✦ LIBER ✦

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1

✍ Scribed by Crook, Richard; Verkkoniemi, Auli; Perez-Tur, Jordi; Mehta, Nitin; Baker, Matt; Houlden, Henry; Farrer, Matt; Hutton, Mike; Lincoln, Sarah; Hardy, John

Book ID: 109928217
Publisher: Nature Publishing Group
Year: 1998
Tongue: English
Weight: 586 KB
Volume: 4
Category: Article
ISSN: 1078-8956
DOI: 10.1038/nm0498-452

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

High A42 causing presenilin 1 mutations

High A42 causing presenilin 1 mutations lead to the cotton wool plaques/spastic paraparesis variant of Alzheimer's disease

✍ John A. Hardy; Henry Houlden; Matthew Baker; Eileen McGowan; Patrick Lewis; Guy 📂 Article 📅 2000 🏛 Elsevier Science 🌐 English ⚖ 191 KB

Variable presentation of Alzheimer's dis

Variable presentation of Alzheimer's disease and/or spastic paraparesis phenotypes in pedigrees with a novel PS-1 exon 9 gene deletion or exon 9 splice acceptor mutations

✍ John B.J. Kwok; Magaret J. Smith; William S. Brooks; Jillian Kril; Catriona Mcle 📂 Article 📅 2000 🏛 Elsevier Science 🌐 English ⚖ 188 KB

Early-onset familial Alzheimer's disease

Early-onset familial Alzheimer's disease and spastic paraparesis associated with a novel insectional mutation of the presenilin 1 gene

✍ Paolo M. Moretti; Bruno Giordani; Karen J. Kluin; Satoshi Minoshima; David E. Ku 📂 Article 📅 2000 🏛 Elsevier Science 🌐 English ⚖ 190 KB

Increased Aβ 42(43)-plaque deposition in

Increased Aβ 42(43)-plaque deposition in early-onset familial Alzheimer's disease brains with the deletion of exon 9 and the missense point mutation (H163R) in the PS-1 gene

✍ K Ishii; K Ii; T Hasegawa; S Shoji; A Doi; H Mori 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 224 KB

P4-052 Screening of mutations in exons 5

P4-052 Screening of mutations in exons 5 and 8 of the presenilin-1 gene in a Colombian sample with early onset Alzheimer's disease

✍ Arboleda, Humberto; Duarte, Nidia; Lozano, Johanna; Pena, Marta; Dalila, Camelo; 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 282 KB

443 Characterization of presenilin 1 (PS

443 Characterization of presenilin 1 (PS1) with mutations linked to familial Alzheimer's disease: Metabolism, topology and influence on Aβ generation

✍ G. Thinakaran; A. Doan; M.K. Lee; H.H. Slunt; M. Savage; B. Greenberg; R. Wang; 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 139 KB