129 related articles for article (PubMed ID: 12042135)
1. [Clinical characteristics of a family with early-onset Alzheimer's disease associated with a presenilin 1 mutation (M139T)].
Lleó A; Blesa R; Gendre J; Castellví M; Molinuevo JL; Oliva R
Med Clin (Barc); 2002 May; 118(18):698-700. PubMed ID: 12042135
[TBL] [Abstract][Full Text] [Related]
2. Detection of the presenilin 1 gene mutation (M139T) in early-onset familial Alzheimer disease in Spain.
Queralt R; Ezquerra M; Castellví M; Lleó A; Blesa R; Oliva R
Neurosci Lett; 2001 Feb; 299(3):239-41. PubMed ID: 11165779
[TBL] [Abstract][Full Text] [Related]
3. Genotype-phenotype analysis in early-onset Alzheimer's disease due to presenilin-1 mutations at codon 139.
Hanisch F; Kölmel HW
Eur J Med Res; 2004 Jul; 9(7):361-4. PubMed ID: 15337637
[TBL] [Abstract][Full Text] [Related]
4. A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.
Ezquerra M; Lleó A; Castellví M; Queralt R; Santacruz P; Pastor P; Molinuevo JL; Blesa R; Oliva R
Arch Neurol; 2003 Aug; 60(8):1149-51. PubMed ID: 12925374
[TBL] [Abstract][Full Text] [Related]
5. [Autosomal dominant Alzheimer's disease. Study of a Moroccan family].
Asri F; Moussaoui D; Kadri N
Encephale; 2003; 29(3 Pt 1):254-8. PubMed ID: 12876550
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain.
Lleó A; Blesa R; Queralt R; Ezquerra M; Molinuevo JL; Peña-Casanova J; Rojo A; Oliva R
Arch Neurol; 2002 Nov; 59(11):1759-63. PubMed ID: 12433263
[TBL] [Abstract][Full Text] [Related]
10. Novel presenilin-1 Y159F sequence variant associated with early-onset Alzheimer's disease.
Kerchner GA; Holbrook K
Neurosci Lett; 2012 Dec; 531(2):142-4. PubMed ID: 23123781
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. [Genetic counseling and testing for families with Alzheimer's disease].
Kowalska A
Neurol Neurochir Pol; 2004; 38(6):495-501. PubMed ID: 15654674
[TBL] [Abstract][Full Text] [Related]
14. Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.
Jayadev S; Leverenz JB; Steinbart E; Stahl J; Klunk W; Yu CE; Bird TD
Brain; 2010 Apr; 133(Pt 4):1143-54. PubMed ID: 20375137
[TBL] [Abstract][Full Text] [Related]
15. Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease.
Heckmann JM; Low WC; de Villiers C; Rutherfoord S; Vorster A; Rao H; Morris CM; Ramesar RS; Kalaria RN
Brain; 2004 Jan; 127(Pt 1):133-42. PubMed ID: 14570818
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Alzheimer's disease due to an intronic presenilin-1 (PSEN1 intron 4) mutation: A clinicopathological study.
Janssen JC; Hall M; Fox NC; Harvey RJ; Beck J; Dickinson A; Campbell T; Collinge J; Lantos PL; Cipolotti L; Stevens JM; Rossor MN
Brain; 2000 May; 123 ( Pt 5)():894-907. PubMed ID: 10775535
[TBL] [Abstract][Full Text] [Related]
18. Presenilin-1 gene intronic polymorphism in sporadic and familial Alzheimer's disease.
Sorbi S; Nacmias B; Tedde A; Forleo P; Piacentini S; Latorraca S; Amaducci L
Neurosci Lett; 1997 Jan; 222(2):132-4. PubMed ID: 9111746
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.
Hattori S; Sakuma K; Wakutani Y; Wada K; Shimoda M; Urakami K; Kowa H; Nakashima K
Neurosci Lett; 2004 Sep; 368(3):319-22. PubMed ID: 15364419
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
