✦ LIBER ✦

Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life

✍ Scribed by John S.K. Kauwe; Jun Wang; Sumi Chakraverty; Alison M. Goate; Andres F. Henao-Martinez

Book ID: 116770386
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 299 KB
Volume: 438
Category: Article
ISSN: 0304-3940
DOI: 10.1016/j.neulet.2008.04.029

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

Identification of a Novel Mutation in th

Identification of a Novel Mutation in the Presenilin 1 Gene in a Chinese Alzheimer’s Disease Family

✍ Deng, Bo; Lian, Yan; Wang, Xin; Zeng, Fan; Jiao, Bin; Wang, Ye-Ran; Liang, Chun- 📂 Article 📅 2014 🏛 Springer-Verlag 🌐 English ⚖ 1018 KB

Identification of a novel mutation (Leu2

Identification of a novel mutation (Leu282Arg) of the human presenilin 1 gene in Alzheimer's disease

✍ Jesús Aldudo; Marı́a J Bullido; Txomin Arbizu; Rafael Oliva; Fernando Valdivieso 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 119 KB

Founder effect for the Ala431Glu mutatio

Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer’s disease in Mexican families

✍ Petra Yescas; Adriana Huertas-Vazquez; María Teresa Villarreal-Molina; Astrid Ra 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 121 KB

Incomplete penetrance of familial Alzhei

Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin-1 gene mutation

✍ M.N. Rossor; N.C. Fox; J. Beck; T.C. Campbell; J. Collinge 📂 Article 📅 1996 🏛 The Lancet 🌐 English ⚖ 191 KB

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 👁 2 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