Literature DB >> 17968601

Familial cases presenting very early onset autosomal dominant Alzheimer's disease with I143T in presenilin-1 gene: implication for genotype-phenotype correlation.

Noritoshi Arai, Atsushi Kishino, Yuji Takahashi, Daiji Morita, Koichiro Nakamura, Takahiro Yokoyama, Tomoji Watanabe, Masayoshi Ida, Jun Goto, Shoji Tsuji.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2007        PMID： 17968601     DOI： 10.1007/s10048-007-0104-2

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


× No keyword cloud information.
  8 in total

1.  New developments in high-throughput resequencing and variation detection using high density microarrays.

Authors:  Janet A Warrington; Nila A Shah; Xiyin Chen; Michael Janis; Chunmei Liu; Sangeetha Kondapalli; Vivian Reyes; Michael P Savage; Zhaomei Zhang; Richard Watts; Maria DeGuzman; Anthony Berno; Jim Snyder; Jyoti Baid
Journal:  Hum Mutat       Date:  2002-04       Impact factor: 4.878

2.  Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease.

Authors:  D M Mann; S M Pickering-Brown; A Takeuchi; T Iwatsubo
Journal:  Am J Pathol       Date:  2001-06       Impact factor: 4.307

3.  Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK. Mutations in brief no. 223. Online.

Authors:  M S Palmer; J A Beck; T A Campbell; C B Humphries; P K Roques; N C Fox; R Harvey; M N Rossor; J Collinge
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

4.  Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.

Authors:  D Arango; M Cruts; O Torres; H Backhovens; M L Serrano; E Villareal; P Montañes; D Matallana; C Cano; C Van Broeckhoven; M Jacquier
Journal:  Am J Med Genet       Date:  2001-10-01

5.  Enhancement of amyloid beta 42 secretion by 28 different presenilin 1 mutations of familial Alzheimer's disease.

Authors:  O Murayama; T Tomita; N Nihonmatsu; M Murayama; X Sun; T Honda; T Iwatsubo; A Takashima
Journal:  Neurosci Lett       Date:  1999-04-09       Impact factor: 3.046

6.  Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.

Authors:  G Raux; L Guyant-Maréchal; C Martin; J Bou; C Penet; A Brice; D Hannequin; T Frebourg; D Campion
Journal:  J Med Genet       Date:  2005-07-20       Impact factor: 6.318

7.  Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease.

Authors:  Jeannine M Heckmann; Wee-Chuang Low; Cora de Villiers; Stuart Rutherfoord; Alvera Vorster; Harpal Rao; Christopher M Morris; Raj S Ramesar; Raj N Kalaria
Journal:  Brain       Date:  2003-10-21       Impact factor: 13.501

8.  Early-onset Alzheimer's disease in 2 large Belgian families.

Authors:  J J Martin; J Gheuens; M Bruyland; P Cras; A Vandenberghe; C L Masters; K Beyreuther; R Dom; C Ceuterick; U Lübke
Journal:  Neurology       Date:  1991-01       Impact factor: 9.910
  8 in total
  5 in total

1.  Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.

Authors:  Hiroyuki Ishiura; Yuji Takahashi; Toshihiro Hayashi; Kayoko Saito; Hirokazu Furuya; Mitsunori Watanabe; Miho Murata; Mikiya Suzuki; Akira Sugiura; Setsu Sawai; Kazumoto Shibuya; Naohisa Ueda; Yaeko Ichikawa; Ichiro Kanazawa; Jun Goto; Shoji Tsuji
Journal:  J Hum Genet       Date:  2014-01-23       Impact factor: 3.172

2.  The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions.

Authors:  Lina Keller; Hedvig Welander; Huei-Hsin Chiang; Lars O Tjernberg; Inger Nennesmo; Asa K Wallin; Caroline Graff
Journal:  Eur J Hum Genet       Date:  2010-07-14       Impact factor: 4.246

Review 3.  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

4.  The Whole Exome Sequencing Clarifies the Genotype- Phenotype Correlations in Patients with Early-Onset Dementia.

Authors:  Yangqi Xu; Xiaoli Liu; Junyi Shen; Wotu Tian; Rong Fang; Binyin Li; Jianfang Ma; Li Cao; Shengdi Chen; Guanjun Li; Huidong Tang
Journal:  Aging Dis       Date:  2018-08-01       Impact factor: 6.745

5.  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
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.