Absence of pathogenic mutations in presenilin homologue 2 in a conclusively 17-linked tau-negative dementia family.

Suppr

超能文献

作者信息

Rademakers R, Van den Broeck M, Sleegers K, van Duijn C, Van Broeckhoven C, Cruts M

出版信息

Neurogenetics. 2004 Feb;5(1):79-80. doi: 10.1007/s10048-003-0162-z. Epub 2003 Oct 8.

DOI:10.1007/s10048-003-0162-z

PMID:14534840

Abstract

摘要

相似文献

Absence of pathogenic mutations in presenilin homologue 2 in a conclusively 17-linked tau-negative dementia family.

Neurogenetics. 2004 Feb;5(1):79-80. doi: 10.1007/s10048-003-0162-z. Epub 2003 Oct 8.

Commentary.评论

Neurobiol Aging. 2001 Jan-Feb;22(1):119-21. doi: 10.1016/s0197-4580(00)00198-6.

Atypical dementia associated with a novel presenilin-2 mutation.与一种新型早老素-2突变相关的非典型痴呆

Ann Neurol. 2003 Dec;54(6):832-6. doi: 10.1002/ana.10760.

Tau mutations in familial frontotemporal dementia.

Brain. 2000 May;123 ( Pt 5):857-9. doi: 10.1093/brain/123.5.857.

A novel mutation at position +11 in the intron following exon 10 of the tau gene in FTDP-17.额颞叶痴呆伴帕金森综合征17型（FTDP-17）中，tau基因第10外显子下游内含子第+11位的一个新突变。

J Appl Genet. 2002;43(4):535-43.

The effect of tau genotype on clinical features in FTDP-17.tau基因分型对额颞叶痴呆伴帕金森综合征17型临床特征的影响。

Parkinsonism Relat Disord. 2005 Jun;11(4):205-8. doi: 10.1016/j.parkreldis.2005.01.003.

Presenilin mutations associated with fronto-temporal dementia.

Ann Neurol. 2004 May;55(5):604-6. doi: 10.1002/ana.20103.

Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval.位于17q21的tau蛋白阴性额颞叶痴呆：将候选区域精细定位至4.8厘摩区间

Mol Psychiatry. 2002;7(10):1064-74. doi: 10.1038/sj.mp.4001198.

Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies.家族性和散发性额颞叶痴呆及其他tau蛋白病中tau基因突变的频率。

J Neurol. 2004 Sep;251(9):1098-104. doi: 10.1007/s00415-004-0489-x.

Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation.伴有新型tau病理改变和Glu342Val tau突变的额颞叶痴呆

Ann Neurol. 2000 Dec;48(6):850-8.

本文引用的文献

Mol Psychiatry. 2002;7(10):1064-74. doi: 10.1038/sj.mp.4001198.

Identification of a novel family of presenilin homologues.一种新型早老素同源物家族的鉴定。

Hum Mol Genet. 2002 May 1;11(9):1037-44. doi: 10.1093/hmg/11.9.1037.

Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22.伴有泛素阳性包涵体的家族性额颞叶痴呆与17号染色体q21 - 22区域相关。

Brain. 2001 Oct;124(Pt 10):1948-57. doi: 10.1093/brain/124.10.1948.

Association of an extended haplotype in the tau gene with progressive supranuclear palsy.tau基因中一种扩展单倍型与进行性核上性麻痹的关联。

Hum Mol Genet. 1999 Apr;8(4):711-5. doi: 10.1093/hmg/8.4.711.

Hereditary dysphasic disinhibition dementia: a frontotemporal dementia linked to 17q21-22.遗传性言语困难性脱抑制性痴呆：一种与17q21 - 22相关的额颞叶痴呆。

Neurology. 1998 Jun;50(6):1546-55. doi: 10.1212/wnl.50.6.1546.

Presenilin mutations in Alzheimer's disease.阿尔茨海默病中的早老素突变

Hum Mutat. 1998;11(3):183-90. doi: 10.1002/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J.

A population-based study of familial Alzheimer disease: linkage to chromosomes 14, 19, and 21.一项基于人群的家族性阿尔茨海默病研究：与14号、19号和21号染色体的连锁关系。

Am J Hum Genet. 1994 Oct;55(4):714-27.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验