Literature DB >> 19430857

A novel presenilin 1 mutation (L282F) in familial Alzheimer's disease.

Tsuyoshi Hamaguchi, Akiyoshi Morinaga, Tamao Tsukie, Ryozo Kuwano, Masahito Yamada.   

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Year:  2009        PMID： 19430857     DOI： 10.1007/s00415-009-5154-y

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  9 in total

1.  Longitudinal PET Evaluation of Cerebral Metabolic Decline in Dementia: A Potential Outcome Measure in Alzheimer's Disease Treatment Studies.

Authors:  Gene E Alexander; Kewei Chen; Pietro Pietrini; Stanley I Rapoport; Eric M Reiman
Journal:  Am J Psychiatry       Date:  2002-05       Impact factor: 18.112

2.  A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease.

Authors:  Atsushi Ishikawa; Yue-Shan Piao; Akinori Miyashita; Ryozo Kuwano; Osamu Onodera; Hiroaki Ohtake; Masahiro Suzuki; Masatoyo Nishizawa; Hitoshi Takahashi
Journal:  Ann Neurol       Date:  2005-03       Impact factor: 10.422

3.  Metabolic reduction in the posterior cingulate cortex in very early Alzheimer's disease.

Authors:  S Minoshima; B Giordani; S Berent; K A Frey; N L Foster; D E Kuhl
Journal:  Ann Neurol       Date:  1997-07       Impact factor: 10.422

Review 4.  Molecular genetics of Alzheimer's disease: the role of beta-amyloid and the presenilins.

Authors:  A Tandon; E Rogaeva; M Mullan; P H St George-Hyslop
Journal:  Curr Opin Neurol       Date:  2000-08       Impact factor: 5.710

5.  A novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer's disease.

Authors:  R Pantieri; M Pardini; M Cecconi; F Dagna-Bricarelli; A Vitali; A Piccini; R Russo; R Borghi; M Tabaton
Journal:  Neurol Sci       Date:  2005-12       Impact factor: 3.307

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

Authors:  J Aldudo; M J Bullido; T Arbizu; R Oliva; F Valdivieso
Journal:  Neurosci Lett       Date:  1998-01-16       Impact factor: 3.046

7.  Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation.

Authors:  B Dermaut; S Kumar-Singh; C De Jonghe; M Cruts; A Löfgren; U Lübke; P Cras; R Dom; P P De Deyn; J J Martin; C Van Broeckhoven
Journal:  Brain       Date:  2001-12       Impact factor: 13.501

8.  Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease.

Authors:  G McKhann; D Drachman; M Folstein; R Katzman; D Price; E M Stadlan
Journal:  Neurology       Date:  1984-07       Impact factor: 9.910

9.  A new amyloid beta variant favoring oligomerization in Alzheimer's-type dementia.

Authors:  Takami Tomiyama; Tetsu Nagata; Hiroyuki Shimada; Rie Teraoka; Akiko Fukushima; Hyoue Kanemitsu; Hiroshi Takuma; Ryozo Kuwano; Masaki Imagawa; Suzuka Ataka; Yasuhiro Wada; Eito Yoshioka; Tomoyuki Nishizaki; Yasuyoshi Watanabe; Hiroshi Mori
Journal:  Ann Neurol       Date:  2008-03       Impact factor: 10.422
  9 in total
  4 in total

1.  Presenilin Is Essential for ApoE Secretion, a Novel Role of Presenilin Involved in Alzheimer's Disease Pathogenesis.

Authors:  Sadequl Islam; Yang Sun; Yuan Gao; Tomohisa Nakamura; Arshad Ali Noorani; Tong Li; Philip C Wong; Noriyuki Kimura; Etsuro Matsubara; Kensaku Kasuga; Takeshi Ikeuchi; Taisuke Tomita; Kun Zou; Makoto Michikawa
Journal:  J Neurosci       Date:  2022-01-05       Impact factor: 6.709

Review 2.  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

3.  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

Review 4.  The genetics of Alzheimer's disease.

Authors:  Eva Bagyinszky; Young Chul Youn; Seong Soo A An; SangYun Kim
Journal:  Clin Interv Aging       Date:  2014-04-01       Impact factor: 4.458
  4 in total

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