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 *

111 related articles for article (PubMed ID: 31627977)

  • 1. Identification of a rare presenilin 1 single amino acid deletion mutation (F175del) with unusual amyloid-β processing effects.
    Vöglein J; Willem M; Trambauer J; Schönecker S; Dieterich M; Biskup S; Giudici C; Utz K; Oberstein T; Brendel M; Rominger A; Danek A; Steiner H; Haass C; Levin J
    Neurobiol Aging; 2019 Dec; 84():241.e5-241.e11. PubMed ID: 31627977
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds.
    Veugelen S; Saito T; Saido TC; Chávez-Gutiérrez L; De Strooper B
    Neuron; 2016 Apr; 90(2):410-6. PubMed ID: 27100199
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of a novel PSEN1 Gly111Val missense mutation in a Chinese pedigree with early-onset Alzheimer's disease.
    Qiu Q; Jia L; Wang Q; Zhao L; Jin H; Li T; Quan M; Xu L; Li B; Li Y; Jia J
    Neurobiol Aging; 2020 Jan; 85():155.e1-155.e4. PubMed ID: 31235344
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Presenilin-1 mutation is associated with a hippocampus defect in alzheimer's disease: Meta-Analysis for neuroimaging research.
    Gu X; Zhao M; Han X; Liu L
    Clin Neurol Neurosurg; 2020 Apr; 191():105679. PubMed ID: 32004985
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Age of onset predicted by Aβ profiling in a novel PSEN1 (I180F) mutation.
    Robbie L; Fernández SG; Montoya L; Sagare A; Barrera L; Sheikh-Bahaei N; Gutierrez LC; Ringman JM
    Neurosci Lett; 2024 Jan; 820():137591. PubMed ID: 38103630
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.
    Natelson Love M; Clark DG; Cochran JN; Den Beste KA; Geldmacher DS; Benzinger TL; Gordon BA; Morris JC; Bateman RJ; Roberson ED
    Neurobiol Aging; 2017 Jan; 49():216.e7-216.e13. PubMed ID: 27793474
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Computing the Pathogenicity of Alzheimer's Disease Presenilin 1 Mutations.
    Tang N; Dehury B; Kepp KP
    J Chem Inf Model; 2019 Feb; 59(2):858-870. PubMed ID: 30681848
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel V272D presenilin mutation associated with logopenia, disorientation, and apraxia in an autosomal-dominant Alzheimer's disease family.
    Mengel D; Liu L; Yamamoto R; Zülow S; Deuschl C; Hermann DM; Zerr I; Selkoe DJ; Dodel R
    Neurobiol Aging; 2020 Jan; 85():154.e5-154.e7. PubMed ID: 31500908
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. The novel I213S mutation in PSEN1 gene is located in a hotspot codon associated with familial early-onset Alzheimer's disease.
    Catania M; Marti A; Rossi G; Fioretti A; Boiocchi C; Ricci M; Gasparini F; Beltrami D; Crepaldi V; Redaelli V; Giaccone G; Di Fede G
    Neurobiol Aging; 2022 Apr; 112():191-196. PubMed ID: 35231845
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Discovery and validation of autosomal dominant Alzheimer's disease mutations.
    Hsu S; Gordon BA; Hornbeck R; Norton JB; Levitch D; Louden A; Ziegemeier E; Laforce R; Chhatwal J; Day GS; McDade E; Morris JC; Fagan AM; Benzinger TLS; Goate AM; Cruchaga C; Bateman RJ; ; Karch CM
    Alzheimers Res Ther; 2018 Jul; 10(1):67. PubMed ID: 30021643
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genes and mechanisms involved in beta-amyloid generation and Alzheimer's disease.
    Steiner H; Capell A; Leimer U; Haass C
    Eur Arch Psychiatry Clin Neurosci; 1999; 249(6):266-70. PubMed ID: 10653281
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.
    De Jonghe C; Cruts M; Rogaeva EA; Tysoe C; Singleton A; Vanderstichele H; Meschino W; Dermaut B; Vanderhoeven I; Backhovens H; Vanmechelen E; Morris CM; Hardy J; Rubinsztein DC; St George-Hyslop PH; Van Broeckhoven C
    Hum Mol Genet; 1999 Aug; 8(8):1529-40. PubMed ID: 10401002
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Deposition of C-terminally truncated Aβ species Aβ37 and Aβ39 in Alzheimer's disease and transgenic mouse models.
    Reinert J; Richard BC; Klafki HW; Friedrich B; Bayer TA; Wiltfang J; Kovacs GG; Ingelsson M; Lannfelt L; Paetau A; Bergquist J; Wirths O
    Acta Neuropathol Commun; 2016 Mar; 4():24. PubMed ID: 26955942
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions.
    Keller L; Welander H; Chiang HH; Tjernberg LO; Nennesmo I; Wallin AK; Graff C
    Eur J Hum Genet; 2010 Nov; 18(11):1202-8. PubMed ID: 20628413
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Evidence For and Against a Pathogenic Role of Reduced γ-Secretase Activity in Familial Alzheimer's Disease.
    Jayne T; Newman M; Verdile G; Sutherland G; Münch G; Musgrave I; Moussavi Nik SH; Lardelli M
    J Alzheimers Dis; 2016 Apr; 52(3):781-99. PubMed ID: 27060961
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Dominant negative effect of the loss-of-function γ-secretase mutants on the wild-type enzyme through heterooligomerization.
    Zhou R; Yang G; Shi Y
    Proc Natl Acad Sci U S A; 2017 Nov; 114(48):12731-12736. PubMed ID: 29078389
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Loss of stability and hydrophobicity of presenilin 1 mutations causing Alzheimer's disease.
    Somavarapu AK; Kepp KP
    J Neurochem; 2016 Apr; 137(1):101-11. PubMed ID: 26756738
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.