Search Results - "Takada, Yui"
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Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome
Published in Human mutation (01-06-2017)“…Weaver syndrome (WS) is a rare congenital overgrowth disorder caused by heterozygous mutations in EZH2 (enhancer of zeste homolog 2) or EED (embryonic ectoderm…”
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Standard Error of the Mean and Minimal Detectable Change of Gait Speed in Older Adults Using Japanese Long-Term Care Insurance System
Published in Gerontology and geriatric medicine (2021)“…Evaluation of motor function, such as gait ability, can accurately predict the subsequent occurrence of disability in older adults. There are no reports of…”
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Clinical Utility of Highly Purified 10% Liquid Intravenous Immunoglobulin in Kawasaki Disease
Published in The Journal of pediatrics (01-11-2019)“…Compared with a 5% intravenous immunoglobulin, a 10% intravenous immunoglobulin as the first-line treatment of Kawasaki disease significantly reduced the fever…”
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Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency
Published in Brain & development (Tokyo. 1979) (01-03-2021)“…Peroxisomal acyl-CoA oxidase (ACOX1) deficiency is a rare autosomal recessive single enzyme deficiency characterized by hypotonia, seizures, failure to thrive,…”
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Sustained endocrine profiles of a girl with WAGR syndrome
Published in BMC medical genetics (23-10-2017)“…Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and…”
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Strategy in short-term memory for pictures in childhood: A near-infrared spectroscopy study
Published in NeuroImage (Orlando, Fla.) (01-02-2011)“…In Baddeley's working memory model, verbalizable visual material such as pictures are recoded into a phonological form and then rehearsed, while auditory…”
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A case of childhood stiff-person syndrome with striatal lesions: A possible entity distinct from the classical adult form
Published in Brain & development (Tokyo. 1979) (01-06-2013)“…Abstract Parainfectious or autoimmune striatal lesions have been repeatedly described in children. We report a 7-year-old girl with painful muscle spasms,…”
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Clinical and MRI characteristics of acute encephalopathy in congenital adrenal hyperplasia
Published in Journal of the neurological sciences (15-07-2011)“…Abstract Acute encephalopathy in childhood is frequently associated with common infections, especially in East Asia. Various types have been identified…”
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Alexander disease with mild dorsal brainstem atrophy and infantile spasms
Published in Brain & development (Tokyo. 1979) (01-05-2013)“…Abstract We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8 months of age. The patient had a cluster of…”
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The impact of electrosurgical devices on electromyography-based neuromuscular monitoring during abdominal laparotomy: a case series
Published in Journal of clinical monitoring and computing (01-08-2023)“…The present study aimed to evaluate the effect of electrosurgical devices on neuromuscular monitoring using an electromyography (EMG)-based neuromuscular…”
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Cover Image, Volume 38, Issue 6
Published in Human mutation (01-06-2017)Get full text
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Altered strategy in short-term memory for pictures in children with attention-deficit/hyperactivity disorder: A near-infrared spectroscopy study
Published in Psychiatry research. Neuroimaging (30-07-2014)“…Abstract Strategy in short-term memory for serially presented pictures shifts gradually from a non-phonological to a phonological method as memory ability…”
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Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency
Published in Brain & development (01-03-2021)Get full text
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