Literature DB >> 8538334

Mutation analysis of presenillin 1 gene in Alzheimer's disease.

K Boteva, M Vitek, H Mitsuda, H de Silva, P T Xu, G Small, J R Gilbert.   

Abstract

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Year:  1996        PMID： 8538334     DOI： 10.1016/s0140-6736(96)90261-5

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


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  10 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

Review 2.  Genetics, transcriptomics, and proteomics of Alzheimer's disease.

Authors:  Andreas Papassotiropoulos; Michael Fountoulakis; Travis Dunckley; Dietrich A Stephan; Eric M Reiman
Journal:  J Clin Psychiatry       Date:  2006-04       Impact factor: 4.384

Review 3.  The role of the amyloid protein precursor (APP) in Alzheimer's disease: does the normal function of APP explain the topography of neurodegeneration?

Authors:  D H Small
Journal:  Neurochem Res       Date:  1998-05       Impact factor: 3.996

4.  Expression of presenilin 1 and 2 (PS1 and PS2) in human and murine tissues.

Authors:  M K Lee; H H Slunt; L J Martin; G Thinakaran; G Kim; S E Gandy; M Seeger; E Koo; D L Price; S S Sisodia
Journal:  J Neurosci       Date:  1996-12-01       Impact factor: 6.167

5.  Presenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer's disease: clinical characteristics and genetic identification.

Authors:  Hee-Jin Kim; Hyun Young Kim; Chang-Seok Ki; Seung Hyun Kim
Journal:  Neurol Sci       Date:  2010-03-06       Impact factor: 3.307

6.  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

7.  The Alzheimer's disease-associated presenilins are differentially phosphorylated proteins located predominantly within the endoplasmic reticulum.

Authors:  J Walter; A Capell; J Grünberg; B Pesold; A Schindzielorz; R Prior; M B Podlisny; P Fraser; P S Hyslop; D J Selkoe; C Haass
Journal:  Mol Med       Date:  1996-11       Impact factor: 6.354

Review 8.  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

9.  Increased apoptosis arising from increased expression of the Alzheimer's disease-associated presenilin-2 mutation (N141I).

Authors:  S Janicki; M J Monteiro
Journal:  J Cell Biol       Date:  1997-10-20       Impact factor: 10.539

Review 10.  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
  10 in total

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