361 related articles for article (PubMed ID: 30822634)
1. Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease.
Gao Y; Ren RJ; Zhong ZL; Dammer E; Zhao QH; Shan S; Zhou Z; Li X; Zhang YQ; Cui HL; Hu YB; Chen SD; Chen JJ; Guo QH; Wang G
Neurobiol Aging; 2019 May; 77():154-157. PubMed ID: 30822634
[TBL] [Abstract][Full Text] [Related]
2. Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing.
Jiang B; Zhou J; Li HL; Chen YG; Cheng HR; Ye LQ; Liu DS; Chen DF; Tao QQ; Wu ZY
Neurobiol Aging; 2019 Apr; 76():215.e15-215.e21. PubMed ID: 30598257
[TBL] [Abstract][Full Text] [Related]
3.
Giau VV; Bagyinszky E; Youn YC; An SSA; Kim S
Int J Mol Sci; 2019 Sep; 20(19):. PubMed ID: 31557888
[TBL] [Abstract][Full Text] [Related]
4. Mutational analysis in early-onset familial Alzheimer's disease in Mainland China.
Jiao B; Tang B; Liu X; Xu J; Wang Y; Zhou L; Zhang F; Yan X; Zhou Y; Shen L
Neurobiol Aging; 2014 Aug; 35(8):1957.e1-6. PubMed ID: 24650794
[TBL] [Abstract][Full Text] [Related]
5. APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
Lanoiselée HM; Nicolas G; Wallon D; Rovelet-Lecrux A; Lacour M; Rousseau S; Richard AC; Pasquier F; Rollin-Sillaire A; Martinaud O; Quillard-Muraine M; de la Sayette V; Boutoleau-Bretonniere C; Etcharry-Bouyx F; Chauviré V; Sarazin M; le Ber I; Epelbaum S; Jonveaux T; Rouaud O; Ceccaldi M; Félician O; Godefroy O; Formaglio M; Croisile B; Auriacombe S; Chamard L; Vincent JL; Sauvée M; Marelli-Tosi C; Gabelle A; Ozsancak C; Pariente J; Paquet C; Hannequin D; Campion D;
PLoS Med; 2017 Mar; 14(3):e1002270. PubMed ID: 28350801
[TBL] [Abstract][Full Text] [Related]
6. Gene mutations in a Han Chinese Alzheimer's disease cohort.
Ma L; Zhang J; Shi Y; Wang W; Ren Z; Xia M; Zhang Y; Yang M
Brain Behav; 2019 Jan; 9(1):e01180. PubMed ID: 30549411
[TBL] [Abstract][Full Text] [Related]
7. PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease.
Jia L; Fu Y; Shen L; Zhang H; Zhu M; Qiu Q; Wang Q; Yan X; Kong C; Hao J; Wei C; Tang Y; Qin W; Li Y; Wang F; Guo D; Zhou A; Zuo X; Yu Y; Li D; Zhao L; Jin H; Jia J
Alzheimers Dement; 2020 Jan; 16(1):178-191. PubMed ID: 31914229
[TBL] [Abstract][Full Text] [Related]
8. Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Hsu S; Pimenova AA; Hayes K; Villa JA; Rosene MJ; Jere M; Goate AM; Karch CM
Neurobiol Dis; 2020 Jun; 139():104817. PubMed ID: 32087291
[TBL] [Abstract][Full Text] [Related]
9. Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.
Cruchaga C; Haller G; Chakraverty S; Mayo K; Vallania FL; Mitra RD; Faber K; Williamson J; Bird T; Diaz-Arrastia R; Foroud TM; Boeve BF; Graff-Radford NR; St Jean P; Lawson M; Ehm MG; Mayeux R; Goate AM;
PLoS One; 2012; 7(2):e31039. PubMed ID: 22312439
[TBL] [Abstract][Full Text] [Related]
10. Genetic screening in early-onset Alzheimer's disease identified three novel presenilin mutations.
Wong TH; Seelaar H; Melhem S; Rozemuller AJM; van Swieten JC
Neurobiol Aging; 2020 Feb; 86():201.e9-201.e14. PubMed ID: 30797548
[TBL] [Abstract][Full Text] [Related]
11. Clinical and neuroimaging characterization of Chinese dementia patients with PSEN1 and PSEN2 mutations.
Shi Z; Wang Y; Liu S; Liu M; Liu S; Zhou Y; Wang J; Cai L; Huo YR; Gao S; Ji Y
Dement Geriatr Cogn Disord; 2015; 39(1-2):32-40. PubMed ID: 25323700
[TBL] [Abstract][Full Text] [Related]
12. Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.
Sassi C; Guerreiro R; Gibbs R; Ding J; Lupton MK; Troakes C; Al-Sarraj S; Niblock M; Gallo JM; Adnan J; Killick R; Brown KS; Medway C; Lord J; Turton J; Bras J; ; Morgan K; Powell JF; Singleton A; Hardy J
Neurobiol Aging; 2014 Dec; 35(12):2881.e1-2881.e6. PubMed ID: 25104557
[TBL] [Abstract][Full Text] [Related]
13. Novel presenilin 1 and 2 double knock-out cell line for in vitro validation of PSEN1 and PSEN2 mutations.
Pimenova AA; Goate AM
Neurobiol Dis; 2020 May; 138():104785. PubMed ID: 32032730
[TBL] [Abstract][Full Text] [Related]
14. Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.
Qin Q; Yin Y; Wang Y; Lu Y; Tang Y; Jia J
Mol Genet Genomic Med; 2020 Oct; 8(10):e1443. PubMed ID: 32767553
[TBL] [Abstract][Full Text] [Related]
15. Early onset familial Alzheimer's disease: Mutation frequency in 31 families.
Janssen JC; Beck JA; Campbell TA; Dickinson A; Fox NC; Harvey RJ; Houlden H; Rossor MN; Collinge J
Neurology; 2003 Jan; 60(2):235-9. PubMed ID: 12552037
[TBL] [Abstract][Full Text] [Related]
16. Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.
Sassi C; Guerreiro R; Gibbs R; Ding J; Lupton MK; Troakes C; Lunnon K; Al-Sarraj S; Brown KS; Medway C; Lord J; Turton J; Mann D; Snowden J; Neary D; Harris J; Bras J; ; Morgan K; Powell JF; Singleton A; Hardy J
Neurobiol Aging; 2014 Oct; 35(10):2422.e13-6. PubMed ID: 24880964
[TBL] [Abstract][Full Text] [Related]
17. A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences.
Shea YF; Chu LW; Chan AO; Ha J; Li Y; Song YQ
J Formos Med Assoc; 2016 Feb; 115(2):67-75. PubMed ID: 26337232
[TBL] [Abstract][Full Text] [Related]
18. [Genetics of dementias, Part 4: a spectrum of mutations responsible for the familial autosomal dominant form of Alzheimer's disease].
Kowalska A
Postepy Hig Med Dosw (Online); 2009 Dec; 63():583-91. PubMed ID: 20009122
[TBL] [Abstract][Full Text] [Related]
19. Presenilin 1 and APP Gene Mutations in Early-Onset AD Families from a Southeast Region of China.
Zhou J; Chen Y; Meng F; Zhang K; Liu X; Peng G
Curr Alzheimer Res; 2020; 17(6):540-546. PubMed ID: 32579498
[TBL] [Abstract][Full Text] [Related]
20. Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease.
Course MM; Gudsnuk K; Keene CD; Bird TD; Jayadev S; Valdmanis PN
Brain; 2023 Feb; 146(2):507-518. PubMed ID: 35949106
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
