✦ LIBER ✦

Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the volga German presenilin-2 mutation

✍ Scribed by Richard Crook; Ronald Ellis; Megan Shanks; Leon J. Thal; Jordi Perez-Tur; Matt Baker; Mike Hutton; Tuomas Haltia; Dr. John Hardy; Douglas Galasko

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 491 KB
Volume: 42
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.410420121

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel presenilin 1 missense mutation (

A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease

✍ G. Raux; R. Gantier; C. Martin; Y. Pothin; A. Brice; T. Frebourg; D. Campion 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 2 views

Pathogenic presenilin 1 mutations (P436S

Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK

✍ Mark S. Palmer; Jonathan A. Beck; Tracy A. Campbell; Christine B. Humphries; Pen 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 61 KB

Familial Alzheimer's disease (AD) is an autosomal dominant disorder characterized by memory impairment and multiple cognitive deficits which occurs in mid to late life. Early onset AD has been associated with mutations in three genes, of which presenilin 1 (PS1) mutations are the most frequent. We s

Missense mutation in exon 11 (codon 378)

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

✍ Roger Besançon; Alberta Lorenzi; Marc Cruts; Sandrine Radawiec; Franck Sturtz; E 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 69 KB 👁 2 views

Mutations in the presenilin-1 (PS1) gene account for the majority of familial early-onset Alzheimer's disease (EOAD) cases. We screened the coding part of the PS1 gene for the presence of mutations in a French family with EOAD, using single strand conformation polymorphism (SSCP) analysis. Patients

A novel missense mutation (G209R) in exo

A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease

✍ Naoya Sugiyama; Kyoko Suzuki; Takehiko Matsumura; Chiaki Kawanishi; Hideki Onish 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB 👁 1 views

Over fifty missense mutations in the presenilin-1 (PSEN1) gene have been reported in families with presenile familial Alzheimer's disease (FAD). We describe a novel missense mutation (G209R) within the predicted fourth transmembrane domain of the PSEN1 in a Japanese family with presenile FAD. The af