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J-GLOBAL ID：201402212881343257   Reference number：14A0713326

Autopsy case of concurrent Huntington’s disease and neurofibromatosis type 1

同時に発症したHuntington病と神経線維腫症タイプ1の剖検症例

Author (11)： KAWAKAMI Ito (Yokohama City Univ. School of Medicine, Yokohama) ,  KATSUSE Omi (Yokohama City Univ. School of Medicine, Yokohama) ,  AOKI Naoya (Yokohama City Univ. School of Medicine, Yokohama) ,  TOGO Takashi (Yokohama City Univ. School of Medicine, Yokohama) ,  SUZUKI Kyoko (Yokohama City Univ. School of Medicine, Yokohama) ,  ISOJIMA Daisuke (Yokohama City Univ. School of Medicine, Yokohama) ,  KONDO Daizo (Yokohama City Univ. School of Medicine, Yokohama) ,  ISEKI Eizo (Juntendo Univ. School of Medicine, Tokyo, JPN) ,  KOSAKA Kenji (Yokohama City Univ. School of Medicine, Yokohama) ,  AKIYAMA Haruhiko (Tokyo Metropolitan Inst. Medical Sci., Tokyo) ,  HIRAYASU Yoshio (Yokohama City Univ. School of Medicine, Yokohama)
Material： Psychogeriatrics
Volume： 14  Issue： 1  Page： 81-86  Publication year： Mar. 2014 
JST Material Number： W1418A  ISSN： 1346-3500  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： *Huntington's disease ,...
Semi thesaurus term： *genetic variation ,...

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JST classification (3)： Chemistry,biochemistry and pathology of tumors(=neoplasms)  (GE02030N) ,  Tumors(=neoplasms)of nervous system  (GN04000V) ,  Molecular genetics in general  (EC02010J)

Substance index (3)： Cytosine ,  Adenosine ,  Guanine

Reference (23)：

• Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993; 72: 971-983.
• Basu TN, Gutmann DH, Fletcher JA et al. Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature 1992; 356: 713-715.
• Arun D, Gutmann DH. Recent advances in neurofibromatosis type 1. Curr Opin Neurol 2004; 17: 101-105.
• Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol 2007; 6: 340-351.
• Créange A, Zeller J, Rostaing-Rigattieri S et al. Neurological complications of neurofibromatosis type 1 in adulthood. Brain 1999; 122: 473-481.

Terms in the title (6)： 発症 ,  Huntington病 ,  神経線維腫症 ,  タイプ ,  剖検 ,  症例