Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Hisaomi, Kawai"'
Autor:
Madoka Mori-Yoshimura, Setsuko Kashiwagi, Miho Saito, Tuyoshi Matsumura, Tatsushi Miyazaki, Hirotsugu Yamada, Masashi Akaike, En Kimura, Michio Kobayashi, Takashi Iwase, Shoichiro Takao, Katsuhito Adachi, Masatoshi Ishizaki, Shuji Hashiguchi, Hisaomi Kawai
Publikováno v:
Journal of the neurological sciences. 386
Regular health checkups for mothers of patients with Duchenne muscular dystrophy have been performed at National Hospital Organization Tokushima Hospital since 1994. Among 43 mothers participated in this study, 28 dystrophinopathy carriers were ident
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3005b04378c8599a69009d2ad427c5b7
https://pubmed.ncbi.nlm.nih.gov/29627002
https://pubmed.ncbi.nlm.nih.gov/29627002
Autor:
Tsuyoshi Matsumura, Miho Saito, Hirotsugu Yamada, Madoka Mori-Yoshimura, Setsuko Kashiwagi, Michio Kobayashi, Masashi Akaike, Shoichiro Takao, Katsuhito Adachi, Takashi Iwase, Masatoshi Ishizaki, En Kimura, T. Miyazaki, Shuji Hashiguchi, Hisaomi Kawai
Publikováno v:
Journal of the Neurological Sciences. 381:264-265
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ae34aac15928c02debd8810faf18bad6
https://doi.org/10.1016/j.jns.2017.08.754
https://doi.org/10.1016/j.jns.2017.08.754
Autor:
Shuji, Hashiguchi, Katsuhito, Adachi, Toshio, Inui, Yoshiharu, Arii, Setsuko, Kashiwagi, Miho, Saito, Noriko, Kagawa, Hisaomi, Kawai
Publikováno v:
Brain and nerve = Shinkei kenkyu no shinpo. 66(9)
In this study, we compared the clinicopathological findings of two autopsy cases of patients with calpainopathy (LGMD2A) from different families. The patient in case 1 was a 72-year-old man with a history of type 2 diabetes mellitus. He exhibited rec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d0660c347730ceacc823bc924aa88634
https://pubmed.ncbi.nlm.nih.gov/25200581
https://pubmed.ncbi.nlm.nih.gov/25200581
Autor:
Toshio Matsumoto, Yoshihiko Nishida, Hiroshi Nishino, Katsuhito Adachi, Shiro Okuno, Masashi Akaike, Isabelle Richard, Makoto Kunishige, Tsutomu Fujiwara, Toshio Inui, Setsuko Kashiwagi, Chiyomi Kimura, Kazuo Miyoshi, Carinne Roudaut, Hisaomi Kawai, Jacques S. Beckmann, Itsuro Endo, Masakazu Kawajiri
Publikováno v:
Muscle & Nerve. 21:1493-1501
We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) from three Japanese families. The mean age of onset was 9.7+/-3.1 years (mean+/-SD), and loss of ambulance occurred at 38
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af2b27bae3791513d2051ba039f0c0b6
https://doi.org/10.1002/(sici)1097-4598(199811)21:11<1493::aid-mus19>3.0.co
https://doi.org/10.1002/(sici)1097-4598(199811)21:11<1493::aid-mus19>3.0.co
Publikováno v:
The American Journal of Human Genetics. 63:1015-1024
alpha-Mannosidosis is an autosomal recessive lysosomal-storage disorder caused by a deficiency of lysosomal alpha-mannosidase activity. This disease shows a wide range of clinical phenotypes, from a severe, infantile form (type I), which is fatal at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dd1d72a19dab605fb3fdf910508cc3b
https://doi.org/10.1086/302048
https://doi.org/10.1086/302048
Autor:
Masanori Nakagawa, Makoto Kunishige, Hiroyuki Iwaki, Mitsuhiro Osame, Itsuro Higuchi, Hisaomi Kawai, Takenori Endo, Hidetoshi Fukunaga, Kimiyoshi Arimura
Publikováno v:
Journal of the Neurological Sciences. 153:100-105
A new homozygous alpha-sarcoglycan (adhalin) gene mutation was found in a Japanese patient with severe childhood autosomal recessive muscular dystrophy (SCARMD). Muscle biopsy specimens from the patient showed marked reduction but not complete defici
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e422cbee09dd9edacab88218e030ecc
https://doi.org/10.1016/s0022-510x(97)00182-2
https://doi.org/10.1016/s0022-510x(97)00182-2
Autor:
Makoto Kunishige, Hiroyuki Azuma, Kenjiro Masuda, Toshio Shigekiyo, Yoshiharu Arii, Hisaomi Kawai, Shiro Saito
Publikováno v:
Angiology. 48:273-277
The authors present a sixteen-year-old girl with blue rubber bleb nevus syndrome (BRBNS) associated with disseminated hemangiomas involving the skin, oral cavity, skeletal muscle, and cerebrum. Although she denied neurologic symptoms, magnetic resona
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2152e0ede6e35ef3d8f826f40f35005e
https://doi.org/10.1177/000331979704800312
https://doi.org/10.1177/000331979704800312
Autor:
Hideki Mine, Hisaomi Kawai, Setsuko Kashiwagi, Miho Saito, Masashi Akaike, Toshio Inui, Katsuhito Adachi, Chiyomi Kimura, Takako Naruo
Publikováno v:
Internal Medicine. 36:497-500
The level of plasma brain natriuretic peptide (BNP) was elevated in 8 of 15 female gene carriers of Duchenne muscular dystrophy (DMD), and the level correlated with indices of cardiac function. In one of these carriers, whose clinical course was foll
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::753a477f35ba99480cb7c1f988748a74
https://doi.org/10.2169/internalmedicine.36.497
https://doi.org/10.2169/internalmedicine.36.497
Autor:
Makoto Kunishige, Hisaomi Kawai, Masayuki Shono, Masakazu Kawajiri, Shiro Saito, Takao Mitsui
Publikováno v:
Journal of Neuropathology and Experimental Neurology. 56:94-101
The intracellular localization of dystrophin and beta-dystroglycan mRNA in skeletal muscles of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) and normal subjects was examined by in situ hybridization using biotinyl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::549f593b1072528aa4345bff45c8baa9
https://doi.org/10.1097/00005072-199701000-00010
https://doi.org/10.1097/00005072-199701000-00010
Publikováno v:
American Heart Journal. 132:642-647
Cardiac function was examined in 21 patients with Becker muscular dystrophy (BMD) and compared with 43 patients with Duchenne muscular dystrophy (DMD) and 37 healthy control subjects. Electrocardiography showed myocardial damage was most frequently f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3da8d0c6f06320ec573457c234f78072
https://doi.org/10.1016/s0002-8703(96)90250-1
https://doi.org/10.1016/s0002-8703(96)90250-1