Recent progress on photoreactions in microreactors

…, T Ichimura, N Ohba, S Kumada… - Pure and Applied …, 2007 - degruyter.com
… the increasing rate hit a plateau at a longer irradiation time, whereas the yield in the microreactor
increased linearly and more quickly during the irradiation period examined up to 135 s. …

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

…, I Okada, Y Yoshimura, S Hirai, T Kumada… - Nature …, 2008 - nature.com
… collected samples and provided clinical information of the subjects; TM performed aCGH
and FISH analysis; HS, KN, AN, IO and YY provided gene sequences of the subjects; HS, S.-iH, …

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

…, T Nishimura, K Muramatsu, H Kodera, S Kumada… - Nature …, 2013 - nature.com
Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is a recently
established subtype of neurodegeneration with brain iron accumulation (NBIA) 1 , 2 , 3 . …

Photocatalytic reactions in microreactors

Y Matsushita, N Ohba, S Kumada, K Sakeda… - Chemical engineering …, 2008 - Elsevier
… The N-alkylation in ethanol proceeded within only 150 s to yield 85% of N-ethylbenzylamine …
The N-alkylation in ethanol proceeded within only 150 s to yield 43% of N-ethylbenzylamine …

Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review

K Watanabe, M Nakashima, S Kumada… - Journal of Human …, 2021 - nature.com
… We would like to thank the patient’s family for participating in this work. This work was
supported by Grant‐in‐Aid from the Ministry of Health, Labour and Welfare of Japan, Grants-in-Aid …

Oxidative stress in patients with clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS)

…, A Okumura, H Kashii, S Tomita, S Kumada… - Brain and …, 2012 - Elsevier
We examined oxidative stress markers, tau protein and cytokines in the cerebrospinal fluid (CSF)
in six patients with clinically mild encephalitis/encephalopathy with a reversible …

De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy

…, M Shiina, H Belal, S Mukaida, S Kumada… - Annals of …, 2018 - Wiley Online Library
… We generated the glutathione S-transferase (GST)-tagged VCA domain construct (middle)
and examined the binding of VCA and WT or mutants CYFIP2 (bottom, left). GST pull-down …

[HTML][HTML] Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6 …

…, SH Hahn, S Kumada, F Labarthe, H Ohki, S Pichard… - Genetics in …, 2023 - Elsevier
… No assessment scale was available at inclusion for 1 individual, who was included by the
principal investigator’s overall clinical evaluation confirming a plateau of motor development. …

Photocatalytic reduction in microreactors

Y Matsushita, S Kumada, K Wakabayashi… - Chemistry …, 2006 - academic.oup.com
… Reduction increased with increasing the residence time and reaches 45.7% at a residence
time of 60 s. Photoirradiation of the solution purged with oxygen did not yield any detectable p…

Prenatal clinical manifestations in individuals with COL4A1/2 variants

…, Y Takei, T Fukuyama, S Kumada… - Journal of Medical …, 2021 - jmg.bmj.com
… If you wish to reuse any or all of this article please use the link below which will take you to
the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and …