Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype

door Yamada, Kenichiro, Takado, Yuhei, Kato, Yusuke S., Yamada, Yasukazu, Ishiguro, Hideaki, Wakamatsu, Nobuaki
Gepubliceerd in 2013

High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice

door Suzuki, Kaoru, Yamada, Kenichiro, Fukuhara, Yayoi, Tsuji, Ai, Shibata, Katsumi, Wakamatsu, Nobuaki
Gepubliceerd in PLoS One (2017)

Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report

door Nosaki, Yasunobu, Ohyama, Ken, Watanabe, Maki, Yokoi, Takamasa, Kobayashi, Yosuke, Inaba, Mie, Wakamatsu, Nobuaki, Iwai, Katsushige
Gepubliceerd in Epilepsy Behav Rep (2020)

The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS)

door Suzuki, Yasuyo, Enokido, Yasushi, Yamada, Kenichiro, Inaba, Mie, Kuwata, Kumiko, Hanada, Naoki, Morishita, Tsuyoshi, Mizuno, Seiji, Wakamatsu, Nobuaki
Gepubliceerd in Oncotarget (2017)

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations

door Yamada, Kenichiro, Miura, Kiyokuni, Hara, Kenju, Suzuki, Motomasa, Nakanishi, Keiko, Kumagai, Toshiyuki, Ishihara, Naoko, Yamada, Yasukazu, Kuwano, Ryozo, Tsuji, Shoji, Wakamatsu, Nobuaki
Gepubliceerd in 2010

Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis

door Yamada, Kenichiro, Naiki, Misako, Hoshino, Shin, Kitaura, Yasuyuki, Kondo, Yusuke, Nomura, Noriko, Kimura, Reiko, Fukushi, Daisuke, Yamada, Yasukazu, Shimozawa, Nobuyuki, Yamaguchi, Seiji, Shimomura, Yoshiharu, Miura, Kiyokuni, Wakamatsu, Nobuaki
Gepubliceerd in Mol Genet Metab Rep (2014)

Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome

door Teraishi, Mika, Takaishi, Mikiro, Nakajima, Kimiko, Ikeda, Mitsunori, Higashi, Yujiro, Shimoda, Shinji, Asada, Yoshinobu, Hijikata, Atsushi, Ohara, Osamu, Hiraki, Yoko, Mizuno, Seiji, Fukada, Toshiyuki, Furukawa, Takahisa, Wakamatsu, Nobuaki, Sano, Shigetoshi
Gepubliceerd in Sci Rep (2017)

Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features

door Yamada, Kenichiro, Yamada, Yasukazu, Nomura, Noriko, Miura, Kiyokuni, Wakako, Rie, Hayakawa, Chiemi, Matsumoto, Akiko, Kumagai, Toshiyuki, Yoshimura, Ikuko, Miyazaki, Shuji, Kato, Kanefusa, Sonta, Shin-ichi, Ono, Hiroshi, Yamanaka, Tsutomu, Nagaya, Masahiro, Wakamatsu, Nobuaki
Gepubliceerd in 2001

Isozyme-Specific Role of SAD-A in Neuronal Migration During Development of Cerebral Cortex

door Nakanishi, Keiko, Niida, Hiroyuki, Tabata, Hidenori, Ito, Tsuyoshi, Hori, Yuki, Hattori, Madoka, Johmura, Yoshikazu, Yamada, Chisato, Ueda, Takashi, Takeuchi, Kosei, Yamada, Kenichiro, Nagata, Koh-ichi, Wakamatsu, Nobuaki, Kishi, Masashi, Pan, Y Albert, Ugawa, Shinya, Shimada, Shoichi, Sanes, Joshua R, Higashi, Yujiro, Nakanishi, Makoto
Gepubliceerd in Cereb Cortex (2019)

Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

door Lyle, Robert, Béna, Frédérique, Gagos, Sarantis, Gehrig, Corinne, Lopez, Gipsy, Schinzel, Albert, Lespinasse, James, Bottani, Armand, Dahoun, Sophie, Taine, Laurence, Doco-Fenzy, Martine, Cornillet-Lefèbvre, Pascale, Pelet, Anna, Lyonnet, Stanislas, Toutain, Annick, Colleaux, Laurence, Horst, Jürgen, Kennerknecht, Ingo, Wakamatsu, Nobuaki, Descartes, Maria, Franklin, Judy C, Florentin-Arar, Lina, Kitsiou, Sophia, Aït Yahya-Graison, Emilie, Costantine, Maher, Sinet, Pierre-Marie, Delabar, Jean M, Antonarakis, Stylianos E
Gepubliceerd in 2009