Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

Por Okubo, Mariko, Minami, Narihiro, Goto, Kanako, Goto, Yuichi, Noguchi, Satoru, Mitsuhashi, Satomi, Nishino, Ichizo
Publicado no J Hum Genet (2016)

Chromosome 4q;10q translocations; Comparison with different ethnic populations and FSHD patients

Por Matsumura, Tsuyoshi, Goto, Kanako, Yamanaka, Gaku, Lee, Je Hyeon, Zhang, Cheng, Hayashi, Yukiko K, Arahata, Kiichi
Publicado em 2002

Association between a C8orf13–BLK Polymorphism and Polymyositis/Dermatomyositis in the Japanese Population: An Additive Effect with STAT4 on Disease Susceptibility

Por Sugiura, Tomoko, Kawaguchi, Yasushi, Goto, Kanako, Hayashi, Yukiko, Gono, Takahisa, Furuya, Takefumi, Nishino, Ichizo, Yamanaka, Hisashi
Publicado em 2014

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

Por Okubo, Mariko, Goto, Kanako, Komaki, Hirofumi, Nakamura, Harumasa, Mori-Yoshimura, Madoka, Hayashi, Yukiko K., Mitsuhashi, Satomi, Noguchi, Satoru, Kimura, En, Nishino, Ichizo
Publicado no Orphanet J Rare Dis (2017)

Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)

Por Nakamura, Harumasa, Kimura, En, Mori-Yoshimura, Madoka, Komaki, Hirofumi, Matsuda, Yu, Goto, Kanako, Hayashi, Yukiko K, Nishino, Ichizo, Takeda, Shin‘ichi, Kawai, Mitsuru
Publicado em 2013

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

Por Hayashi, Yukiko K., Matsuda, Chie, Ogawa, Megumu, Goto, Kanako, Tominaga, Kayo, Mitsuhashi, Satomi, Park, Young-Eun, Nonaka, Ikuya, Hino-Fukuyo, Naomi, Haginoya, Kazuhiro, Sugano, Hisashi, Nishino, Ichizo
Publicado em 2009

A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

Por Mitsuhashi, Satomi, Ohkuma, Aya, Talim, Beril, Karahashi, Minako, Koumura, Tomoko, Aoyama, Chieko, Kurihara, Mana, Quinlivan, Ros, Sewry, Caroline, Mitsuhashi, Hiroaki, Goto, Kanako, Koksal, Burcu, Kale, Gulsev, Ikeda, Kazutaka, Taguchi, Ryo, Noguchi, Satoru, Hayashi, Yukiko K., Nonaka, Ikuya, Sher, Roger B., Sugimoto, Hiroyuki, Nakagawa, Yasuhito, Cox, Gregory A., Topaloglu, Haluk, Nishino, Ichizo
Publicado em 2011