Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Kazuya Honke"'
Autor:
Mitsuhiro Kato, Rie Tsuburaya, George Imataka, Shuhei Suzuki, Naoko Asahina, Yukiko K. Hayashi, Kazuma Sugie, Ikuya Nonaka, Ichizo Nishino, Yoshihisa Higuchi, Eiji Nakagawa, Hiroshi Sakuma, Masayuki Sasaki, Hirofumi Komaki, Shinji Saitoh, Yoshiaki Saito, Kenji Sugai, Kazuya Honke, Toshiro Nagai
Publikováno v:
Neuromuscular disorders : NMD. 21(8)
Mutations in LMNA cause wide variety of disorders including Emery–Dreifuss muscular dystrophy, limb girdle muscular dystrophy, and congenital muscular dystrophy. We recently found a LMNA mutation in a patient who was previously diagnosed as infanti
Autor:
Nobuhiko Sunohara, Toyokazu Saito, Sari Higuchi, Eishun Nitta, Makiko Nishina, Akihito Suenaga, Shoji Tsuji, Akihiro Matsushima, Masaaki Konagaya, Keiko Tanaka, Kazuya Honke, Ryozo Satake, Masaharu Takamori, Soichi Okino, Tomoya Asaka, Toshiro Yoshimura, Koutaro Endo, Mariko Shinagawa, Takuo Oyake, Hajime Tanaka, Ken Ikeuchi, Eiichiro Uyama, Hiroshi Takada, Reiko Namba, Kiyonobu Komai, Yasuki Takizawa
Publikováno v:
Journal of human genetics. 46(11)
Autosomal recessive distal myopathy or Nonaka distal myopathy (NM) is characterized by its unique distribution of muscular weakness and wasting. The patients present with spared quadriceps muscles even in a late stage of the disease. The hamstring an
Publikováno v:
Pediatrics international : official journal of the Japan Pediatric Society. 41(6)
Autor:
Ritsuko Hayashi, Tohru Yokoi, Yukichi Suzuki, Masakazu Hosoya, Kazuya Honke, Noboru Taniguchi, Takeyori Saheki, Takashi Funabashi
Publikováno v:
The Journal of pediatrics. 99(6)
ORNtTHINE TRANSCARBAMYLASE DEFICIENCY [S an X-linked dominant disorder characterized by hyperammonemia and severe neurologic impairment. Almost all of the affected males in whom hepatic OTC activity is virtually nil have died of overwhelming hyperamm