Screening of SLC25A13 mutation in the Thai population

Por Wongkittichote, Parith, Sukasem, Chonlaphat, Kikuchi, Atsuo, Aekplakorn, Wichai, Jensen, Laran T, Kure, Shigeo, Wattanasirichaigoon, Duangrurdee
Publicado em 2013

Phenytoin-responsive epileptic encephalopathy with a tandem duplication involving FGF12

Por Shi, Rui-Ming, Kobayashi, Tomoko, Kikuchi, Atsuo, Sato, Ryo, Uematsu, Mitsugu, An, Kumiko, Kure, Shigeo
Publicado no Neurol Genet (2017)

A follow-up during puberty in a Japanese girl with type A insulin resistance due to a novel mutation in INSR

Por Saito-Hakoda, Akiko, Nishii, Aki, Uchida, Takashi, Kikuchi, Atsuo, Kanno, Junko, Fujiwara, Ikuma, Kure, Shigeo
Publicado no Clin Pediatr Endocrinol (2018)

Genomic analysis identifies masqueraders of full‐term cerebral palsy

Por Takezawa, Yusuke, Kikuchi, Atsuo, Haginoya, Kazuhiro, Niihori, Tetsuya, Numata‐Uematsu, Yurika, Inui, Takehiko, Yamamura‐Suzuki, Saeko, Miyabayashi, Takuya, Anzai, Mai, Suzuki‐Muromoto, Sato, Okubo, Yukimune, Endo, Wakaba, Togashi, Noriko, Kobayashi, Yasuko, Onuma, Akira, Funayama, Ryo, Shirota, Matsuyuki, Nakayama, Keiko, Aoki, Yoko, Kure, Shigeo
Publicado no Ann Clin Transl Neurol (2018)

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

Por Narisawa, Ayumi, Komatsuzaki, Shoko, Kikuchi, Atsuo, Niihori, Tetsuya, Aoki, Yoko, Fujiwara, Kazuko, Tanemura, Mitsuyo, Hata, Akira, Suzuki, Yoichi, Relton, Caroline L., Grinham, James, Leung, Kit-Yi, Partridge, Darren, Robinson, Alexis, Stone, Victoria, Gustavsson, Peter, Stanier, Philip, Copp, Andrew J., Greene, Nicholas D.E., Tominaga, Teiji, Matsubara, Yoichi, Kure, Shigeo
Publicado em 2012

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

Por Ashraf, Shazia, Kudo, Hiroki, Rao, Jia, Kikuchi, Atsuo, Widmeier, Eugen, Lawson, Jennifer A., Tan, Weizhen, Hermle, Tobias, Warejko, Jillian K., Shril, Shirlee, Airik, Merlin, Jobst-Schwan, Tilman, Lovric, Svjetlana, Braun, Daniela A., Gee, Heon Yung, Schapiro, David, Majmundar, Amar J., Sadowski, Carolin E., Pabst, Werner L., Daga, Ankana, van der Ven, Amelie T., Schmidt, Johanna M., Low, Boon Chuan, Gupta, Anjali Bansal, Tripathi, Brajendra K., Wong, Jenny, Campbell, Kirk, Metcalfe, Kay, Schanze, Denny, Niihori, Tetsuya, Kaito, Hiroshi, Nozu, Kandai, Tsukaguchi, Hiroyasu, Tanaka, Ryojiro, Hamahira, Kiyoshi, Kobayashi, Yasuko, Takizawa, Takumi, Funayama, Ryo, Nakayama, Keiko, Aoki, Yoko, Kumagai, Naonori, Iijima, Kazumoto, Fehrenbach, Henry, Kari, Jameela A., El Desoky, Sherif, Jalalah, Sawsan, Bogdanovic, Radovan, Stajić, Nataša, Zappel, Hildegard, Rakhmetova, Assel, Wassmer, Sharon-Rose, Jungraithmayr, Therese, Strehlau, Juergen, Kumar, Aravind Selvin, Bagga, Arvind, Soliman, Neveen A., Mane, Shrikant M., Kaufman, Lewis, Lowy, Douglas R., Jairajpuri, Mohamad A., Lifton, Richard P., Pei, York, Zenker, Martin, Kure, Shigeo, Hildebrandt, Friedhelm
Publicado no Nat Commun (2018)