『徳島大学 教育・研究者情報データベース (EDB)』---[学外] /
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登録内容 (EID=130714)

EID=130714EID:130714, Map:0, LastModified:2018年3月20日(火) 16:40:24, Operator:[三木 ちひろ], Avail:TRUE, Censor:0, Owner:[赤池 雅史], Read:継承, Write:継承, Delete:継承.
種別 (必須): 学術論文 (審査論文) [継承]
言語 (必須): 英語 [継承]
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審査 (推奨):
カテゴリ (推奨):
共著種別 (推奨):
学究種別 (推奨):
組織 (推奨):
著者 (必須): 1. (英) Kuroda Y (日) (読)
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2.三ツ井 貴夫
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3.赤池 雅史 ([徳島大学.大学院医歯薬学研究部.医学域.医科学部門.社会医学系.医療教育学])
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4.東 博之
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5.松本 俊夫
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題名 (必須): (英) Homozygous deletion mutation of the parkin gene in patients with atypical parkinsonism  (日)    [継承]
副題 (任意):
要約 (任意): (英) Autosomal recessive juvenile parkinsonism (AR-JP) is characterised by homogenous clinical features and selective degeneration of nigral neurons. Recent progress in molecular genetic analyses of AR-JP has led to the identification of a novel ubiquitin-like protein, parkin, whose precise function still remains to be elucidated. Two unrelated Japanese families had levodopa unresponsive parkinsonism complicated with cerebellar and pyramidal tract dysfunction. Genetic analysis of the parkin gene and mRNA in both families disclosed identical mutations with large deletions extending from exons 3 to 4. These results suggest that the parkin protein possesses an important function not only in the substantia nigra but also in extranigral neurons of the CNS and that the phenotype of multiple system dysfunction can also be a complication in patients with AR-JP due to variations in sites of or changes in functions by parkin mutation.  (日)    [継承]
キーワード (推奨): 1. (英) AR-JP (日) (読) [継承]
2. (英) parkin (日) (読) [継承]
3. (英) multiple system degeneration (日) (読) [継承]
4. (英) deletion mutation (日) (読) [継承]
発行所 (推奨):
誌名 (必須): Journal of Neurology, Neurosurgery, and Psychiatry (British Medical Association)
(pISSN: 0022-3050, eISSN: 1468-330X)

ISSN (任意): 0022-3050
ISSN: 0022-3050 (pISSN: 0022-3050, eISSN: 1468-330X)
Title: Journal of neurology, neurosurgery, and psychiatry
Title(ISO): J Neurol Neurosurg Psychiatry
Publisher: BMJ Group
 (NLM Catalog  (Scopus  (CrossRef (Scopus information is found. [need login])
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(必須): 231 234 [継承]
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年月日 (必須): 西暦 2001年 8月 初日 (平成 13年 8月 初日) [継承]
URL (任意):
DOI (任意): 10.1136/jnnp.71.2.231    (→Scopusで検索) [継承]
PMID (任意): 11459900    (→Scopusで検索) [継承]
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備考 (任意): 1.(英) Article.PublicationTypeList.PublicationType: Journal Article  (日)    [継承]
2.(英) OtherID: PMC1737499  (日)    [継承]

標準的な表示

和文冊子 ● Y Kuroda, Takao Mitsui, Masashi Akaike, Hiroyuki Azuma and Toshio Matsumoto : Homozygous deletion mutation of the parkin gene in patients with atypical parkinsonism, Journal of Neurology, Neurosurgery, and Psychiatry, Vol.71, No.2, 231-234, 2001.
欧文冊子 ● Y Kuroda, Takao Mitsui, Masashi Akaike, Hiroyuki Azuma and Toshio Matsumoto : Homozygous deletion mutation of the parkin gene in patients with atypical parkinsonism, Journal of Neurology, Neurosurgery, and Psychiatry, Vol.71, No.2, 231-234, 2001.

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