Search Results - "Tsujino, Seiichi"

Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis by Yoshida, Tomokatsu, Sasaki, Masayuki, Yoshida, Mari, Namekawa, Michito, Okamoto, Yuji, Tsujino, Seiichi, Sasayama, Hiroshi, Mizuta, Ikuko, Nakagawa, Masanori

“…Alexander disease (AxD) is a rare neurodegenerative disorder characterized by white matter degeneration and formation of cytoplasmic inclusions. Glial…”
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Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones by Tajima, Youichi, Saito, Seiji, Ohno, Kazuki, Tsukimura, Takahiro, Tsujino, Seiichi, Sakuraba, Hitoshi

“…Recently, pharmacological chaperone therapy for Pompe disease with small molecules such as imino sugars has attracted interest. But mutant acid α-glucosidase…”
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Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid α-glucosidase" by Tajima, Youichi, Matsuzawa, Fumiko, Aikawa, Sei-Ichi, Okumiya, Toshika, Yoshimizu, Michiru, Tsukimura, Takahiro, Ikekita, Masahiko, Tsujino, Seiichi, Tsuji, Akihiko, Edmunds, Tim, Sakuraba, Hitoshi

“…We constructed structural models of the catalytic domain and the surrounding region of human wild-type acid alpha-glucosidase and the enzyme with amino acid…”
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Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease) by Tsujino, Seiichi, Shanske, Sara, DiMauro, Salvatore

“…The first description of a patient with myophosphorylase deficiency (McArdle's disease) was reported in 1951 by McArdle, who concluded that the disorder was…”
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Novel Deletion Mutation in GFAP Gene in an Infantile Form of Alexander Disease by Murakami, Nobuyuki, MD, PhD, Tsuchiya, Takayoshi, MD, Kanazawa, Naomi, MD, PhD, Tsujino, Seiichi, MD, PhD, Nagai, Toshiro, MD, PhD

“…Alexander disease is a rare, fatal neurologic disorder characterized by white-matter degeneration and cytoplasmic inclusions in astrocytes known as Rosenthal…”
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A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis by Sakakibara, Takafumi, Takahashi, Yukihiro, Fukuda, Kazuyoshi, Inoue, Tomomi, Kurosawa, Tomoko, Nishikubo, Toshiya, Shima, Midori, Taoka, Toshiaki, Aida, Noriko, Tsujino, Seiichi, Kanazawa, Naomi, Yoshioka, Akira

“…We encountered a male infant with infantile Alexander disease presenting with megalencephaly and hydrocephalus as a neonate and subtle seizures at 3 months of…”
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A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome by Torisu, Hiroyuki, Kira, Ryutaro, Kanazawa, Naomi, Takemoto, Megumi, Sanefuji, Masafumi, Sakai, Yasunari, Tsujino, Seiichi, Hara, Toshiro

“…The hyperornithinemia–hyperammonemia–homocitrullinuria (HHH) syndrome (MIM 238970) is an autosomal recessive metabolic disorder caused by a deficiency of the…”
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A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study by Saijo, Harumi, Nakayama, Harumi, Ezoe, Takanori, Araki, Katsuhito, Sone, Sui, Hamaguchi, Hiroshi, Suzuki, Hisaharu, Shiroma, Naohide, Kanazawa, Naomi, Tsujino, Seiichi, Hirayama, Yoshito, Arima, Masataka

“…Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder characterized by macrocephaly, deterioration of motor…”
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An infantile–juvenile form of Alexander disease caused by a R79H mutation in GFAP by Asahina, Naoko, Okamoto, Takayuki, Sudo, Akira, Kanazawa, Naomi, Tsujino, Seiichi, Saitoh, Shinji

“…Alexander disease is a degenerative white matter disorder due to mutations in the glial fibrillary acidic protein ( GFAP) gene. It has been classified into…”
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A common mutation and a novel mutation in Japanese patients with van der Knaap disease by Tsujino, Seiichi, Kanazawa, Naomi, Yoneyama, Hitoshi, Shimono, Masayuki, Kawakami, Akihiro, Hatanaka, Yuuki, Shimizu, Teruo, Oba, Hiroshi

“…Van der Knaap disease, or megalencephalic leukoencephalopathy with subcortical cysts (MLC), is an autosomal recessive disorder clinically characterized by…”
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MR imaging and 1H-MR spectroscopy of a case of van der Knaap disease by Morita, Hideyuki, Imamura, Atsushi, Matsuo, Naoki, Tatebayashi, Koji, Omoya, Kentaro, Takahashi, Yukitoshi, Tsujino, Seiichi

“…Van der Knaap disease, characterized by megalencephalic leukoencephalopathy and subcortical cysts, is a rare and recently defined condition. We discuss here…”
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A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P by Suzuki, Yoshiko, Kanazawa, Naomi, Takenaka, Junko, Okumura, Akihisa, Negoro, Tamiko, Tsujino, Seiichi

“…Alexander disease is a leukoencephalopathy that usually presents during infancy with developmental delay, macrocephaly and seizures. Several sequencing…”
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Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L by Shiroma, Naohide, Kanazawa, Naomi, Kato, Zenichiro, Shimozawa, Nobuyuki, Imamura, Atsushi, Ito, Masayuki, Ohtani, Kyoich, Oka, Akira, Wakabayashi, Kazuyo, Iai, Mizue, Sugai, Kenji, Sasaki, Masayuki, Kaga, Makiko, Ohta, Takao, Tsujino, Seiichi

“…Since the first report by Brenner et al. of mutations in the glial fibrillary acidic protein (GFAP) gene in patients with Alexander disease, several molecular…”
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Mitochondrial ornithine transporter deficiency by Tsujino, Seiichi, Miyamoto, Takeshi, Kanazawa, Naomi

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A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina) by Tsujino, S, Tonin, P, Shanske, S, Nohria, V, Boustany, R M, Lewis, D, Chen, Y T, DiMauro, S

“…We report on a 12-year-old boy with the myopathic form of phosphoglycerate kinase (PGK) deficiency, and unique kinetic and physical characteristics of the…”
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A case of long-term survival of a patient with infantile Alexander disease diagnosed by DNA analysis by Wakabayashi, Kazuyo, Lai, Mizue, Masuko, Kaori, Yamashita, Sumimasa, Yamada, Michiko, Iwamoto, Hiroko, Aida, Noriko, Shiroma, Naohide, Kanazawa, Naomi, Tsujino, Seiichi

“…Alexander disease is a hereditary disorder of myelin degeneration. The pathological feature of the brain is the characteristic inclusion bodies in astrocytes…”
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Amelioration of prolidase deficiency in fibroblasts using adenovirus mediated gene transfer by Ikeda, K, Tohyama, J, Tsujino, S, Sato, K, Oono, T, Arata, J, Endo, F, Sakuragawa, N

“…Prolidase deficiency is an autosomal recessive inherited disease characterized clinically by frequent infections, mental retardation, and various skin lesions…”
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Metabolic disorder of carbohydrate by Shiroma, Naohide, Tsujino, Seiichi

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CDNA microarray analysis of gene expression in fibroblasts of patients with x-linked Emery-Dreifuss muscular dystrophy by Tsukahara, Toshifumi, Tsujino, Seiichi, Arahata, Kiichi

“…To clarify the molecular nature of the pathogenesis in X‐linked Emery–Dreifuss muscular dystrophy (EDMD), we monitored the expression of 2400 genes in control…”
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Benign course of glycogen storage disease type IIb in two brothers: Nature or nurture? by Slonim, Alfred E., Bulone, Linda, Minikes, Jennifer, Hays, Arthur P., Shanske, Sara, Tsujino, Seiichi, DiMauro, Salvatore

“…Two brothers with the childhood variant of type II glycogenosis (GSD‐IIb) treated with nutrition and exercise therapy (NET) from a young age showed an…”
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