Literature DB >> 18350357

Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism.

Livia Bernardi, Carmine Tomaino, Maria Anfossi, Maura Gallo, Silvana Geracitano, Gianfranco Puccio, Rosanna Colao, Francesca Frangipane, Maria Mirabelli, Nicoletta Smirne, Raffaele Giovanni Maletta, Amalia C Bruni.   

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Year:  2008        PMID： 18350357     DOI： 10.1007/s00415-008-0764-3

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


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  10 in total

1.  Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios.

Authors:  Emily S Walker; Maribel Martinez; Anne L Brunkan; Alison Goate
Journal:  J Neurochem       Date:  2005-01       Impact factor: 5.372

2.  The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease.

Authors:  B Dermaut; M Cruts; A J Slooter; S Van Gestel; C De Jonghe; H Vanderstichele; E Vanmechelen; M M Breteler; A Hofman; C M van Duijn; C Van Broeckhoven
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025

3.  Familial Alzheimer's disease: site of mutation influences clinical phenotype.

Authors:  C F Lippa; J M Swearer; K J Kane; D Nochlin; T D Bird; B Ghetti; L E Nee; P St George-Hyslop; D A Pollen; D A Drachman
Journal:  Ann Neurol       Date:  2000-09       Impact factor: 10.422

4.  Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.

Authors:  M Cruts; C M van Duijn; H Backhovens; M Van den Broeck; A Wehnert; S Serneels; R Sherrington; M Hutton; J Hardy; P H St George-Hyslop; A Hofman; C Van Broeckhoven
Journal:  Hum Mol Genet       Date:  1998-01       Impact factor: 6.150

5.  Presenilin-1 mutation E318G and familial Alzheimer's disease in the Italian population.

Authors:  Diego Albani; Ignazio Roiter; Vladimiro Artuso; Sara Batelli; Francesca Prato; Marzia Pesaresi; Daniela Galimberti; Elio Scarpini; Amalia Bruni; Massimo Franceschi; Maria Rita Piras; Annamaria Confaloni; Gianluigi Forloni
Journal:  Neurobiol Aging       Date:  2006-09-06       Impact factor: 4.673

6.  Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.

Authors:  A Goate; M C Chartier-Harlin; M Mullan; J Brown; F Crawford; L Fidani; L Giuffra; A Haynes; N Irving; L James
Journal:  Nature       Date:  1991-02-21       Impact factor: 49.962

7.  Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.

Authors:  R Sherrington; S Froelich; S Sorbi; D Campion; H Chi; E A Rogaeva; G Levesque; E I Rogaev; C Lin; Y Liang; M Ikeda; L Mar; A Brice; Y Agid; M E Percy; F Clerget-Darpoux; S Piacentini; G Marcon; B Nacmias; L Amaducci; T Frebourg; L Lannfelt; J M Rommens; P H St George-Hyslop
Journal:  Hum Mol Genet       Date:  1996-07       Impact factor: 6.150

8.  Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.

Authors:  E I Rogaev; R Sherrington; E A Rogaeva; G Levesque; M Ikeda; Y Liang; H Chi; C Lin; K Holman; T Tsuda
Journal:  Nature       Date:  1995-08-31       Impact factor: 49.962

9.  Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease.

Authors:  M Hutton; F Busfield; M Wragg; R Crook; J Perez-Tur; R F Clark; G Prihar; C Talbot; H Phillips; K Wright; M Baker; C Lendon; K Duff; A Martinez; H Houlden; A Nichols; E Karran; G Roberts; P Roques; M Rossor; J C Venter; M D Adams; R T Cline; C A Phillips; A Goate
Journal:  Neuroreport       Date:  1996-02-29       Impact factor: 1.837

10.  Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population.

Authors:  K Taddei; C Fisher; S M Laws; G Martins; A Paton; R M Clarnette; C Chung; W S Brooks; J Hallmayer; J Miklossy; N Relkin; P H St George-Hyslop; S E Gandy; R N Martins
Journal:  Mol Psychiatry       Date:  2002       Impact factor: 15.992
  10 in total
  6 in total

1.  Estimation and visualization of identity-by-descent within pedigrees simplifies interpretation of complex trait analysis.

Authors:  Elizabeth E Marchani; Ellen M Wijsman
Journal:  Hum Hered       Date:  2011-12-23       Impact factor: 0.444

2.  Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.

Authors:  Suman Jayadev; James B Leverenz; Ellen Steinbart; Justin Stahl; William Klunk; Cheng-En Yu; Thomas D Bird
Journal:  Brain       Date:  2010-04       Impact factor: 13.501

Review 3.  MicroRNAs in the brain: it's regulatory role in neuroinflammation.

Authors:  Menaka C Thounaojam; Deepak K Kaushik; Anirban Basu
Journal:  Mol Neurobiol       Date:  2013-01-12       Impact factor: 5.590

Review 4.  Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.

Authors:  Yan Cai; Seong Soo A An; SangYun Kim
Journal:  Clin Interv Aging       Date:  2015-07-14       Impact factor: 4.458

5.  MicroRNA: Implications for Alzheimer Disease and other Human CNS Disorders.

Authors:  Olivier C Maes; Howard M Chertkow; Eugenia Wang; Hyman M Schipper
Journal:  Curr Genomics       Date:  2009-05       Impact factor: 2.236

Review 6.  The Genetics of Alzheimer's Disease in the Chinese Population.

Authors:  Chen-Ling Gan; Tao Zhang; Tae Ho Lee
Journal:  Int J Mol Sci       Date:  2020-03-30       Impact factor: 5.923
  6 in total

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