have been attributed to a general reduction in processing speed (the "speed mediation hypothesis"), but also to declines in the efficiency of executive functions operations ("executive decline hypothesis"). To test predictions from these competing models, we examined the mediating effects of processing(More)