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pro vyhledávání: '"Y, Sawaishi"'
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Autor:
H Saito, I Takahashi, Masaki Komatsu, Tsutomu Takahashi, Y Sawaishi, Goro Takada, K Higashi, G Nishimura
Publikováno v:
Clinical Genetics. 60:447-451
Proximal symphalangism is an autosomal-dominant disorder with ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. These symptoms are shared by another disorder of joint morphogenesis, multiple syn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::26dc8106ca4f37752cb7160179dfa012
https://doi.org/10.1034/j.1399-0004.2001.600607.x
https://doi.org/10.1034/j.1399-0004.2001.600607.x
Autor:
Albee Messing, K. Brockman, J. R. Gorospe, Raphael Schiffmann, Elliott H. Sherr, D. Fain, J. Ferreira, Thomas R. Hartka, J. Fleming, Roger L. Albin, A. Reddy, M.T. Dotti, K. Wakabayashi, D. Gill, Adeline Vanderver, Y. Sawaishi, M. Nakagawa, Jichuan Wang, Erynn Gordon, D. Lewis, Heather Gordish-Dressman, Hiroki Morizono, Y. Takiyama, Michael Brenner, M. Schneider, Morgan Prust, H. Amartino, R. Fernandez, Paige Kaplan, M. Griebel, H. Heilstedt, R. C. Pedersen, A. Dinopoulos, A. Sokohl
Publikováno v:
Prust, M; Wang, J; Morizono, H; Messing, A; Brenner, M; Gordon, E; et al.(2011). GFAP mutations, age at onset, and clinical subtypes in Alexander disease. NEUROLOGY, 77(13), 1287-1294. doi: 10.1212/WNL.0b013e3182309f72. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/4sz3t27q
Objective: To characterize Alexander disease (AxD) phenotypes and determine correlations with age at onset (AAO) and genetic mutation. AxD is an astrogliopathy usually characterized on MRI by leukodystrophy and caused by glial fibrillary acidic prote
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c38d411e8275355e7bd596c7a274ae9
http://www.escholarship.org/uc/item/4sz3t27q
http://www.escholarship.org/uc/item/4sz3t27q
Autor:
Hitoshi Osaka, T. Hoshida, Yukitoshi Takahashi, S. Takahashi, T. Yano, A. Muto, A. Miyamoto, S. Nakasu, Makiko Osawa, Noriyuki Akasaka, Hirokazu Oguni, Y. Shirasaka, Y. Sawaishi
Publikováno v:
Neuropediatrics. 37
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::79e3c707c57a01f4984039b9a3c813ae
https://doi.org/10.1055/s-2006-945944
https://doi.org/10.1055/s-2006-945944
Publikováno v:
No to hattatsu = Brain and development. 34(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e649ce9492cc7d40065fcbac4ddd5603
https://pubmed.ncbi.nlm.nih.gov/12030019
https://pubmed.ncbi.nlm.nih.gov/12030019
Autor:
T, Takahashi, I, Takahashi, M, Komatsu, Y, Sawaishi, K, Higashi, G, Nishimura, H, Saito, G, Takada
Publikováno v:
Clinical genetics. 60(6)
Proximal symphalangism is an autosomal-dominant disorder with ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. These symptoms are shared by another disorder of joint morphogenesis, multiple syn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1218bbaaf06787e0d914c39ce2ce933b
https://pubmed.ncbi.nlm.nih.gov/11846737
https://pubmed.ncbi.nlm.nih.gov/11846737
Publikováno v:
No to hattatsu = Brain and development. 33(6)
We report a 14-year-old girl with carbamazepine intoxication who developed alpha coma and status epilepticus. She fell into deep coma and developed frequent generalized convulsions. The EEG during coma showed diffuse alpha activity predominantly in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e2ae88bb33065538bd1d4902656ec236
https://pubmed.ncbi.nlm.nih.gov/11725522
https://pubmed.ncbi.nlm.nih.gov/11725522
Publikováno v:
Radiation medicine. 17(5)
We report here a rare case of moyamoya-like vessels combined with brain anomaly. MR imaging revealed a small corpus callosum and stenosis of the internal carotid arteries. T2-weighted images revealed multiple hyperintense lesions in the cerebral deep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::70a88dbf5f63f056ca9d1f1cd78d3ce0
https://pubmed.ncbi.nlm.nih.gov/10593290
https://pubmed.ncbi.nlm.nih.gov/10593290
Publikováno v:
Annals of neurology. 45(1)
We report a childhood case of severe acute cerebellitis caused by Coxiella burnetii. After 10 days of fever and headache, the patient fell into a drowsy state. Examination of the cerebrospinal fluid (CSF) revealed pleocytosis, an increased level of p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::94d5b5e75d215bb5ea0ef49558dc7f6c
https://pubmed.ncbi.nlm.nih.gov/9894886
https://pubmed.ncbi.nlm.nih.gov/9894886
Autor:
T. Shimizu, Y. Sawaishi, Takashi Kanbayashi, T. Miyachi, G. Szilagyi, S. Fujimoto, T. Takahashi, M. Abe, T. Yano, J. Arii
Publikováno v:
Neuropediatrics. 34:52-53
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a858067875701113ee96724d7118a88
https://doi.org/10.1055/s-2003-38619
https://doi.org/10.1055/s-2003-38619