557 related articles for article (PubMed ID: 27777022)
1. 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]
2. The
Almkvist O; Graff C
Genes (Basel); 2021 Dec; 12(12):. PubMed ID: 34946903
[TBL] [Abstract][Full Text] [Related]
3. Mutational analysis in familial Alzheimer's disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile.
Lin YS; Cheng CY; Liao YC; Hong CJ; Fuh JL
Sci Rep; 2020 Nov; 10(1):19769. PubMed ID: 33188256
[TBL] [Abstract][Full Text] [Related]
4. Phenotypic Similarities Between Late-Onset Autosomal Dominant and Sporadic Alzheimer Disease: A Single-Family Case-Control Study.
Day GS; Musiek ES; Roe CM; Norton J; Goate AM; Cruchaga C; Cairns NJ; Morris JC
JAMA Neurol; 2016 Sep; 73(9):1125-32. PubMed ID: 27454811
[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. 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]
7. 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]
8. Longitudinal cognitive decline in autosomal-dominant Alzheimer's disease varies with mutations in APP and PSEN1 genes.
Almkvist O; Rodriguez-Vieitez E; Thordardottir S; Nordberg A; Viitanen M; Lannfelt L; Graff C
Neurobiol Aging; 2019 Oct; 82():40-47. PubMed ID: 31386938
[TBL] [Abstract][Full Text] [Related]
9. Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1.
Tiedt HO; Benjamin B; Niedeggen M; Lueschow A
Neurodegener Dis; 2018; 18(2-3):57-68. PubMed ID: 29466804
[TBL] [Abstract][Full Text] [Related]
10. 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]
11.
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]
12. Identification of PSEN1 mutations p.M233L and p.R352C in Han Chinese families with early-onset familial Alzheimer's disease.
Jiang HY; Li GD; Dai SX; Bi R; Zhang DF; Li ZF; Xu XF; Zhou TC; Yu L; Yao YG
Neurobiol Aging; 2015 Mar; 36(3):1602.e3-6. PubMed ID: 25595498
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Three novel presenilin 1 mutations marking the wide spectrum of age at onset and clinical patterns in familial Alzheimer's disease.
Roeber S; Müller-Sarnowski F; Kress J; Edbauer D; Kuhlmann T; Tüttelmann F; Schindler C; Winter P; Arzberger T; Müller U; Danek A; Kretzschmar HA
J Neural Transm (Vienna); 2015 Dec; 122(12):1715-9. PubMed ID: 26350633
[TBL] [Abstract][Full Text] [Related]
15. Neurological manifestations of autosomal dominant familial Alzheimer's disease: a comparison of the published literature with the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS).
Tang M; Ryman DC; McDade E; Jasielec MS; Buckles VD; Cairns NJ; Fagan AM; Goate A; Marcus DS; Xiong C; Allegri RF; Chhatwal JP; Danek A; Farlow MR; Fox NC; Ghetti B; Graff-Radford NR; Laske C; Martins RN; Masters CL; Mayeux RP; Ringman JM; Rossor MN; Salloway SP; Schofield PR; Morris JC; Bateman RJ;
Lancet Neurol; 2016 Dec; 15(13):1317-1325. PubMed ID: 27777020
[TBL] [Abstract][Full Text] [Related]
16. Autosomal-dominant Alzheimer's disease mutations at the same codon of amyloid precursor protein differentially alter Aβ production.
Suárez-Calvet M; Belbin O; Pera M; Badiola N; Magrané J; Guardia-Laguarta C; Muñoz L; Colom-Cadena M; Clarimón J; Lleó A
J Neurochem; 2014 Jan; 128(2):330-9. PubMed ID: 24117942
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Two Novel Mutations in the First Transmembrane Domain of Presenilin1 Cause Young-Onset Alzheimer's Disease.
Liu CY; Ohki Y; Tomita T; Osawa S; Reed BR; Jagust W; Van Berlo V; Jin LW; Chui HC; Coppola G; Ringman JM
J Alzheimers Dis; 2017; 58(4):1035-1041. PubMed ID: 28550247
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study.
Boerwinkle AH; Gordon BA; Wisch J; Flores S; Henson RL; Butt OH; McKay N; Chen CD; Benzinger TLS; Fagan AM; Handen BL; Christian BT; Head E; Mapstone M; Rafii MS; O'Bryant S; Lai F; Rosas HD; Lee JH; Silverman W; Brickman AM; Chhatwal JP; Cruchaga C; Perrin RJ; Xiong C; Hassenstab J; McDade E; Bateman RJ; Ances BM; ;
Lancet Neurol; 2023 Jan; 22(1):55-65. PubMed ID: 36517172
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
