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Literature DB >> 27329738

Rare variants in dementia genes and Parkinson's disease.

Zafar Iqbal¹, Lasse Pihlstrøm^1,2, Aina Rengmark¹, Sandra Pilar Henriksen¹, Jan Linder³, Lars Forsgren³, Mathias Toft¹.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2016 PMID： 27329738 PMCID： PMC5117929 DOI： 10.1038/ejhg.2016.79

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

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References

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10 in total

1. Rare-variant association testing for sequencing data with the sequence kernel association test.

Authors: Michael C Wu; Seunggeun Lee; Tianxi Cai; Yun Li; Michael Boehnke; Xihong Lin
Journal: Am J Hum Genet Date: 2011-07-07 Impact factor: 11.025

2. A mutation in APP protects against Alzheimer's disease and age-related cognitive decline.

Authors: Thorlakur Jonsson; Jasvinder K Atwal; Stacy Steinberg; Jon Snaedal; Palmi V Jonsson; Sigurbjorn Bjornsson; Hreinn Stefansson; Patrick Sulem; Daniel Gudbjartsson; Janice Maloney; Kwame Hoyte; Amy Gustafson; Yichin Liu; Yanmei Lu; Tushar Bhangale; Robert R Graham; Johanna Huttenlocher; Gyda Bjornsdottir; Ole A Andreassen; Erik G Jönsson; Aarno Palotie; Timothy W Behrens; Olafur T Magnusson; Augustine Kong; Unnur Thorsteinsdottir; Ryan J Watts; Kari Stefansson
Journal: Nature Date: 2012-08-02 Impact factor: 49.962

3. Molecular mechanisms of Alzheimer disease protection by the A673T allele of amyloid precursor protein.

Authors: Janice A Maloney; Travis Bainbridge; Amy Gustafson; Shuo Zhang; Roxanne Kyauk; Pascal Steiner; Marcel van der Brug; Yichin Liu; James A Ernst; Ryan J Watts; Jasvinder K Atwal
Journal: J Biol Chem Date: 2014-09-24 Impact factor: 5.157

4. The Alzheimer disease protective mutation A2T modulates kinetic and thermodynamic properties of amyloid-β (Aβ) aggregation.

Authors: Iryna Benilova; Rodrigo Gallardo; Andreea-Alexandra Ungureanu; Virginia Castillo Cano; An Snellinx; Meine Ramakers; Carmen Bartic; Frederic Rousseau; Joost Schymkowitz; Bart De Strooper
Journal: J Biol Chem Date: 2014-09-24 Impact factor: 5.157

Review 5. [Genetic factors associated with dementia in Parkinson's disease (PD)].

Authors: Diego Romo-Gutiérrez; Petra Yescas; Marisol López-López; Marie-Catherine Boll
Journal: Gac Med Mex Date: 2015 Jan-Feb Impact factor: 0.302

6. Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.

Authors: Eva C Schulte; Akio Fukumori; Brit Mollenhauer; Hyun Hor; Thomas Arzberger; Robert Perneczky; Alexander Kurz; Janine Diehl-Schmid; Michael Hüll; Peter Lichtner; Gertrud Eckstein; Alexander Zimprich; Dietrich Haubenberger; Walter Pirker; Thomas Brücke; Benjamin Bereznai; Maria J Molnar; Oswaldo Lorenzo-Betancor; Pau Pastor; Annette Peters; Christian Gieger; Xavier Estivill; Thomas Meitinger; Hans A Kretzschmar; Claudia Trenkwalder; Christian Haass; Juliane Winkelmann
Journal: Eur J Hum Genet Date: 2015-01-21 Impact factor: 4.246

Rare variants in dementia genes and Parkinson's disease.

1. Rare-variant association testing for sequencing data with the sequence kernel association test.

2. A mutation in APP protects against Alzheimer's disease and age-related cognitive decline.

3. Molecular mechanisms of Alzheimer disease protection by the A673T allele of amyloid precursor protein.

4. The Alzheimer disease protective mutation A2T modulates kinetic and thermodynamic properties of amyloid-β (Aβ) aggregation.

Review 5. [Genetic factors associated with dementia in Parkinson's disease (PD)].

6. Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.

7. The Sydney multicenter study of Parkinson's disease: the inevitability of dementia at 20 years.

8. Effective variant detection by targeted deep sequencing of DNA pools: an example from Parkinson's disease.

9. A general framework for estimating the relative pathogenicity of human genetic variants.

10. Locus-specific mutation databases for neurodegenerative brain diseases.