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Another phenotype of frontotemporal dementia and parkinsonism linked to chromosome-17 (FTDP-17) with a missense mutation of S305N closely resembling Pick's disease.

作者信息

Kobayashi Katsuji, Kidani Tomokazu, Ujike Hiroshi, Hayashi Masahiro, Ishihara Takeshi, Miyazu Kenji, Kuroda Shigetoshi, Koshino Yoshifumi

出版信息

J Neurol. 2003 Aug;250(8):990-2. doi: 10.1007/s00415-003-1137-6.

DOI:10.1007/s00415-003-1137-6
PMID:12928922
Abstract
摘要

相似文献

1
Another phenotype of frontotemporal dementia and parkinsonism linked to chromosome-17 (FTDP-17) with a missense mutation of S305N closely resembling Pick's disease.
J Neurol. 2003 Aug;250(8):990-2. doi: 10.1007/s00415-003-1137-6.
2
Pick's disease pathology of a missense mutation of S305N of frontotemporal dementia and parkinsonism linked to chromosome 17: another phenotype of S305N.
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3
[Characteristic clinicopathological and genetic features of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17): in particular consideration for a large family of pallido-ponto-nigral degeneration (PPND)].
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Pick's complex and FTDP-17.皮克复合体与额颞叶痴呆伴帕金森综合征-17型
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Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation.与17号染色体相关的额颞叶痴呆和帕金森综合征(与S305N tau突变相关)的两名兄弟姐妹的纵向特征分析。
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6
Hereditary Pick's disease with the G272V tau mutation shows predominant three-repeat tau pathology.携带G272V tau突变的遗传性匹克病表现出主要的三重复tau病理特征。
Brain. 2005 Nov;128(Pt 11):2645-53. doi: 10.1093/brain/awh591. Epub 2005 Jul 13.
7
[Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)].与17号染色体相关的额颞叶痴呆和帕金森综合征(FTDP - 17)
No To Shinkei. 2000 Feb;52(2):127-32.
8
Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17.两名表型不同的与17号染色体连锁的额颞叶痴呆和帕金森综合征P301L突变患者tau基因的对比基因型。
J Neurol. 2002 Jun;249(6):669-75. doi: 10.1007/s00415-002-0687-3.
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Frontotemporal dementia and Parkinsonism linked to chromosome 17 in a young Australian patient with the G389R Tau mutation.一名患有G389R Tau突变的年轻澳大利亚患者中,额颞叶痴呆和帕金森综合征与17号染色体相关。
Neuropathol Appl Neurobiol. 2008 Jun;34(3):366-70. doi: 10.1111/j.1365-2990.2007.00918.x. Epub 2007 Dec 7.
10
Pick's disease is associated with mutations in the tau gene.匹克氏病与tau基因的突变有关。
Ann Neurol. 2000 Dec;48(6):859-67.

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In vivo hyperphosphorylation of tau is associated with synaptic loss and behavioral abnormalities in the absence of tau seeds.在没有tau蛋白种子的情况下,tau蛋白的体内过度磷酸化与突触丧失和行为异常有关。
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Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging.特邀综述:微管相关蛋白tau基因(MAPT)突变所致额颞叶痴呆:神经病理学和神经影像学的变色龙
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