Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation.

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Title: Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation.
Authors: Kosik KS; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA. kenneth.kosik@lifesci.ucsb.edu., Muñoz C; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA., Lopez L; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA., Arcila ML; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA., García G; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA., Madrigal L; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA., Moreno S; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA., Ríos Romenets S; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA., Lopez H; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA., Gutierrez M; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA., Langbaum JB; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA., Cho W; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA., Suliman S; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA., Tariot PN; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA., Ho C; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA., Reiman EM; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA., Lopera F; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.
Source: Neurology [Neurology] 2015 Jan 13; Vol. 84 (2), pp. 206-8. Date of Electronic Publication: 2014 Dec 03.
Publication Type: Journal Article
Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation.
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  Data: <searchLink fieldCode="AU" term="%22Kosik+KS%22">Kosik KS</searchLink>; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA. kenneth.kosik@lifesci.ucsb.edu.<br /><searchLink fieldCode="AU" term="%22Muñoz+C%22">Muñoz C</searchLink>; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.<br /><searchLink fieldCode="AU" term="%22Lopez+L%22">Lopez L</searchLink>; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.<br /><searchLink fieldCode="AU" term="%22Arcila+ML%22">Arcila ML</searchLink>; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.<br /><searchLink fieldCode="AU" term="%22García+G%22">García G</searchLink>; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.<br /><searchLink fieldCode="AU" term="%22Madrigal+L%22">Madrigal L</searchLink>; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.<br /><searchLink fieldCode="AU" term="%22Moreno+S%22">Moreno S</searchLink>; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.<br /><searchLink fieldCode="AU" term="%22Ríos+Romenets+S%22">Ríos Romenets S</searchLink>; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.<br /><searchLink fieldCode="AU" term="%22Lopez+H%22">Lopez H</searchLink>; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.<br /><searchLink fieldCode="AU" term="%22Gutierrez+M%22">Gutierrez M</searchLink>; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.<br /><searchLink fieldCode="AU" term="%22Langbaum+JB%22">Langbaum JB</searchLink>; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.<br /><searchLink fieldCode="AU" term="%22Cho+W%22">Cho W</searchLink>; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.<br /><searchLink fieldCode="AU" term="%22Suliman+S%22">Suliman S</searchLink>; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.<br /><searchLink fieldCode="AU" term="%22Tariot+PN%22">Tariot PN</searchLink>; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.<br /><searchLink fieldCode="AU" term="%22Ho+C%22">Ho C</searchLink>; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.<br /><searchLink fieldCode="AU" term="%22Reiman+EM%22">Reiman EM</searchLink>; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.<br /><searchLink fieldCode="AU" term="%22Lopera+F%22">Lopera F</searchLink>; From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.
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