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1
MAPT haplotype H1G is associated with increased risk of dementia with Lewy bodies.
Alzheimers Dement. 2016 Dec;12(12):1297-1304. doi: 10.1016/j.jalz.2016.05.002. Epub 2016 Jun 7.
2
MAPT H1 haplotype is associated with enhanced α-synuclein deposition in dementia with Lewy bodies.
Neurobiol Aging. 2013 Mar;34(3):936-42. doi: 10.1016/j.neurobiolaging.2012.06.015. Epub 2012 Jul 21.
3
MAPT haplotype diversity in multiple system atrophy.
Parkinsonism Relat Disord. 2016 Sep;30:40-5. doi: 10.1016/j.parkreldis.2016.06.010. Epub 2016 Jun 16.
5
Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease.
Neurobiol Aging. 2009 Sep;30(9):1477-82. doi: 10.1016/j.neurobiolaging.2007.11.019. Epub 2007 Dec 26.
6
Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder.
Mov Disord. 2018 Jul;33(6):1016-1020. doi: 10.1002/mds.27385. Epub 2018 May 14.
7
Association of MAPT H1 subhaplotypes with neuropathology of lewy body disease.
Mov Disord. 2019 Sep;34(9):1325-1332. doi: 10.1002/mds.27773. Epub 2019 Jun 24.
8
Interaction with the MAPT H1H1 Genotype Increases Dementia Risk in APOE ε4 Carriers in a Population of Southern India.
Dement Geriatr Cogn Disord. 2016;42(5-6):255-264. doi: 10.1159/000447446. Epub 2016 Oct 6.
9
Association of MAPT Subhaplotypes With Risk of Progressive Supranuclear Palsy and Severity of Tau Pathology.
JAMA Neurol. 2019 Jun 1;76(6):710-717. doi: 10.1001/jamaneurol.2019.0250.
10
An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology.
J Neurol Neurosurg Psychiatry. 2012 Apr;83(4):424-9. doi: 10.1136/jnnp-2011-301413. Epub 2012 Jan 30.

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2
CNV-Finder: Streamlining Copy Number Variation Discovery.
bioRxiv. 2024 Nov 23:2024.11.22.624040. doi: 10.1101/2024.11.22.624040.
3
4
The genetic basis of multiple system atrophy.
J Transl Med. 2023 Feb 10;21(1):104. doi: 10.1186/s12967-023-03905-1.
5
Retrotransposon insertions associated with risk of neurologic and psychiatric diseases.
EMBO Rep. 2023 Jan 9;24(1):e55197. doi: 10.15252/embr.202255197. Epub 2022 Nov 11.
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9
Tau and MAPT genetics in tauopathies and synucleinopathies.
Parkinsonism Relat Disord. 2021 Sep;90:142-154. doi: 10.1016/j.parkreldis.2021.09.008. Epub 2021 Sep 14.

本文引用的文献

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Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies.
Neurology. 2015 Nov 10;85(19):1680-6. doi: 10.1212/WNL.0000000000001946. Epub 2015 Sep 2.
3
A novel Alzheimer disease locus located near the gene encoding tau protein.
Mol Psychiatry. 2016 Jan;21(1):108-17. doi: 10.1038/mp.2015.23. Epub 2015 Mar 17.
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Alpha-synuclein and tau: teammates in neurodegeneration?
Mol Neurodegener. 2014 Oct 29;9:43. doi: 10.1186/1750-1326-9-43.
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Association of MAPT haplotypes with Alzheimer's disease risk and MAPT brain gene expression levels.
Alzheimers Res Ther. 2014 Jul 1;6(4):39. doi: 10.1186/alzrt268. eCollection 2014.
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Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.
Hum Mol Genet. 2014 Dec 1;23(23):6139-46. doi: 10.1093/hmg/ddu334. Epub 2014 Jun 27.
8
Differential clinicopathologic and genetic features of late-onset amnestic dementias.
Acta Neuropathol. 2014 Sep;128(3):411-21. doi: 10.1007/s00401-014-1302-2. Epub 2014 Jun 5.
9
Apolipoprotein E ε2 genotype delays onset of dementia with Lewy bodies in a Norwegian cohort.
J Neurol Neurosurg Psychiatry. 2014 Nov;85(11):1227-31. doi: 10.1136/jnnp-2013-307228. Epub 2014 Mar 17.
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Incidence of dementia with Lewy bodies and Parkinson disease dementia.
JAMA Neurol. 2013 Nov;70(11):1396-402. doi: 10.1001/jamaneurol.2013.3579.

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