Literature DB >> 7623585

Missense mutation of S182 gene in Japanese familial Alzheimer's disease.

H Tanahashi, Y Mitsunaga, K Takahashi, H Tasaki, S Watanabe, T Tabira.   

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Year:  1995        PMID： 7623585     DOI： 10.1016/s0140-6736(95)92810-3

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  9 in total

1.  Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.

Authors:  Ebba Lohmann; Rita J Guerreiro; Nihan Erginel-Unaltuna; Nicole Gurunlian; Basar Bilgic; Hakan Gurvit; Hasmet A Hanagasi; Nga Luu; Murat Emre; Andrew Singleton
Journal:  Neurobiol Aging       Date:  2012-04-13       Impact factor: 4.673

2.  Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene.

Authors:  R J Harvey; D Ellison; J Hardy; M Hutton; P K Roques; J Collinge; N C Fox; M N Rossor
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-01       Impact factor: 10.154

3.  Structure nor stability of the transmembrane spanning 6/7 domain of presenilin I correlates with pathogenicity.

Authors:  Brian Jeppesen; Laura Costello; Adam Fung; Erin Stanley; Jessica McDonald; Abbie Lambert; Bennett Johnson; Lisa Gentile
Journal:  Biochem Biophys Res Commun       Date:  2007-02-15       Impact factor: 3.575

4.  Widespread neuronal expression of the presenilin-1 early-onset Alzheimer's disease gene in the murine brain.

Authors:  D H Cribbs; L S Chen; S M Bende; F M LaFerla
Journal:  Am J Pathol       Date:  1996-06       Impact factor: 4.307

5.  In situ hybridization analysis of presenilin 1 mRNA in Alzheimer disease and in lesioned rat brain.

Authors:  K Page; R Hollister; R E Tanzi; B T Hyman
Journal:  Proc Natl Acad Sci U S A       Date:  1996-11-26       Impact factor: 11.205

6.  Expression and analysis of presenilin 1 in a human neuronal system: localization in cell bodies and dendrites.

Authors:  D G Cook; J C Sung; T E Golde; K M Felsenstein; B S Wojczyk; R E Tanzi; J Q Trojanowski; V M Lee; R W Doms
Journal:  Proc Natl Acad Sci U S A       Date:  1996-08-20       Impact factor: 11.205

Review 7.  Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.

Authors:  A J Larner; M Doran
Journal:  J Neurol       Date:  2005-11-04       Impact factor: 6.682

Review 8.  Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Authors:  Eva Bagyinszky; Young Chul Youn; Seong Soo A An; SangYun Kim
Journal:  Clin Interv Aging       Date:  2016-10-17       Impact factor: 4.458

9.  APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

Authors:  Vo Van Giau; Eva Bagyinszky; Young Chul Youn; Seong Soo A An; SangYun Kim
Journal:  Int J Mol Sci       Date:  2019-09-25       Impact factor: 5.923
  9 in total

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