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Amyotrophic lateral sclerosis (ALS) is a paralytic and usually fatal disorder caused by motor-neuron degeneration in the brain and spinal cord. Most cases of ALS are sporadic but about 5-10% are familial. Mutations in superoxide dismutase 1 (SOD1), TAR DNA-binding protein (TARDBP, also known as TDP43) and fused in sarcoma (FUS, also known as translocated in(More)
Video shot boundary detection (SBD) is the first and essential step for content-based video management and structural analysis. Great efforts have been paid to develop SBD algorithms for years. However, the high computational cost in the SBD becomes a block for further applications such as video indexing, browsing, retrieval, and representation. Motivated(More)
In multiloci-based genetic association studies of complex diseases, a powerful and high efficient tool for analyses of linkage disequilibrium (LD) between markers, haplotype distributions and many chi-square/p values with a large number of samples has been sought for long. In order to achieve the goal of obtaining meaningful results directly from raw data,(More)
BACKGROUND The SQSTM1 gene encodes p62, a major pathologic protein involved in neurodegeneration. OBJECTIVE To examine whether SQSTM1 mutations contribute to familial and sporadic amyotrophic lateral sclerosis (ALS). DESIGN Case-control study. SETTING Academic research. Patients  A cohort of 546 patients with familial (n = 340) or sporadic (n = 206)(More)
Twenty percent of the familial form of amyotrophic lateral sclerosis (ALS) is caused by mutations in the Cu, Zn-superoxide dismutase gene (SOD1) through the gain of a toxic function. The nature of this toxic function of mutant SOD1 has remained largely unknown. Here we show that WT SOD1 not only hastens onset of the ALS phenotype but can also convert an(More)
Scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC, also known as HMSN2C or Charcot-Marie-Tooth disease type 2C (CMT2C)) are phenotypically heterogeneous disorders involving topographically distinct nerves and muscles. We originally described a large New England family of French-Canadian origin(More)
Despite the rapid development, the field of Data mining and knowledge discovery (DMKD) is still vaguely defined and lack of integrated descriptions. This situation causes difficulties in teaching, learning, research, and application. This article surveys a large collection of DMKD literature to provide a comprehensive picture of current DMKD research and(More)
Leber congenital amaurosis (LCA) is an autosomal recessive retinal dystrophy that manifests with genetic heterogeneity. We sequenced the exome of an individual with LCA and identified nonsense (c.507G>A, p.Trp169*) and missense (c.769G>A, p.Glu257Lys) mutations in NMNAT1, which encodes an enzyme in the nicotinamide adenine dinucleotide (NAD) biosynthesis(More)
INTRODUCTION Several studies have implicated Helicobacter pylori as a risk factor in laryngeal cancer, but other studies disagree. It is fundamental that the relationship between Helicobacter pylori and laryngeal cancer be verified in order to provide evidence of ways to prevent the initiation and development of this carcinoma. MATERIALS AND METHODS In(More)
Mining concept drifting data streams is a defining challenge for data mining research. Recent years have seen a large body of work on detecting changes and building prediction models from stream data, with a vague understanding on the types of the concept drifting and the impact of different types of concept drifting on the mining algorithms. In this paper,(More)