Suppr超能文献

Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation.

作者信息

Anheim M, Hannequin D, Boulay C, Martin C, Campion D, Tranchant C

出版信息

J Neurol Neurosurg Psychiatry. 2007 Dec;78(12):1414-5. doi: 10.1136/jnnp.2007.123026.

Abstract
摘要

相似文献

1
Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation.
J Neurol Neurosurg Psychiatry. 2007 Dec;78(12):1414-5. doi: 10.1136/jnnp.2007.123026.
2
No association of spastic paraparesis genes in PSEN1 Alzheimer's disease with spastic paraparesis.
Neuroreport. 2007 Aug 6;18(12):1267-9. doi: 10.1097/WNR.0b013e3282405209.
4
Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p.A58V.
J Neurol Sci. 2013 Mar 15;326(1-2):75-82. doi: 10.1016/j.jns.2013.01.017. Epub 2013 Feb 13.
6
Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life.
Neurosci Lett. 2008 Jun 20;438(2):257-9. doi: 10.1016/j.neulet.2008.04.029. Epub 2008 Apr 15.
10
A novel PSEN1 H163P mutation in a patient with early-onset Alzheimer's disease: clinical, neuroimaging, and neuropathological findings.
Neurosci Lett. 2012 Nov 21;530(2):109-14. doi: 10.1016/j.neulet.2012.09.040. Epub 2012 Oct 6.

引用本文的文献

2
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Int J Mol Sci. 2022 Sep 19;23(18):10970. doi: 10.3390/ijms231810970.
3
Genetics of dementia: insights from Latin America.
Dement Neuropsychol. 2020 Jul-Sep;14(3):223-236. doi: 10.1590/1980-57642020dn14-030004.
5
Difficult case of a rare form of familial Alzheimer's disease with PSEN1 P117L mutation.
BMJ Case Rep. 2018 Dec 13;11(1):e226664. doi: 10.1136/bcr-2018-226664.
6
p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.
Int J Mol Sci. 2018 Sep 2;19(9):2604. doi: 10.3390/ijms19092604.
7
The genetics of Alzheimer's disease.
Clin Interv Aging. 2014 Apr 1;9:535-51. doi: 10.2147/CIA.S51571. eCollection 2014.
9
Deposition of hyperphosphorylated tau in cerebellum of PS1 E280A Alzheimer's disease.
Brain Pathol. 2011 Jul;21(4):452-63. doi: 10.1111/j.1750-3639.2010.00469.x. Epub 2011 Jan 27.
10
The diagnosis of young-onset dementia.
Lancet Neurol. 2010 Aug;9(8):793-806. doi: 10.1016/S1474-4422(10)70159-9.

本文引用的文献

1
Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype.
Arch Neurol. 2007 May;64(5):738-45. doi: 10.1001/archneur.64.5.738.
2
Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.
J Med Genet. 2005 Oct;42(10):793-5. doi: 10.1136/jmg.2005.033456. Epub 2005 Jul 20.
3
Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease.
Neurobiol Aging. 2003 Sep;24(5):655-62. doi: 10.1016/s0197-4580(02)00192-6.
6
Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.
Am J Med Genet. 2001 Oct 1;103(2):138-43. doi: 10.1002/1096-8628(20011001)103:2<138::aid-ajmg1529>3.0.co;2-8.
10
Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease.
Neuroreport. 1996 Feb 29;7(3):801-5. doi: 10.1097/00001756-199602290-00029.

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