Výsledky vyhledávání - "Setsuko, Kashiwagi"

[A clinicopathological investigation of two autopsy cases of calpainopathy (LGMD2A)]

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

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Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families

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

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Plasma Levels of Brain Natriuretic Peptide as an Index for Evaluation of Cardiac Function in Female Gene Carriers of Duchenne Muscular Dystrophy

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

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Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency

Autor: Tomohiko Inui, Shiro Okuno, Setsuko Kashiwagi, Takenori Endo, Masashi Akaike, S Shin, Hisaomi Kawai, Katsuhito Adachi, Takao Mitsui, T Fujiwara

Publikováno v: The Journal of clinical investigation. 96(3)

Homozygous adhalin gene mutations were found in three patients from two consanguineous families with autosomal recessive childhood onset muscular dystrophy. Muscle biopsies from patients in each family showed complete absence of adhalin. Sequencing o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4271854412fc6243cacf8b6016539b6c
https://pubmed.ncbi.nlm.nih.gov/7657792

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Lysosomal enzyme activities in skeletal muscle of patients with neuromuscular diseases

Autor: Shiro Saito, Kenji Yoneda, Hisaomi Kawai, Setsuko Kashiwagi, Yoshihiko Nishida, Takako Naruo, Makoto Kunishige

Publikováno v: Musclenerve. 18(9)

Activities of nine lysosomal enzymes and pH-dependent isozyme patterns of α-mannosidase were examined in the skeletal muscle of patients with neuromuscular diseases, and the ratios of these enzyme activities in leukocytes to those in myocytes (UM ra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9108e1bc4de23ee6eb3754a564434cd
https://pubmed.ncbi.nlm.nih.gov/7643862

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HTLV-I infection in patients with autoimmune thyroiditis (Hashimoto's thyroiditis)

Autor: Setsuko Kashiwagi, Shiro Saito, Masaru Iwasa, Kenjiro Masuda, Hisaomi Kawai, Tomohiko Inui, Akira Kondo, S. Niki, Takayuki Tsuchihashi

Publikováno v: Journal of medical virology. 38(2)

To investigate the possible relationship of HTLV-I virus infection to autoimmune thyroid disease, we examined, firstly, the frequency of HTLV-I seropositivity among patients with Hashimoto's thyroiditis and, secondly, the frequency of Hashimoto's thy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f71348d0535f3e85393e5ac7344f4c5c
https://pubmed.ncbi.nlm.nih.gov/1460458

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