Literature DB >> 11561050

Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile).

N Sodeyama, T Iwata, K Ishikawa, H Mizusawa, M Yamada, Y Itoh, E Otomo, M Matsushita, Y Komatsuzaki.   

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Year:  2001        PMID： 11561050      PMCID： PMC1763524          DOI： 10.1136/jnnp.71.4.556

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  10 in total

Review 1.  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

2.  Cleavage of amyloid precursor protein by an archaeal presenilin homologue PSH.

Authors:  Shangyu Dang; Shenjie Wu; Jiawei Wang; Hongbo Li; Min Huang; Wei He; Yue-Ming Li; Catherine C L Wong; Yigong Shi
Journal:  Proc Natl Acad Sci U S A       Date:  2015-03-02       Impact factor: 11.205

3.  A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman.

Authors:  Simon Kang Seng Ting; Tammie Benzinger; Vladimir Kepe; Anne Fagan; Giovanni Coppola; Verna Porter; Silva Hecimovic; Suma Chakraverty; Ana Isabel Alvarez-Retuerto; Alison Goate; John M Ringman
Journal:  J Alzheimers Dis       Date:  2014       Impact factor: 4.472

4.  Conformational Dynamics of Transmembrane Domain 3 of Presenilin 1 Is Associated with the Trimming Activity of γ-Secretase.

Authors:  Tetsuo Cai; Kanan Morishima; Shizuka Takagi-Niidome; Aya Tominaga; Taisuke Tomita
Journal:  J Neurosci       Date:  2019-09-16       Impact factor: 6.167

Review 5.  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 6.  Clinical genetics of Alzheimer's disease.

Authors:  Zhangyu Zou; Changyun Liu; Chunhui Che; Huapin Huang
Journal:  Biomed Res Int       Date:  2014-05-13       Impact factor: 3.411

Review 7.  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

8.  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.  Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.

Authors:  Viorica Chelban; Marianthi Breza; Maria Szaruga; Jana Vandrovcova; David Murphy; Chia-Ju Lee; Sondos Alikhwan; Thomas Bourinaris; George Vavougios; Muhammad Ilyas; Sobia Ahsan Halim; Ahmed Al-Harrasi; Chrisoula Kartanou; Coras Ronald; Ingmar Blumcke; Athanasia Alexoudi; Stylianos Gatzonis; Leonidas Stefanis; Georgia Karadima; Nicholas W Wood; Lucía Chávez-Gutiérrez; John Hardy; Henry Houlden; Georgios Koutsis
Journal:  Alzheimers Dement (Amst)       Date:  2021-05-02

Review 10.  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
  10 in total

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