Literature DB >> 11836371

Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease.

M L Jacquemont1, D Campion, V Hahn, C Tallaksen, T Frebourg, A Brice, A Durr.   

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Year:  2002        PMID： 11836371      PMCID： PMC1735046          DOI： 10.1136/jmg.39.2.e2

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  8 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.  Difficult case of a rare form of familial Alzheimer's disease with PSEN1 P117L mutation.

Authors:  Ana Luísa Rocha; Andreia Costa; Maria Carolina Garrett; Joana Meireles
Journal:  BMJ Case Rep       Date:  2018-12-13

Review 3.  Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis.

Authors:  Charlene Supnet; Ilya Bezprozvanny
Journal:  Cell Calcium       Date:  2011-06-12       Impact factor: 6.817

4.  Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.

Authors:  Omar Nelson; Charlene Supnet; Huarui Liu; Ilya Bezprozvanny
Journal:  J Alzheimers Dis       Date:  2010       Impact factor: 4.472

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.  The genes associated with early-onset Alzheimer's disease.

Authors:  Meng-Hui Dai; Hui Zheng; Ling-Dan Zeng; Yan Zhang
Journal:  Oncotarget       Date:  2017-12-15

7.  A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.

Authors:  Juliana Acosta-Uribe; David Aguillón; Francisco Lopera; Kenneth S Kosik; J Nicholas Cochran; Margarita Giraldo; Lucía Madrigal; Bradley W Killingsworth; Rijul Singhal; Sarah Labib; Diana Alzate; Lina Velilla; Sonia Moreno; Gloria P García; Amanda Saldarriaga; Francisco Piedrahita; Liliana Hincapié; Hugo E López; Nithesh Perumal; Leonilde Morelo; Dionis Vallejo; Juan Marcos Solano; Eric M Reiman; Ezequiel I Surace; Tatiana Itzcovich; Ricardo Allegri; Raquel Sánchez-Valle; Andrés Villegas-Lanau; Charles L White; Diana Matallana; Richard M Myers; Sharon R Browning
Journal:  Genome Med       Date:  2022-03-08       Impact factor: 15.266

8.  The presenilin 1 P264L mutation presenting as non-fluent/agrammatic primary progressive aphasia.

Authors:  Colin J Mahoney; Laura E Downey; Jon Beck; Yuying Liang; Simon Mead; Richard J Perry; Jason D Warren
Journal:  J Alzheimers Dis       Date:  2013       Impact factor: 4.472
  8 in total

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