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368 related items for 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
    [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
    [Abstract] [Full Text] [Related]

  • 3. APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.
    Giau VV, Bagyinszky E, Youn YC, An SSA, Kim S.
    Int J Mol Sci; 2019 Sep 25; 20(19):. PubMed ID: 31557888
    [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 25; 35(8):1957.e1-6. PubMed ID: 24650794
    [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, collaborators of the CNR-MAJ project.
    PLoS Med; 2017 Mar 25; 14(3):e1002270. PubMed ID: 28350801
    [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 25; 9(1):e01180. PubMed ID: 30549411
    [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 25; 16(1):178-191. PubMed ID: 31914229
    [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 25; 139():104817. PubMed ID: 32087291
    [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, NIA-LOAD/NCRAD Family Study Consortium.
    PLoS One; 2012 Jun 25; 7(2):e31039. PubMed ID: 22312439
    [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 25; 86():201.e9-201.e14. PubMed ID: 30797548
    [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 Feb 25; 39(1-2):32-40. PubMed ID: 25323700
    [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, Alzheimer's Research UK Consortium, Morgan K, Powell JF, Singleton A, Hardy J.
    Neurobiol Aging; 2014 Dec 25; 35(12):2881.e1-2881.e6. PubMed ID: 25104557
    [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 25; 138():104785. PubMed ID: 32032730
    [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 25; 8(10):e1443. PubMed ID: 32767553
    [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 28; 60(2):235-9. PubMed ID: 12552037
    [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, ARUK Consortium, Morgan K, Powell JF, Singleton A, Hardy J.
    Neurobiol Aging; 2014 Oct 28; 35(10):2422.e13-6. PubMed ID: 24880964
    [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 28; 115(2):67-75. PubMed ID: 26337232
    [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 01; 63():583-91. PubMed ID: 20009122
    [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 Dec 01; 17(6):540-546. PubMed ID: 32579498
    [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 13; 146(2):507-518. PubMed ID: 35949106
    [Abstract] [Full Text] [Related]

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