These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
212 related articles for article (PubMed ID: 30954774)
21. C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic. Wojtas A; Heggeli KA; Finch N; Baker M; Dejesus-Hernandez M; Younkin SG; Dickson DW; Graff-Radford NR; Rademakers R Am J Neurodegener Dis; 2012; 1(1):107-18. PubMed ID: 23383383 [TBL] [Abstract][Full Text] [Related]
22. Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort. Cohn-Hokke PE; Wong TH; Rizzu P; Breedveld G; van der Flier WM; Scheltens P; Baas F; Heutink P; Meijers-Heijboer EJ; van Swieten JC; Pijnenburg YA J Neurol; 2014 Nov; 261(11):2085-92. PubMed ID: 25108559 [TBL] [Abstract][Full Text] [Related]
23. Genetic Screening of Patients with Sporadic Alzheimer's Disease and Frontotemporal Lobar Degeneration in the Chinese Population. Li Y; Yang Z; Zhang Y; Liu F; Xu J; Meng Y; Xing G; Ruan X; Sun J; Zhang N J Alzheimers Dis; 2024; 99(2):577-593. PubMed ID: 38701145 [TBL] [Abstract][Full Text] [Related]
24. Novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family. Niu F; Yu S; Zhang Z; Yi X; Ye L; Tang W; Qiu C; Wen H; Sun Y; Gao J; Guo Y Neurobiol Aging; 2014 Oct; 35(10):2420.e1-5. PubMed ID: 24838186 [TBL] [Abstract][Full Text] [Related]
25. Genetic analyses of early-onset Alzheimer's disease using next generation sequencing. Giau VV; Bagyinszky E; Yang YS; Youn YC; An SSA; Kim SY Sci Rep; 2019 Jun; 9(1):8368. PubMed ID: 31182772 [TBL] [Abstract][Full Text] [Related]
26. A genetic screen of the mutations in the Korean patients with early-onset Alzheimer's disease. An SS; Park SA; Bagyinszky E; Bae SO; Kim YJ; Im JY; Park KW; Park KH; Kim EJ; Jeong JH; Kim JH; Han HJ; Choi SH; Kim S Clin Interv Aging; 2016; 11():1817-1822. PubMed ID: 28008242 [TBL] [Abstract][Full Text] [Related]
27. Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants. Blauwendraat C; Wilke C; Jansen IE; Schulte C; Simón-Sánchez J; Metzger FG; Bender B; Gasser T; Maetzler W; Rizzu P; Heutink P; Synofzik M Neurobiol Aging; 2016 Jan; 37():208.e11-208.e17. PubMed ID: 26522186 [TBL] [Abstract][Full Text] [Related]
28. Mutation Analysis of the Genes Linked to Early Onset Alzheimer's Disease and Frontotemporal Lobar Degeneration. Luukkainen L; Helisalmi S; Kytövuori L; Ahmasalo R; Solje E; Haapasalo A; Hiltunen M; Remes AM; Krüger J J Alzheimers Dis; 2019; 69(3):775-782. PubMed ID: 31127772 [TBL] [Abstract][Full Text] [Related]
29. Genetic study of young-onset dementia using targeted gene panel sequencing in Taiwan. Hsu JL; Lin CH; Chen PL; Lin KJ; Chen TF Am J Med Genet B Neuropsychiatr Genet; 2021 Mar; 186(2):67-76. PubMed ID: 33580635 [TBL] [Abstract][Full Text] [Related]
30. Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia. Park J; An SSA; Giau VV; Shim K; Youn YC; Bagyinszky E; Kim S Neurobiol Aging; 2017 Aug; 56():212.e11-212.e17. PubMed ID: 28532645 [TBL] [Abstract][Full Text] [Related]
31. Identification of a novel PSEN1 Gly111Val missense mutation in a Chinese pedigree with early-onset Alzheimer's disease. Qiu Q; Jia L; Wang Q; Zhao L; Jin H; Li T; Quan M; Xu L; Li B; Li Y; Jia J Neurobiol Aging; 2020 Jan; 85():155.e1-155.e4. PubMed ID: 31235344 [TBL] [Abstract][Full Text] [Related]
32. Genetic testing in familial AD and FTD: mutation and phenotype spectrum in a Danish cohort. Lindquist SG; Schwartz M; Batbayli M; Waldemar G; Nielsen JE Clin Genet; 2009 Aug; 76(2):205-9. PubMed ID: 19659892 [TBL] [Abstract][Full Text] [Related]
33. Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing. Yagi R; Miyamoto R; Morino H; Izumi Y; Kuramochi M; Kurashige T; Maruyama H; Mizuno N; Kurihara H; Kawakami H Neurobiol Aging; 2014 Jul; 35(7):1780.e1-5. PubMed ID: 24559647 [TBL] [Abstract][Full Text] [Related]
34. Rare Pathogenic Variants in Pooled Whole-Exome Sequencing Data Suggest Hyperammonemia as a Possible Cause of Dementia Not Classified as Alzheimer's Disease or Frontotemporal Dementia. Karachanak-Yankova S; Serbezov D; Antov G; Stancheva M; Mihaylova M; Hadjidekova S; Toncheva D; Pashov A; Belejanska D; Zhelev Y; Petrova M; Mehrabian S; Traykov L Genes (Basel); 2024 Jun; 15(6):. PubMed ID: 38927689 [TBL] [Abstract][Full Text] [Related]
35. Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort. Mao C; Li J; Dong L; Huang X; Lei D; Wang J; Chu S; Liu C; Peng B; Román GC; Cui L; Gao J Curr Alzheimer Res; 2021; 18(3):265-272. PubMed ID: 34102969 [TBL] [Abstract][Full Text] [Related]
36. Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing. Piccoli E; Rossi G; Rossi T; Pelliccioni G; D'Amato I; Tagliavini F; Di Fede G Neurobiol Aging; 2016 Apr; 40():192.e7-192.e11. PubMed ID: 26925509 [TBL] [Abstract][Full Text] [Related]
37. Contribution of homozygous and compound heterozygous missense mutations in VWA2 to Alzheimer's disease. Hoogmartens J; Hens E; Engelborghs S; Vandenberghe R; De Deyn PP; Cacace R; Van Broeckhoven C; Neurobiol Aging; 2021 Mar; 99():100.e17-100.e23. PubMed ID: 33023779 [TBL] [Abstract][Full Text] [Related]
38. The Missing Heritability of Sporadic Frontotemporal Dementia: New Insights from Rare Variants in Neurodegenerative Candidate Genes. Ciani M; Bonvicini C; Scassellati C; Carrara M; Maj C; Fostinelli S; Binetti G; Ghidoni R; Benussi L Int J Mol Sci; 2019 Aug; 20(16):. PubMed ID: 31405128 [TBL] [Abstract][Full Text] [Related]
39. Data Mining: Applying the AD&FTD Mutation Database to Progranulin. Cruts M; Van Broeckhoven C Methods Mol Biol; 2018; 1806():81-92. PubMed ID: 29956270 [TBL] [Abstract][Full Text] [Related]
40. Whole exome sequencing analyses identified novel genes for Alzheimer's disease and related dementia. Zhang YR; Wu BS; Chen SD; Yang L; Deng YT; Guo Y; Wu XR; Liu WS; Kang JJ; Feng JF; Cheng W; Yu JT Alzheimers Dement; 2024 Oct; 20(10):7062-7078. PubMed ID: 39129223 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]