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There are 7766077 results for: content related to: The Clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients

  1. Presenilin mutations in Alzheimer's disease

    Human Mutation

    Volume 11, Issue 3, 1998, Pages: 183–190, Marc Cruts and Christine Van Broeckhoven

    Version of Record online : 7 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J

  2. ApoE genotype is a risk factor in nonpresenilin early-onset alzheimer's disease families

    American Journal of Medical Genetics

    Volume 81, Issue 1, 7 February 1998, Pages: 117–121, Henry Houlden, Richard Crook, Hubert Backhovens, Guy Prihar, Matt Baker, Mike Hutton, Martin Rossor, Jean Jacques Martin, Christine Van Broeckhoven and John Hardy

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19980207)81:1<117::AID-AJMG19>3.0.CO;2-M

  3. Cell and molecular neurobiology of presenilins: A role for the endoplasmic reticulum in the pathogenesis of Alzheimer's disease?

    Journal of Neuroscience Research

    Volume 50, Issue 4, 15 November 1997, Pages: 505–513, Mark P. Mattson and Qing Guo

    Version of Record online : 7 DEC 1998, DOI: 10.1002/(SICI)1097-4547(19971115)50:4<505::AID-JNR1>3.0.CO;2-I

  4. Association between presenilin-1 polymorphism and maternal meiosis II errors in Down syndrome

    American Journal of Medical Genetics

    Volume 93, Issue 5, 28 August 2000, Pages: 366–372, Michael B. Petersen, Georgia Karadima, Maria Samaritaki, Dimitris Avramopoulos, Dimitris Vassilopoulos and Margareta Mikkelsen

    Version of Record online : 14 AUG 2000, DOI: 10.1002/1096-8628(20000828)93:5<366::AID-AJMG5>3.0.CO;2-G

  5. E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles

    Human Mutation

    Volume 10, Issue 3, 1997, Pages: 186–195, Corinne L. Lendon, Alonso Martinez, Isabel Maria Behrens, Kenneth S. Kosik, Lucia Madrigal, Joanne Norton, Rosalind Neuman, Amanda Myers, Frances Busfield, Michelle Wragg, Mauricio Arcos, Juan Carlos Arango Viana, Jorge Ossa, Andres Ruiz, Alison M. Goate and Francisco Lopera

    Version of Record online : 8 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1997)10:3<186::AID-HUMU2>3.0.CO;2-H

  6. Genetics of dementia: Update and guidelines for the clinician

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 159B, Issue 6, September 2012, Pages: 628–643, Petra E. Cohn-Hokke, Mariet W. Elting, Yolande A.L. Pijnenburg and John C. van Swieten

    Version of Record online : 19 JUL 2012, DOI: 10.1002/ajmg.b.32080

  7. Systematic genetic study of Alzheimer disease in Latin America: Mutation frequencies of the amyloid β precursor protein and presenilin genes in Colombia

    American Journal of Medical Genetics

    Volume 103, Issue 2, 1 October 2001, Pages: 138–143, Diana Arango, Marc Cruts, Orlando Torres, Hubert Backhovens, Martha L. Serrano, Elsa Villareal, Patricia Montañes, Diana Matallana, Carlos Cano, Christine Van Broeckhoven and Martine Jacquier

    Version of Record online : 17 SEP 2001, DOI: 10.1002/1096-8628(20011001)103:2<138::AID-AJMG1529>3.0.CO;2-8

  8. Investigation of association of 13 polymorphisms in eight genes in southeastern African American Alzheimer disease patients as compared to age-matched controls

    American Journal of Medical Genetics

    Volume 105, Issue 4, 8 May 2001, Pages: 332–342, Rodney T. Perry, Julianne S. Collins, Lindy E. Harrell, Ronald T. Acton and Rodney C.P. Go

    Version of Record online : 30 APR 2001, DOI: 10.1002/ajmg.1371

  9. DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: Two novel mutations

    Human Mutation

    Volume 14, Issue 5, November 1999, Pages: 433–439, J. Aldudo, M.J. Bullido and F. Valdivieso

    Version of Record online : 22 OCT 1999, DOI: 10.1002/(SICI)1098-1004(199911)14:5<433::AID-HUMU10>3.0.CO;2-K

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    Identification of new Presenilin-1 phosphosites: implication for γ-secretase activity and Aβ production

    Journal of Neurochemistry

    Volume 133, Issue 3, May 2015, Pages: 409–421, Alexandre Matz, Blanka Halamoda-Kenzaoui, Romain Hamelin, Sebastien Mosser, Jean-René Alattia, Mitko Dimitrov, Marc Moniatte and Patrick C. Fraering

    Version of Record online : 24 FEB 2015, DOI: 10.1111/jnc.12996

  11. An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 150B, Issue 5, 5 July 2009, Pages: 721–735, Todd L. Edwards, Margaret Pericak-Vance, Johnny R. Gilbert, Jonathan L. Haines, Eden R. Martin and Marylyn D. Ritchie

    Version of Record online : 22 DEC 2008, DOI: 10.1002/ajmg.b.30899

  12. Presenilin-1 protein expression in familial and sporadic Alzheimer's disease

    Annals of Neurology

    Volume 41, Issue 6, June 1997, Pages: 742–753, Dr Allan I. Levey, Craig J. Heilman, James J. Lah, Norman R. Nash, Howard D. Rees, Masakazu Wakai, Suzanne S. Mirra, David B. Rye, David Nochlin, Thomas D. Bird and Elliott J. Mufson

    Version of Record online : 8 OCT 2004, DOI: 10.1002/ana.410410610

  13. Clinical features of early onset, familial Alzheimer's disease linked to chromosome 14

    American Journal of Medical Genetics

    Volume 60, Issue 1, 27 February 1995, Pages: 44–52, Michael Mullan, Craig Bennett, Cecilia Figueredo, David Hughes, Rebecca Mant, Michael Owen, Andrew Warren, Melvin McInnis, Anne Marshall, Peter Lantos, John Collinge, Alison Goate, Henry Houlden and Fiona Crawford

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320600109

  14. A novel presenilin-1 mutation: Increased β-amyloid and neurofibrillary changes

    Annals of Neurology

    Volume 41, Issue 6, June 1997, Pages: 809–813, T. Gómez-Isla, W. Wasco, W. P. Pettingell, S. Gurubhagavatula, S. D. Schmidt, P. D. Jondro, M. McNamara, L. A. Rodes, T. Diblasi, W. B. Growdon, P. Seubert, D. Schenk, J. H. Growdon, B. T. Hyman and Dr R. E. Tanzi

    Version of Record online : 8 OCT 2004, DOI: 10.1002/ana.410410618

  15. A unifying hypothesis of Alzheimer's disease. III. Risk factors

    Human Psychopharmacology: Clinical and Experimental

    Volume 15, Issue 1, January 2000, Pages: 1–70, Kurt Heininger

    Version of Record online : 7 MAR 2000, DOI: 10.1002/(SICI)1099-1077(200001)15:1<1::AID-HUP153>3.0.CO;2-1

  16. A Genomic Search for Alzheimer's Disease Genes

    Alzheimer's Disease: Advances in Etiology, Pathogenesis and Therapeutics

    Jonathan L. Haines, L. Renee Bailey, Janet M. Grubber, Dale Hedges, Jenifer L. Hall, Sandra West, Leonard Santoro, Beth Kemmerer, Anne M. Saunders, Allen D. Roses, Gary W. Small, William K. Scott, P. Michael Conneally, Jeffery M. Vance, Margaret A. Pericak-Vance, Pages: 31–43, 2002

    Published Online : 18 APR 2002, DOI: 10.1002/0470846453.ch4

  17. Genome screen for loci influencing age at onset and rate of decline in late onset Alzheimer's disease

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 135B, Issue 1, 5 May 2005, Pages: 24–32, Peter Holmans, Marian Hamshere, Paul Hollingworth, Frances Rice, Nigel Tunstall, Sue Jones, Pamela Moore, Fabienne Wavrant DeVrieze, Amanda Myers, Richard Crook, Danielle Compton, Helen Marshall, David Meyer, Shantia Shears, Jeremy Booth, Dzanan Ramic, Nigel Williams, Nadine Norton, Richard Abraham, Pat Kehoe, Hywel Williams, Varuni Rudrasingham, Mick O'Donovan, Lesley Jones, John Hardy, Alison Goate, Simon Lovestone, Michael Owen and Julie Williams

    Version of Record online : 23 FEB 2005, DOI: 10.1002/ajmg.b.30114

  18. Genetic factors in Alzheimer's disease: A review of recent advances

    Annals of Neurology

    Volume 40, Issue 6, December 1996, Pages: 829–840, Ephrat Levy-Lahad and Dr. Thomas D. Bird

    Version of Record online : 16 OCT 2004, DOI: 10.1002/ana.410400604

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    Impaired cell cycle control of neuronal precursor cells in the neocortical primordium of presenilin-1-deficient mice

    Journal of Neuroscience Research

    Volume 70, Issue 3, 1 November 2002, Pages: 501–513, Shigeki Yuasa, Mitsunari Nakajima, Hidenori Aizawa, Naruhiko Sahara, Ken-Ichi Koizumi, Tsuyoshi Sakai, Mihoko Usami, Shin-Ichiro Kobayashi, Hidehito Kuroyanagi, Hiroshi Mori, Haruhiko Koseki and Takuji Shirasawa

    Version of Record online : 18 OCT 2002, DOI: 10.1002/jnr.10430

  20. PCR detection of common DNA variation c626T>C in encoding region of presenilin 2 (PSEN2) gene

    Human Mutation

    Volume 13, Issue 6, 1999, Page: 507, G.I. Korovaitseva, A. Grigorenko, N. Riazanskaia and E.I. Rogaev

    Version of Record online : 16 JUN 1999, DOI: 10.1002/(SICI)1098-1004(1999)13:6<507::AID-HUMU24>3.0.CO;2-#