Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene von Sakamoto, Osamu, Ohura, Toshihiro, Murayama, Kei, Ohtake, Akira, Harashima, Hiroko, Abukawa, Daiki, Takeyama, Junji, Haginoya, Kazuhiro, Miyabayashi, Shigeaki, Kure, Shigeo

Volltext

Detection of Human Coronavirus-NL63 in Children in Japan von Suzuki, Akira, Okamoto, Michiko, Ohmi, Akira, Watanabe, Oshi, Miyabayashi, Shigeaki, Nishimura, Hidekazu

Volltext

Linkage and association of childhood asthma with the chromosome 12 genes von Shao, Chenchen, Suzuki, Yoichi, Kamada, Fumiaki, Kanno, Kiyoshi, Tamari, Mayumi, Hasegawa, Koichi, Aoki, Yoko, Kure, Shigeo, Yang, Xue, Endo, Hiroko, Takayanagi, Reiko, Nakazawa, Chifuyu, Morikawa, Toshio, Morikawa, Miki, Miyabayashi, Shigeaki, Chiba, Yasushi, Karahashi, Minoru, Saito, Seichi, Tamura, Gen, Shirakawa, Taro, Matsubara, Yoichi

Volltext

Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNA gene mutation

Volltext

Efficacy of idebenone for respiratory failure in a patient with Leigh syndrome: A long-term follow-up study von Haginoya, Kazuhiro, Miyabayashi, Shigeaki, Kikuchi, Masahiro, Kojima, Akira, Yamamoto, Katsuya, Omura, Kiyoshi, Uematsu, Mitsugu, Hino-Fukuyo, Naomi, Tanaka, Soichiro, Tsuchiya, Shigeru

Volltext

Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone von Shimotori, Masaaki, Maruyama, Hiroki, Nakamura, Gen, Suyama, Takayuki, Sakamoto, Fumiko, Itoh, Masaaki, Miyabayashi, Shigeaki, Ohnishi, Takahiro, Sakai, Norio, Wataya-Kaneda, Mari, Kubota, Mitsuru, Takahashi, Toshiyuki, Mori, Tatsuhiko, Tamura, Katsuhiko, Kageyama, Shinji, Shio, Nobuo, Maeba, Teruhiko, Yahagi, Hirokazu, Tanaka, Motoko, Oka, Masayo, Sugiyama, Hitoshi, Sugawara, Toshiyuki, Mori, Noriko, Tsukamoto, Hiroko, Tamagaki, Keiichi, Tanda, Shuuji, Suzuki, Yuka, Shinonaga, Chiya, Miyazaki, Jun-ichi, Ishii, Satoshi, Gejyo, Fumitake

Volltext

Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy von Kure, S, Sakata, Y, Miyabayashi, S, Takahashi, K, Shinka, T, Matsubara, Y, Hoshino, H, Narisawa, K

Volltext

Identification of Inheritance Modes of Mitochondrial Diseases by Introduction of Pure Nuclei from mtDNA-less HeLa Cells to Patient-derived Fibroblasts von Isobe, K, Kishino, S, Inoue, K, Takai, D, Hirawake, H, Kita, K, Miyabayashi, S, Hayashi, J I

Volltext

The GSTP1 Gene Is a Susceptibility Gene for Childhood Asthma and the GSTM1 Gene Is a Modifier of the GSTP1 Gene von Kamada, Fumiaki, Mashimo, Yoichi, Inoue, Hiroki, Shao, Chenchen, Hirota, Tomomitsu, Doi, Satoru, Kameda, Makoto, Fujiwara, Hiroshi, Fujita, Kimie, Enomoto, Tadao, Sasaki, Sei, Endo, Hiroko, Takayanagi, Reiko, Nakazawa, Chifuyu, Morikawa, Toshio, Morikawa, Miki, Miyabayashi, Shigeaki, Chiba, Yasushi, Tamura, Gen, Shirakawa, Taro, Matsubara, Yoichi, Hata, Akira, Tamari, Mayumi, Suzuki, Yoichi

Volltext

Short communication: Efficacy of idebenone for respiratory failure in a patient with Leigh syndrome: A long-term follow-up study von Haginoya, Kazuhiro, Miyabayashi, Shigeaki, Kikuchi, Masahiro, Kojima, Akira, Yamamoto, Katsuya, Omura, Kiyoshi, Uematsu, Mitsugu, Hino-Fukuyo, Naomi, Tanaka, Soichiro, Tsuchiya, Shigeru

Volltext

Complete Repopulation of Mouse Mitochondrial DNA-less Cells With Rat Mitochondrial DNA Restores Mitochondrial Translation but Not Mitochondrial Respiratory Function von Yamaoka, Makiko, Isobe, Kotoyo, Shitara, Hiroshi, Yonekawa, Hiromichi, Miyabayashi, Shigeaki, Hayashi, Jun-Ichi

Volltext

A Unique Immunofluorescence Method Promotes Accurate Diagnosis in MYH9 Disorders: A Case Report von Yoshinari, Miyako, Kunishima, Shinji, Miyabayashi, Shigeaki, Saito, Hidehiko, Tsuchiya, Shigeru

Volltext

Chronic Pancreatitis in Muscular Cytochrome c Oxidase Deficiency von Kato, Seiichi, Miyabayashi, Shigeaki, Ohi, Ryoji, Nakagawa, Hiroshi, Abe, Jun-ichiro, Yamamoto, Katsuya, Watanabe, Shuichi, Tada, Keiya

Volltext

Nuclear but not mitochondrial genome involvement in human age-related mitochondrial dysfunction. Functional integrity of mitochondrial DNA from aged subjects von HAYASHI, J.-I, OHTA, S, KAGAWA, Y, KONDO, H, KANEDA, H, YONEKAWA, H, TAKAI, D, MIYABAYASHI, S

Volltext

A unique immunofluorescence method promotes accurate diagnosis in MYH9 disorders: a case report von Yoshinari, Miyako, Kunishima, Shinji, Miyabayashi, Shigeaki, Saito, Hidehiko, Tsuchiya, Shigeru

Volltext

Cerebral glucose utilization in pediatric neurological disorders determined by positron emission tomography von Yanai, Kazuhiko, Iinuma, Kazuie, Matsuzawa, Taiju, Ito, Masatoshi, Miyabayashi, Shigeaki, Narisawa, Kuniaki, Ido, Tatsuo, Yamada, Kenji, Tada, Keiya

Volltext

A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome : creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon von SAKAMOTO, Osamu, OHURA, Toshihiro, KATSUSHIMA, Yuriko, FUJIWARA, Ikuma, OGAWA, Eishin, MIYABAYASHI, Shigeaki, IINUMA, Kazuie

Volltext

Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes von HAYASHI, J.-I, OHTA, S, NONAKA, I, KAGAWA, Y, TAKAI, D, MIYABAYASHI, S, TADA, K, FUKUSHIMA, H, INUI, K, OKADA, S, GOTO, Y.-I

Volltext

Adult Leigh syndrome: treatment with intravenous soybean oil for acute central respiratory failure von Kumagai, Rumi, Ichikawa, Keiji, Yasui, Takashi, Kageyama, Yasufumi, Miyabayashi, Shigeaki

Volltext

Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitoc... von Hayashi, J, Ohta, S, Takai, D, Miyabayashi, S, Sakuta, R, Goto, Y, Nonaka, I

Volltext