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OBJECTIVE To describe the clinical, genetic and MR characteristics of patients with familial mesial temporal lobe epilepsy (MTLE). DESIGN/METHODS The familial occurrence of MTLE was identified by a systematic search of family history of seizures in patients followed in the authors' epilepsy clinic. All probands and, whenever possible, other affected(More)
PURPOSE Familial forms of temporal lobe epilepsy have been described recently. A locus on ch 10q has been linked to partial epilepsy with auditory symptoms. We investigated the proportion of families segregating temporal lobe epilepsy (TLE) linked to ch 10q and sought to establish genotype-phenotype correlations. METHODS We studied 15 unrelated families(More)
Mixed lineage kinase 3 (MLK3) is a serine/threonine kinase, regulating MAPkinase signalling, in which cancer-associated mutations have never been reported. In this study, 174 primary gastrointestinal cancers (48 hereditary and 126 sporadic forms) and 7 colorectal cancer cell lines were screened for MLK3 mutations. MLK3 mutations were significantly(More)
  • Ramiro Moreira Gonçalves, Sónia Sousa, Santos, Elisabete Paulo Morais
  • 2010
access article distributed under the Creative Commons Attribution License unported 3.0, which permits unrestricted use, distribution, and reproduction in any medium, provided that original work is properly cited. Abstract The latest technological advances made over recent times led to a profound market change, characterized by increased competition. In(More)
Medulloblastoma is the most common malignant brain tumor in children. The presence of microsatellite instability (MSI) in brain tumors, particularly medulloblastomas, has not been properly addressed. The aim of the present study was to evaluate the role of MSI in medulloblastoma carcinogenesis. MSI status was determined in 36 patients using a pentaplex PCR(More)
The aim of the present study is to explore obsessive-compulsive disorder (OCD)-related abnormalities in white matter connectivity in OCD for a core region associated with inhibitory control [i.e. inferior frontal gyrus (IFG)]. Fifteen patients with OCD (11 men) and 15 healthy controls (nine men) underwent diffusion tensor imaging scanning to study four(More)
Individuals with Williams syndrome (WS) present a set of cognitive, affective and motor symptoms that resemble those of patients with lesions to the cerebellum. Although there is some evidence for overall structural alterations in this brain region in WS, explorations on cerebellar white matter and cerebellar cortex volumes remain rather neglected. We aimed(More)
Transcranial magnetic stimulation (TMS) was proposed in 1985. Nevertheless, its wider use in the treatment of several neurologic diseases has been hindered by its inability to stimulate deep-brain regions. This is mainly due to the physical limiting effect arising from the presence of surface discontinuities, particularly between the scalp and air. Here, we(More)
This paper describes a study being conducted on a graduate online distance education course at an African university in Cape Verde. The research focus is based on understanding the relation of trust and performance in such environments. This line of research builds on the belief that the trust that students put in three main components of online distance(More)