413 related articles for article (PubMed ID: 16267640)
1. Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ; Doran M
J Neurol; 2006 Feb; 253(2):139-58. PubMed ID: 16267640
[TBL] [Abstract][Full Text] [Related]
2. Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
Ryan NS; Nicholas JM; Weston PSJ; Liang Y; Lashley T; Guerreiro R; Adamson G; Kenny J; Beck J; Chavez-Gutierrez L; de Strooper B; Revesz T; Holton J; Mead S; Rossor MN; Fox NC
Lancet Neurol; 2016 Dec; 15(13):1326-1335. PubMed ID: 27777022
[TBL] [Abstract][Full Text] [Related]
3. A novel presenilin 1 duplication mutation (Ile168dup) causing Alzheimer's disease associated with myoclonus, seizures and pyramidal features.
O'Connor A; Abel E; Fraser MR; Ryan NS; Jiménez DA; Koriath C; Chávez-Gutiérrez L; Ansorge O; Mummery CJ; Lashley T; Rossor MN; Polke JM; Mead S; Fox NC
Neurobiol Aging; 2021 Jul; 103():137.e1-137.e5. PubMed ID: 33648786
[TBL] [Abstract][Full Text] [Related]
4. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.
Campion D; Dumanchin C; Hannequin D; Dubois B; Belliard S; Puel M; Thomas-Anterion C; Michon A; Martin C; Charbonnier F; Raux G; Camuzat A; Penet C; Mesnage V; Martinez M; Clerget-Darpoux F; Brice A; Frebourg T
Am J Hum Genet; 1999 Sep; 65(3):664-70. PubMed ID: 10441572
[TBL] [Abstract][Full Text] [Related]
5. Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
J Alzheimers Dis; 2013; 37(4):653-9. PubMed ID: 23948899
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland.
Zekanowski C; Styczyńska M; Pepłońska B; Gabryelewicz T; Religa D; Ilkowski J; Kijanowska-Haładyna B; Kotapka-Minc S; Mikkelsen S; Pfeffer A; Barczak A; Łuczywek E; Wasiak B; Chodakowska-Zebrowska M; Gustaw K; Łaczkowski J; Sobów T; Kuźnicki J; Barcikowska M
Exp Neurol; 2003 Dec; 184(2):991-6. PubMed ID: 14769392
[TBL] [Abstract][Full Text] [Related]
8. Clinical characterization of a presenilin 1 mutation (F177S) in a family with very early-onset Alzheimer's disease in the third decade of life.
Hausner L; Tschäpe JA; Schmitt HP; Hentschel F; Hartmann T; Frölich L
Alzheimers Dement; 2014 Mar; 10(2):e27-39. PubMed ID: 23850332
[TBL] [Abstract][Full Text] [Related]
9. Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.
Arango D; Cruts M; Torres O; Backhovens H; Serrano ML; Villareal E; Montañes P; Matallana D; Cano C; Van Broeckhoven C; Jacquier M
Am J Med Genet; 2001 Oct; 103(2):138-43. PubMed ID: 11568920
[TBL] [Abstract][Full Text] [Related]
10. Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
Yang Y; Bagyinszky E; An SSA
Int J Mol Sci; 2023 May; 24(9):. PubMed ID: 37176125
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.
Larner AJ; Doran M
J Alzheimers Dis; 2009; 17(2):259-65. PubMed ID: 19221408
[TBL] [Abstract][Full Text] [Related]
13. Loss of stability and hydrophobicity of presenilin 1 mutations causing Alzheimer's disease.
Somavarapu AK; Kepp KP
J Neurochem; 2016 Apr; 137(1):101-11. PubMed ID: 26756738
[TBL] [Abstract][Full Text] [Related]
14. A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis.
Ataka S; Tomiyama T; Takuma H; Yamashita T; Shimada H; Tsutada T; Kawabata K; Mori H; Miki T
Arch Neurol; 2004 Nov; 61(11):1773-6. PubMed ID: 15534188
[TBL] [Abstract][Full Text] [Related]
15. Presenile because of presenilin: the presenilin genes and early onset Alzheimer's disease.
Haass C
Curr Opin Neurol; 1996 Aug; 9(4):254-9. PubMed ID: 8858181
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome?
Larner AJ
Epilepsy Behav; 2011 May; 21(1):20-2. PubMed ID: 21501974
[TBL] [Abstract][Full Text] [Related]
18. The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors.
Gómez-Isla T; Growdon WB; McNamara MJ; Nochlin D; Bird TD; Arango JC; Lopera F; Kosik KS; Lantos PL; Cairns NJ; Hyman BT
Brain; 1999 Sep; 122 ( Pt 9)():1709-19. PubMed ID: 10468510
[TBL] [Abstract][Full Text] [Related]
19. A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion.
Furuya H; Yasuda M; Terasawa KJ; Tanaka K; Murai H; Kira J; Ohyagi Y
J Neurol Sci; 2003 May; 209(1-2):75-7. PubMed ID: 12686406
[TBL] [Abstract][Full Text] [Related]
20. Pathology of early-onset Alzheimer's disease cases bearing the Thr113-114ins presenilin-1 mutation.
Singleton AB; Hall R; Ballard CG; Perry RH; Xuereb JH; Rubinsztein DC; Tysoe C; Matthews P; Cordell B; Kumar-Singh S; De Jonghe C; Cruts M; van Broeckhoven C; Morris CM
Brain; 2000 Dec; 123 Pt 12():2467-74. PubMed ID: 11099448
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
