BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (PubMed ID: 11684347)

  • 1. A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies.
    Houlden H; Crook R; Dolan RJ; McLaughlin J; Revesz T; Hardy J
    Neurosci Lett; 2001 Nov; 313(1-2):93-5. PubMed ID: 11684347
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Autopsy-confirmed familial early-onset Alzheimer disease caused by the l153V presenilin 1 mutation.
    Janssen JC; Lantos PL; Fox NC; Harvey RJ; Beck J; Dickinson A; Campbell TA; Collinge J; Hanger DP; Cipolotti L; Stevens JM; Rossor MN
    Arch Neurol; 2001 Jun; 58(6):953-8. PubMed ID: 11405810
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. [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]  

  • 8. NACP/alpha-synuclein, NAC, and beta-amyloid pathology of familial Alzheimer's disease with the E184D presenilin-1 mutation: a clinicopathological study of two autopsy cases.
    Yokota O; Terada S; Ishizu H; Ujike H; Ishihara T; Nakashima H; Yasuda M; Kitamura Y; Uéda K; Checler F; Kuroda S
    Acta Neuropathol; 2002 Dec; 104(6):637-48. PubMed ID: 12410385
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. A novel missense mutation in the presenilin-1 gene in a familial Alzheimer's disease pedigree with abundant amyloid angiopathy.
    Yasuda M; Maeda K; Ikejiri Y; Kawamata T; Kuroda S; Tanaka C
    Neurosci Lett; 1997 Aug; 232(1):29-32. PubMed ID: 9292884
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene.
    Smith MJ; Gardner RJ; Knight MA; Forrest SM; Beyreuther K; Storey E; McLean CA; Cotton RG; Cappal R; Masters CL
    Neuroreport; 1999 Feb; 10(3):503-7. PubMed ID: 10208579
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease.
    Bertoli Avella AM; Marcheco Teruel B; Llibre Rodriguez JJ; Gomez Viera N; Borrajero Martinez I; Severijnen EA; Joosse M; van Duijn CM; Heredero Baute L; Heutink P
    Neurogenetics; 2002 Oct; 4(2):97-104. PubMed ID: 12484344
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease.
    Raux G; Gantier R; Martin C; Pothin Y; Brice A; Frebourg T; Campion D
    Hum Mutat; 2000 Jul; 16(1):95. PubMed ID: 10874324
    [No Abstract]   [Full Text] [Related]  

  • 15. 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]  

  • 16. Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Mutations in brief no. 141. Online. besancon@rockefeller1.univ.lyon1.fr.
    Besançon R; Lorenzi A; Cruts M; Radawiec S; Sturtz F; Broussolle E; Chazot G; van Broeckhoven C; Chamba G; Vandenberghe A
    Hum Mutat; 1998; 11(6):481. PubMed ID: 10200054
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation.
    Dermaut B; Kumar-Singh S; De Jonghe C; Cruts M; Löfgren A; Lübke U; Cras P; Dom R; De Deyn PP; Martin JJ; Van Broeckhoven C
    Brain; 2001 Dec; 124(Pt 12):2383-92. PubMed ID: 11701593
    [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]
    of 9.