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BACKGROUND A complicated form of recessive hereditary spastic paraplegias (HSPs) with thin corpus callosum (TCC) was first described in Japan, and most of the Japanese families showed linkage to chromosome 15q13-15. A recessive HSP locus (SPG11) has also been mapped to chromosome 15q13-15 in Italian and North American families with and without TCC, and it(More)
BTBR T+tf/J (BTBR) mice display prominent behavioural deficits analogous to the defining symptoms of autism, a feature that has prompted a widespread use of the model in preclinical autism research. Because neuro-behavioural traits are described with respect to reference populations, multiple investigators have examined and described the behaviour of BTBR(More)
BACKGROUND Morphoanatomical MRI methods have recently begun to be applied in the mouse. However, substantial differences in the anatomical organisation of human and rodent brain prevent a straightforward extension of clinical neuroimaging tools to mouse brain imaging. As a result, the vast majority of the published approaches rely on tailored routines that(More)
The authors report on a novel frameshift mutation (c.1688insA) in the SPG3A gene resulting in premature translation termination of the gene product atlastin. These data add a new variant to the second disease gene in autosomal dominant hereditary spastic paraplegia (ADHSP) and lend definitive support to its causative role. By combining direct testing of(More)
Genetic variations in catechol-O-methyltransferase (COMT) that modulate cortical dopamine have been associated with pleiotropic behavioral effects in humans and mice. Recent data suggest that some of these effects may vary among sexes. However, the specific brain substrates underlying COMT sexual dimorphisms remain unknown. Here, we report that genetically(More)
The combined use of mice that have genetic mutations (transgenic mouse models) of human pathology and advanced neuroimaging methods (such as MRI) has the potential to radically change how we approach disease understanding, diagnosis and treatment. Morphological changes occurring in the brain of transgenic animals as a result of the interaction between(More)
The Wide Field Camera 3 on the Hubble Space Telescope is currently one of the most widely used instruments for observing exoplanetary atmospheres, especially with the use of the spatial scanning technique. An increasing number of exoplanets have been studied using this technique as it enables the observation of bright targets without saturating the(More)
The authors have made a study of CBF after (-)eburnamonine infusion, during angiographic examination of 6 patients with cerebrovascular insufficiency, for a hemodynamic evaluation of the drug efficacy on CBF. The measurement of CBF was done by 133Xe according to the method of Lassen and Ingvar. A correlation between clinical findings, angiographic findings(More)
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