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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)
OBJECTIVE Given the recent finding of an association between intermediate-length polyglutamine (polyQ) expansions in ataxin 2 and amyotrophic lateral sclerosis (ALS), we sought to determine whether expansions in other polyQ disease genes were associated with ALS. METHODS We assessed the polyQ lengths of ataxin 1, ataxin 3, ataxin 6, ataxin 7, TBP,(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)
Seventeen obsessive-compulsive disorder patients treated with psychosurgery were administered a comprehensive neuropsychological test battery. Their performance on neuropsychological testing was compared with that of an age and severity matched sample of 17 OCD sufferers who had not received psychosurgery. The psychosurgery and control groups did not differ(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)
The postsynaptic membrane of the embryonic neuromuscular junction undergoes a dramatic expansion during later development to facilitate the depolarization of larger muscles. In C. elegans, the postsynaptic membrane resides at the termini of plasma membrane extensions called muscle arms. Membrane extension to the motor axons during larval development doubles(More)
Social cognition broadly refers to the processing of social information in the brain that underlies abilities such as the detection of others' emotions and responding appropriately to these emotions. Social cognitive skills are critical for successful communication and, consequently, mental health and wellbeing. Disturbances of social cognition are early(More)