Search Results - "Segawa, M"
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Failure in restricting atonia in REM stage caused dysfunction of the dopamine neuron in childhood
Published in Sleep medicine (01-12-2013)“…Introduction Most of the neuropsychological disorders of children are caused by dysfunction of the serotonin and/or the noradrenergic neuron. Furthermore,…”
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Evaluation of nuclide density by neutron resonance transmission at the NOBORU instrument in J-PARC/MLF
Published in Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment (11-02-2015)“…It should be possible to non-destructively estimate nuclide density by analyzing the transmission dips due to the resonance absorption in neutron transmission…”
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Development of a high-speed camera system for neutron imaging at a pulsed neutron source
Published in Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment (01-01-2013)“…A neutron energy resolved imaging system with a time-of-flight technique has been newly developed and installed at Japan Proton Accelerator Research Complex…”
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Development of a pulsed neutron three-dimensional imaging system using a highly sensitive image-intensifier at J-PARC
Published in Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment (01-01-2015)“…To realize neutron energy resolved three-dimensional (3D) imaging in the resonance neutron energy region, a camera system coupled with a high sensitivity and…”
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First demonstration of neutron resonance absorption imaging using a high-speed video camera in J-PARC
Published in Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment (21-09-2011)“…The neutron resonance absorption imaging technique with a high-speed video camera was successfully demonstrated at the beam line NOBORU, J-PARC. Pulsed…”
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Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
Published in Nature genetics (01-11-1996)“…Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant, neurodegenerative disorder that affects the cerebellum and other areas of the central nervous…”
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Intracortical inhibition of the motor cortex in Segawa disease (DYT5)
Published in Neurology (27-03-2007)“…Segawa disease (autosomal dominant guanosine triphosphate cyclohydrolase I [GTP-I] deficiency, DYT5) is a hereditary dopa-responsive generalized dystonia. To…”
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Design study of the imaging beam line at J-PARC MLF, ERNIS
Published in Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment (21-09-2011)“…We have a plan to build an imaging beam line, Energy-Resolved Neutron Imaging System (ERNIS), at Materials and Life Science Experimental Facility (MLF) at…”
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Natural history of Rett syndrome
Published in Journal of child neurology (01-09-2005)“…Rett syndrome is a unique neurodevelopmental disorder, with onset of hypotonia, autistic tendency, and abnormalities of fine finger movements and gross…”
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Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
Published in Nature genetics (01-11-1994)“…Hereditary progressive dystonia with marked diurnal fluctuation (HPD) (also known as dopa responsive dystonia) is a dystonia with onset in childhood that shows…”
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Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain
Published in Journal of medical genetics (01-07-2003)“…Rett syndrome is a neurodevelopmental disorder with severe mental retardation caused by mutations in the MECP2 gene. Mutations in the MECP2 gene are also…”
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Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22–q24.1
Published in Journal of medical genetics (01-05-2004)“…[...]her clinical features are likely to be just phenotypic variations of the disease. [...]the genes located at the region shared in the deletion interval at…”
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P23-5 Pathophysiology of Tourette syndrome (TS) Premovement gating in SEPs and voluntary saccades
Published in Clinical neurophysiology (2010)Get full text
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Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33
Published in Nature genetics (01-11-1993)“…Fukuyama type congenital muscular dystrophy (FCMD) is an autosomal recessive severe muscular dystrophy associated with an anomaly of the brain. Twenty-one FCMD…”
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Pathophysiology of Rett syndrome from the standpoint of early catecholamine disturbance
Published in European child & adolescent psychiatry (1997)“…The polysomnography of Rett syndrome (RS) revealed early disturbance, hypofunctioning, of the noradrenaline, serotonin, and dopamine neurons…”
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Catamenial pneumothorax due to diaphragmatic endometriosis confirmed by histological examination; report of a case
Published in Kyobu geka. The Japanese journal of thoracic surgery (01-05-2011)“…We reported a case of catamenial pneumothorax caused by diaphragmatic endometriosis that was histologically confirmed. A 49-year-old female who had recurrent…”
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Saccade abnormalities in Parkinson’s disease
Published in Clinical neurophysiology (2007)Get full text
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Differential effects of sex steroid hormones on the expression of multiple first exons including a novel first exon of prolactin receptor gene in the rat liver
Published in Journal of molecular endocrinology (01-06-2005)“…In addition to the known four alternative first exons E11, E12, E13 and E14 of the rat prolactin receptor (PRL-R) gene, a novel first exon, E15, was identified…”
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Measurement system of the γ -ray angular distributions of the C ( α , γ ) 12 O 16 reaction
Published in Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment (01-08-2005)“…A new system to measure the γ -ray angular distributions of the C ( α , γ ) 12 O 16 reaction has been installed at the 3.2 MV Pelletron accelerator laboratory…”
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