Search Results - "Sugai, K."

A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures by Saito, T., Ishii, A., Sugai, K., Sasaki, M., Hirose, S.

“…Epilepsy of infancy with migrating focal seizures (EIMFS) is an infantile epileptic encephalopathy characterized by refractory seizures, severe psychomotor…”
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Characterization of the Native Disulfide Isomers of the Novel χ-Conotoxin PnID: Implications for Further Increasing Conotoxin Diversity by Espiritu, Michael J, Taylor, Jonathan K, Sugai, Christopher K, Thapa, Parashar, Loening, Nikolaus M, Gusman, Emma, Baoanan, Zenaida G, Baumann, Michael H, Bingham, Jon-Paul

“…χ-Conotoxins are known for their ability to selectively inhibit norepinephrine transporters, an ability that makes them potential leads for treating various…”
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Acute encephalitis with refractory, repetitive partial seizures (AERRPS): a peculiar form of childhood encephalitis by Sakuma, H., Awaya, Y., Shiomi, M., Yamanouchi, H., Takahashi, Y., Saito, Y., Sugai, K., Sasaki, M.

“…Sakuma H, Awaya Y, Shiomi M, Yamanouchi H, Takahashi Y, Saito Y, Sugai K, Sasaki M. Acute encephalitis with refractory, repetitive partial seizures (AERRPS): a…”
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Treatment of convulsive status epilepticus in infants and young children in Japan by Sugai, K.

“…We review the types and causes of convulsive status epilepticus (CSE) in infants and young children in Japan, and discuss the current recommendations for the…”
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Co-contraction of knee joint muscle following knee joint replacement during the one leg standing task by Ito, T, Kobayashi, T, Kannari, T, Horiuchi, H, Matsui, N, Kakuse, K, Nodin, K, Okawa, M, Sugai, K

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Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy by Yonekawa, Takahiro, Komaki, Hirofumi, Okada, Mari, Hayashi, Yukiko K, Nonaka, Ikuya, Sugai, Kenji, Sasaki, Masayuki, Nishino, Ichizo

“…Objective To characterise the natural history of Ullrich congenital muscular dystrophy (UCMD). Patients and methods Questionnaire-based nationwide survey to…”
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Imbalance of interneuron distribution between neocortex and basal ganglia: Consideration of epileptogenesis of focal cortical dysplasia by Sakakibara, T, Sukigara, S, Otsuki, T, Takahashi, A, Kaneko, Y, Kaido, T, Saito, Y, Sato, N, Nakagawa, E, Sugai, K, Sasaki, M, Goto, Y, Itoh, M

“…Abstract Aim The balance of excitation and inhibition of neurons and neuronal network is very important to perform complete neuronal function. Damage or loss…”
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Survival, growth and digestive enzyme activity of juveniles of the fat snook ( Centropomus parallelus) reared at different salinities by Tsuzuki, Mônica Y., Sugai, Juliet K., Maciel, Julio Cesar, Francisco, Claire J., Cerqueira, Vinícius R.

“…The effect of salinity on survival, growth and activity of digestive enzymes was evaluated in the fat snook ( Centropomus parallelus). Juveniles of 76 days…”
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Substitution effects of Ag into FeSe0.5Te0.5 superconductor by Migita, M., Takikawa, Y., Sugai, K., Takeda, M., Uehara, M., Kuramoto, T., Takano, Y., Mizuguchi, Y., Kimishima, Y.

“…► We investigate the influence on the pinning property by adding Ag in FeSe0.5Te0.5. ► Ag was doped into the lattice site of FeSe0.5Te0.5. ► The lattice…”
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Signal abnormalities of muscle and fascia in muscular MRI imaging at pretreatment stage in children with juvenile dermatomyositis by Ishiyama, A, Shibuya, I, Motohashi, Y, Takeshita, E, Komaki, H, Sugai, K, Sasaki, M, Mitsuhashi, S, Noguchi, S, Nonaka, I, Nishino, I

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Mutations in iron–sulfur cluster assembly gene IBA57 cause progressive cavitating leukoencephalopathy by Ishiyama, A, Sakai, C, Endo, Y, Mitsuhashi, S, Noguchi, S, Matsushima, Y, Hayashi, Y, Komaki, H, Sugai, K, Sasaki, M, Nonaka, I, Goto, Y, Nishino, I

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Type-specific selectivity pattern of skeletal muscle images in spinal muscular atrophy by Inoue, M, Ishiyama, A, Komaki, H, Takeshita, E, Shimizu-Motohashi, Y, Saito, T, Nakagawa, E, Sugai, K, Minami, N, Goto, Y, Sasaki, M

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Early scoliosis surgery may prevent deterioration of respiratory function in Ullrich congenital muscular dystrophy by Kohashi, K, Ishiyama, A, Takeshita, E, Shimizu-Motohashi, Y, Saito, T, Nakagawa, E, Komaki, H, Sugai, K, Nishino, I, Saito, W, Takaso, M, Sasaki, M

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Hemimegalencephaly: A Study of Abnormalities Occurring Outside the Involved Hemisphere by Sato, N, Yagishita, A, Oba, H, Miki, Y, Nakata, Y, Yamashita, F, Nemoto, K, Sugai, K, Sasaki, M

“…Hemimegalencephaly is a rare but well-known congenital malformation with ipsilateral enlargement of the hemicerebrum. However, very little is known about…”
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P.1.1 Natural history of Ullrich congenital muscular dystrophy by Yonekawa, T, Komaki, H, Okada, M, Hayashi, Y.K, Noguchi, S, Nonaka, I, Sugai, K, Sasaki, M, Nishino, I

“…Ullrich congenital muscular dystrophy (UCMD) is the second most common CMD in Japan. Mutations in either COL6A1 , COL6A2 , or COL6A3 gene, each encoding a…”
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G.P.262 by Okubo, M, Ishiyama, A, Komaki, H, Takeshita, E, Saito, T, Saito, Y, Nakagawa, E, Sugai, K, Hayashi, Y.K, Nishino, I, Sasaki, M

“…Nemaline myopathy (NM) is a clinically and genetically heterogeneous skeletal muscle disorder. An increasing number of reports have shown the usefulness of…”
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G.P.76 by Koichihara, R, Komaki, H, Ishiyama, A, Hayashi, Y.K, Tsuburaya, R.S, Saito, T, Saito, Y, Nakagawa, E, Sugai, K, Sasaki, M, Nonaka, I, Nishino, I

“…On the muscle pathology of juvenile dermatomyositis (JDM), the muscle fibers show necrosis often in a part of a muscle fascicle, but rare in large region. We…”
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The present status and problems of Compensation System for Birth Troubles by Sugai, K, Aso, K

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Improvement in training child neurologists by Sugai, K

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Aberrant Midsagittal Fiber Tracts in Patients with Hemimegalencephaly by Sato, N, Ota, M, Yagishita, A, Miki, Y, Takahashi, T, Adachi, Y, Nakata, Y, Sugai, K, Sasaki, M

“…In hemimegalencephaly, MR imaging often reveals midsagittal bandlike structures between the 2 lateral ventricles. To determine whether these structures are…”
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