Literature DB >> 25471389

Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation.

Kenneth S Kosik1, Claudia Muñoz2, Liliana Lopez2, Mary Luz Arcila2, Gloria García2, Lucía Madrigal2, Sonia Moreno2, Silvia Ríos Romenets2, Hugo Lopez2, Madelyn Gutierrez2, Jessica B Langbaum2, William Cho2, Shehnaaz Suliman2, Pierre N Tariot2, Carole Ho2, Eric M Reiman2, Francisco Lopera2.   

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Year:  2014        PMID： 25471389      PMCID： PMC4336083          DOI： 10.1212/WNL.0000000000001130

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  7 in total

Review 1.  Dominance and homozygosity.

Authors:  J Zlotogora
Journal:  Am J Med Genet       Date:  1997-02-11

2.  Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation.

Authors:  F Lopera; A Ardilla; A Martínez; L Madrigal; J C Arango-Viana; C A Lemere; J C Arango-Lasprilla; L Hincapíe; M Arcos-Burgos; J E Ossa; I M Behrens; J Norton; C Lendon; A M Goate; A Ruiz-Linares; M Rosselli; K S Kosik
Journal:  JAMA       Date:  1997-03-12       Impact factor: 56.272

3.  Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer's disease: a retrospective cohort study.

Authors:  Natalia Acosta-Baena; Diego Sepulveda-Falla; Carlos Mario Lopera-Gómez; Mario César Jaramillo-Elorza; Sonia Moreno; Daniel Camilo Aguirre-Acevedo; Amanda Saldarriaga; Francisco Lopera
Journal:  Lancet Neurol       Date:  2011-02-04       Impact factor: 44.182

Review 4.  Alzheimer's Prevention Initiative: a plan to accelerate the evaluation of presymptomatic treatments.

Authors:  Eric M Reiman; Jessica B S Langbaum; Adam S Fleisher; Richard J Caselli; Kewei Chen; Napatkamon Ayutyanont; Yakeel T Quiroz; Kenneth S Kosik; Francisco Lopera; Pierre N Tariot
Journal:  J Alzheimers Dis       Date:  2011       Impact factor: 4.472

Review 5.  Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease.

Authors:  Bart De Strooper
Journal:  EMBO Rep       Date:  2007-02       Impact factor: 8.807

Review 6.  The Alzheimer's prevention initiative composite cognitive test score: sample size estimates for the evaluation of preclinical Alzheimer's disease treatments in presenilin 1 E280A mutation carriers.

Authors:  Napatkamon Ayutyanont; Jessica B S Langbaum; Suzanne B Hendrix; Kewei Chen; Adam S Fleisher; Michel Friesenhahn; Michael Ward; Camilo Aguirre; Natalia Acosta-Baena; Lucìa Madrigal; Claudia Muñoz; Victoria Tirado; Sonia Moreno; Pierre N Tariot; Francisco Lopera; Eric M Reiman
Journal:  J Clin Psychiatry       Date:  2014-06       Impact factor: 4.384

7.  Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease.

Authors:  Matthew A Lalli; Hannah C Cox; Mary L Arcila; Liliana Cadavid; Sonia Moreno; Gloria Garcia; Lucia Madrigal; Eric M Reiman; Mauricio Arcos-Burgos; Gabriel Bedoya; Mary E Brunkow; Gustavo Glusman; Jared C Roach; Leroy Hood; Kenneth S Kosik; Francisco Lopera
Journal:  Alzheimers Dement       Date:  2013-11-13       Impact factor: 21.566
  7 in total
  7 in total

Review 1.  The Specificity Principle in Acculturation Science.

Authors:  Marc H Bornstein
Journal:  Perspect Psychol Sci       Date:  2017-01

2.  Qualitative changes in human γ-secretase underlie familial Alzheimer's disease.

Authors:  Maria Szaruga; Sarah Veugelen; Manasi Benurwar; Sam Lismont; Diego Sepulveda-Falla; Alberto Lleo; Natalie S Ryan; Tammaryn Lashley; Nick C Fox; Shigeo Murayama; Harrie Gijsen; Bart De Strooper; Lucía Chávez-Gutiérrez
Journal:  J Exp Med       Date:  2015-10-19       Impact factor: 14.307

Review 3.  New Insights into the Molecular Bases of Familial Alzheimer's Disease.

Authors:  Valeria D'Argenio; Daniela Sarnataro
Journal:  J Pers Med       Date:  2020-04-19

Review 4.  Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants.

Authors:  Julie Hoogmartens; Rita Cacace; Christine Van Broeckhoven
Journal:  Alzheimers Dement (Amst)       Date:  2021-02-20

Review 5.  The Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat): Driving Multicentric Research and Implementation Science.

Authors:  Agustin Ibanez; Jennifer S Yokoyama; Katherine L Possin; Diana Matallana; Francisco Lopera; Ricardo Nitrini; Leonel T Takada; Nilton Custodio; Ana Luisa Sosa Ortiz; José Alberto Avila-Funes; Maria Isabel Behrens; Andrea Slachevsky; Richard M Myers; J Nicholas Cochran; Luis Ignacio Brusco; Martin A Bruno; Sonia M D Brucki; Stefanie Danielle Pina-Escudero; Maira Okada de Oliveira; Patricio Donnelly Kehoe; Adolfo M Garcia; Juan Felipe Cardona; Hernando Santamaria-Garcia; Sebastian Moguilner; Claudia Duran-Aniotz; Enzo Tagliazucchi; Marcelo Maito; Erika Mariana Longoria Ibarrola; Maritza Pintado-Caipa; Maria Eugenia Godoy; Vera Bakman; Shireen Javandel; Kenneth S Kosik; Victor Valcour; Bruce L Miller
Journal:  Front Neurol       Date:  2021-03-11       Impact factor: 4.003

6.  The Alzheimer's Prevention Initiative Autosomal-Dominant Alzheimer's Disease Trial: A study of crenezumab versus placebo in preclinical PSEN1 E280A mutation carriers to evaluate efficacy and safety in the treatment of autosomal-dominant Alzheimer's disease, including a placebo-treated noncarrier cohort.

Authors:  Pierre N Tariot; Francisco Lopera; Jessica B Langbaum; Ronald G Thomas; Suzanne Hendrix; Lon S Schneider; Silvia Rios-Romenets; Margarita Giraldo; Natalia Acosta; Carlos Tobon; Claudia Ramos; Alejandro Espinosa; William Cho; Michael Ward; David Clayton; Michael Friesenhahn; Howard Mackey; Lee Honigberg; Sandra Sanabria Bohorquez; Kewei Chen; Trisha Walsh; Carolyn Langlois; Eric M Reiman
Journal:  Alzheimers Dement (N Y)       Date:  2018-03-08

7.  Baseline demographic, clinical, and cognitive characteristics of the Alzheimer's Prevention Initiative (API) Autosomal-Dominant Alzheimer's Disease Colombia Trial.

Authors:  Silvia Rios-Romenets; Francisco Lopera; Kaycee M Sink; Nan Hu; Qinshu Lian; Heather Guthrie; Jillian Smith; William Cho; Howard Mackey; Jessica B Langbaum; Ronald G Thomas; Margarita Giraldo-Chica; Carlos Tobon; Natalia Acosta-Baena; Claudia Muñoz; Paula Ospina; Victoria Tirado; Eliana Henao; Yamile Bocanegra; Kewei Chen; Yi Su; Dhruman Goradia; Pradeep Thiyyagura; Paul S VanGilder; Ji Luo; Valentina Ghisays; Wendy Lee; Michael H Malek-Ahmadi; Hillary D Protas; Yinghua Chen; Yakeel T Quiroz; Eric M Reiman; Pierre N Tariot
Journal:  Alzheimers Dement       Date:  2020-05-17       Impact factor: 21.566
  7 in total

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