175 related articles for article (PubMed ID: 12112163)
1. Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation.
Goldman JS; Reed B; Gearhart R; Kramer JH; Miller BL
Int J Geriatr Psychiatry; 2002 Jul; 17(7):649-51. PubMed ID: 12112163
[TBL] [Abstract][Full Text] [Related]
2. Early-onset familial Alzheimer's disease (EOFAD).
Wu L; Rosa-Neto P; Hsiung GY; Sadovnick AD; Masellis M; Black SE; Jia J; Gauthier S
Can J Neurol Sci; 2012 Jul; 39(4):436-45. PubMed ID: 22728850
[TBL] [Abstract][Full Text] [Related]
3. Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.
Kwok JB; Taddei K; Hallupp M; Fisher C; Brooks WS; Broe GA; Hardy J; Fulham MJ; Nicholson GA; Stell R; St George Hyslop PH; Fraser PE; Kakulas B; Clarnette R; Relkin N; Gandy SE; Schofield PR; Martins RN
Neuroreport; 1997 Apr; 8(6):1537-42. PubMed ID: 9172170
[TBL] [Abstract][Full Text] [Related]
4. Novel presenilin mutations within Moroccan patients with Early-Onset Alzheimer's Disease.
El Kadmiri N; Zaid N; Zaid Y; Tadevosyan A; Hachem A; Dubé MP; Hamzi K; El Moutawakil B; Slassi I; Nadifi S
Neuroscience; 2014 Jun; 269():215-22. PubMed ID: 24704512
[TBL] [Abstract][Full Text] [Related]
5. Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life.
Snider BJ; Norton J; Coats MA; Chakraverty S; Hou CE; Jervis R; Lendon CL; Goate AM; McKeel DW; Morris JC
Arch Neurol; 2005 Dec; 62(12):1821-30. PubMed ID: 16344340
[TBL] [Abstract][Full Text] [Related]
6. A novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease.
Guo J; Wei J; Liao S; Wang L; Jiang H; Tang B
Neurosci Lett; 2010 Jan; 468(1):34-7. PubMed ID: 19853643
[TBL] [Abstract][Full Text] [Related]
7. A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2.
Yasuda M; Maeda K; Hashimoto M; Yamashita H; Ikejiri Y; Bird TD; Tanaka C; Schellenberg GD
Arch Neurol; 1999 Jan; 56(1):65-9. PubMed ID: 9923762
[TBL] [Abstract][Full Text] [Related]
8. De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.
Dumanchin C; Brice A; Campion D; Hannequin D; Martin C; Moreau V; Agid Y; Martinez M; Clerget-Darpoux F; Frebourg T
J Med Genet; 1998 Aug; 35(8):672-3. PubMed ID: 9719376
[TBL] [Abstract][Full Text] [Related]
9. [Familial forms of Alzheimer's disease].
Maréchal L; Campion D; Hannequin D
Presse Med; 2003 May; 32(16):756-63. PubMed ID: 12856536
[TBL] [Abstract][Full Text] [Related]
10. A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years.
Wisniewski T; Dowjat WK; Buxbaum JD; Khorkova O; Efthimiopoulos S; Kulczycki J; Lojkowska W; Wegiel J; Wisniewski HM; Frangione B
Neuroreport; 1998 Jan; 9(2):217-21. PubMed ID: 9507958
[TBL] [Abstract][Full Text] [Related]
11. The solved and unsolved mysteries of the genetics of early-onset Alzheimer's disease.
Rogaeva E
Neuromolecular Med; 2002; 2(1):1-10. PubMed ID: 12230301
[TBL] [Abstract][Full Text] [Related]
12. Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.
Crook R; Ellis R; Shanks M; Thal LJ; Perez-Tur J; Baker M; Hutton M; Haltia T; Hardy J; Galasko D
Ann Neurol; 1997 Jul; 42(1):124-8. PubMed ID: 9225696
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene.
Harvey RJ; Ellison D; Hardy J; Hutton M; Roques PK; Collinge J; Fox NC; Rossor MN
J Neurol Neurosurg Psychiatry; 1998 Jan; 64(1):44-9. PubMed ID: 9436726
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Identification of new presenilin gene mutations in early-onset familial Alzheimer disease.
Tedde A; Nacmias B; Ciantelli M; Forleo P; Cellini E; Bagnoli S; Piccini C; Caffarra P; Ghidoni E; Paganini M; Bracco L; Sorbi S
Arch Neurol; 2003 Nov; 60(11):1541-4. PubMed ID: 14623725
[TBL] [Abstract][Full Text] [Related]
17. Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the Poznań region.
Kowalska A; Wender M; Florczak J; Pruchnik-Wolinska D; Modestowicz R; Szczech J; Rossa G; Kozubski W
J Appl Genet; 2003; 44(2):231-4. PubMed ID: 12817569
[TBL] [Abstract][Full Text] [Related]
18. A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes.
Gómez-Isla T; Wasco W; Pettingell WP; Gurubhagavatula S; Schmidt SD; Jondro PD; McNamara M; Rodes LA; DiBlasi T; Growdon WB; Seubert P; Schenk D; Growdon JH; Hyman BT; Tanzi RE
Ann Neurol; 1997 Jun; 41(6):809-13. PubMed ID: 9189043
[TBL] [Abstract][Full Text] [Related]
19. The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease.
Larner AJ; Ray PS; Doran M
J Neurol Sci; 2007 Jan; 252(2):173-6. PubMed ID: 17188713
[TBL] [Abstract][Full Text] [Related]
20. A new presenilin Alzheimer's disease case confirms the helical alignment of pathogenic mutations in transmembrane domain 5.
Coleman P; Kurlan R; Crook R; Werner J; Hardy J
Neurosci Lett; 2004 Jul; 364(3):139-40. PubMed ID: 15196662
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]