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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

126 related articles for article (PubMed ID: 9712537)

  • 1. Presenilin 1 Met146Leu variant due to an A --> T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina.
    Morelli L; Prat MI; Levy E; Mangone CA; Castaño EM
    Clin Genet; 1998 Jun; 53(6):469-73. PubMed ID: 9712537
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Familial Alzheimer's disease co-segregates with a Met146I1e substitution in presenilin-1.
    Jørgensen P; Bus C; Pallisgaard N; Bryder M; Jørgensen AL
    Clin Genet; 1996 Nov; 50(5):281-6. PubMed ID: 9007311
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.
    Sherrington R; Froelich S; Sorbi S; Campion D; Chi H; Rogaeva EA; Levesque G; Rogaev EI; Lin C; Liang Y; Ikeda M; Mar L; Brice A; Agid Y; Percy ME; Clerget-Darpoux F; Piacentini S; Marcon G; Nacmias B; Amaducci L; Frebourg T; Lannfelt L; Rommens JM; St George-Hyslop PH
    Hum Mol Genet; 1996 Jul; 5(7):985-8. PubMed ID: 8817335
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of a novel mutation (Leu282Arg) of the human presenilin 1 gene in Alzheimer's disease.
    Aldudo J; Bullido MJ; Arbizu T; Oliva R; Valdivieso F
    Neurosci Lett; 1998 Jan; 240(3):174-6. PubMed ID: 9502232
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease.
    Taddei K; Kwok JB; Kril JJ; Halliday GM; Creasey H; Hallupp M; Fisher C; Brooks WS; Chung C; Andrews C; Masters CL; Schofield PR; Martins RN
    Neuroreport; 1998 Oct; 9(14):3335-9. PubMed ID: 9831473
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients.
    Ikeda M; Sharma V; Sumi SM; Rogaeva EA; Poorkaj P; Sherrington R; Nee L; Tsuda T; Oda N; Watanabe M; Aoki M; Shoji M; Abe K; Itoyama Y; Hirai S; Schellenberg GD; Bird TD; St George-Hyslop PH
    Ann Neurol; 1996 Dec; 40(6):912-7. PubMed ID: 9007097
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease.
    Forsell C; Froelich S; Axelman K; Vestling M; Cowburn RF; Lilius L; Johnston JA; Engvall B; Johansson K; Dahlkild A; Ingelson M; St George-Hyslop PH; Lannfelt L
    Neurosci Lett; 1997 Sep; 234(1):3-6. PubMed ID: 9347932
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A presenilin-1 Thr116Asn substitution in a family with early-onset Alzheimer's disease.
    Romero I; Jørgensen P; Bolwig G; Fraser PE; Rogaeva E; Mann D; Havsager AM; Jørgensen AL
    Neuroreport; 1999 Aug; 10(11):2255-60. PubMed ID: 10439444
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene.
    Perez-Tur J; Froelich S; Prihar G; Crook R; Baker M; Duff K; Wragg M; Busfield F; Lendon C; Clark RF
    Neuroreport; 1995 Dec; 7(1):297-301. PubMed ID: 8742474
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset Alzheimer's disease.
    Lao JI; Beyer K; Fernández-Novoa L; Cacabelos R
    Neurogenetics; 1998 Aug; 1(4):293-6. PubMed ID: 10732806
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.
    Alzheimer's Disease Collaborative Group
    Nat Genet; 1995 Oct; 11(2):219-22. PubMed ID: 7550356
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. [Mutation analysis of S182 (presenilin-I) in patients with familial Alzheimer's disease and its biological function].
    Ikeda M
    Nihon Ronen Igakkai Zasshi; 1998 Apr; 35(4):285-9. PubMed ID: 9643011
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families.
    Kamino K; Sato S; Sakaki Y; Yoshiiwa A; Nishiwaki Y; Takeda M; Tanabe H; Nishimura T; Ii K; St George-Hyslop PH; Miki T; Ogihara T
    Neurosci Lett; 1996 Apr; 208(3):195-8. PubMed ID: 8733303
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease.
    Miklossy J; Taddei K; Suva D; Verdile G; Fonte J; Fisher C; Gnjec A; Ghika J; Suard F; Mehta PD; McLean CA; Masters CL; Brooks WS; Martins RN
    Neurobiol Aging; 2003 Sep; 24(5):655-62. PubMed ID: 12885573
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.