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Literature DB >> 22875012

The genetics and neuropathology of neurodegenerative disorders: perspectives and implications for research and clinical practice.

Vivianna M Van Deerlin.

Abstract

Entities: Chemical Disease Gene Mutation Species

Mesh：

Year: 2012 PMID： 22875012 PMCID： PMC3432409 DOI： 10.1007/s00401-012-1032-2

Source DB: PubMed Journal: Acta Neuropathol ISSN： 0001-6322 Impact factor: 17.088

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30 in total

1. 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

2. Performance of mutation pathogenicity prediction methods on missense variants.

Authors: Janita Thusberg; Ayodeji Olatubosun; Mauno Vihinen
Journal: Hum Mutat Date: 2011-02-22 Impact factor: 4.878

3. Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study.

Authors: Roy N Alcalay; Elise Caccappolo; Helen Mejia-Santana; Ming Xin Tang; Llency Rosado; Barbara M Ross; Miguel Verbitsky; Sergey Kisselev; Elan D Louis; Cynthia Comella; Amy Colcher; Danna Jennings; Martha A Nance; Susan B Bressman; William K Scott; Caroline Tanner; Susan Mickel; Howard Andrews; Cheryl Waters; Stanley Fahn; Lucien Cote; Steven Frucht; Blair Ford; Michael Rezak; Kevin Novak; Joseph H Friedman; Ronald Pfeiffer; Laura Marsh; Bradley Hiner; Andrew Siderowf; Ruth Ottman; Karen Marder; Lorraine N Clark
Journal: Arch Neurol Date: 2010-09

4. Improving the rigor of mutation reports: biologic parentage and de novo mutations.

Authors: Leslie Biesecker
Journal: Hum Mutat Date: 2012-07-02 Impact factor: 4.878

5. ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics.

Authors: Olubunmi Abel; John F Powell; Peter M Andersen; Ammar Al-Chalabi
Journal: Hum Mutat Date: 2012-07-16 Impact factor: 4.878

6. A systematic survey of loss-of-function variants in human protein-coding genes.

Authors: Daniel G MacArthur; Suganthi Balasubramanian; Adam Frankish; Ni Huang; James Morris; Klaudia Walter; Luke Jostins; Lukas Habegger; Joseph K Pickrell; Stephen B Montgomery; Cornelis A Albers; Zhengdong D Zhang; Donald F Conrad; Gerton Lunter; Hancheng Zheng; Qasim Ayub; Mark A DePristo; Eric Banks; Min Hu; Robert E Handsaker; Jeffrey A Rosenfeld; Menachem Fromer; Mike Jin; Xinmeng Jasmine Mu; Ekta Khurana; Kai Ye; Mike Kay; Gary Ian Saunders; Marie-Marthe Suner; Toby Hunt; If H A Barnes; Clara Amid; Denise R Carvalho-Silva; Alexandra H Bignell; Catherine Snow; Bryndis Yngvadottir; Suzannah Bumpstead; David N Cooper; Yali Xue; Irene Gallego Romero; Jun Wang; Yingrui Li; Richard A Gibbs; Steven A McCarroll; Emmanouil T Dermitzakis; Jonathan K Pritchard; Jeffrey C Barrett; Jennifer Harrow; Matthew E Hurles; Mark B Gerstein; Chris Tyler-Smith
Journal: Science Date: 2012-02-17 Impact factor: 47.728

Review 7. Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Authors: Karen Nuytemans; Jessie Theuns; Marc Cruts; Christine Van Broeckhoven
Journal: Hum Mutat Date: 2010-07 Impact factor: 4.878

8. Autosomal-dominant Alzheimer's disease: a review and proposal for the prevention of Alzheimer's disease.

Authors: Randall J Bateman; Paul S Aisen; Bart De Strooper; Nick C Fox; Cynthia A Lemere; John M Ringman; Stephen Salloway; Reisa A Sperling; Manfred Windisch; Chengjie Xiong
Journal: Alzheimers Res Ther Date: 2011-01-06 Impact factor: 6.982

9. Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.

Authors: Jill S Goldman; Susan E Hahn; Jennifer Williamson Catania; Susan LaRusse-Eckert; Melissa Barber Butson; Malia Rumbaugh; Michelle N Strecker; J Scott Roberts; Wylie Burke; Richard Mayeux; Thomas Bird
Journal: Genet Med Date: 2011-06 Impact factor: 8.822

10. The Human Gene Mutation Database: 2008 update.

Authors: Peter D Stenson; Matthew Mort; Edward V Ball; Katy Howells; Andrew D Phillips; Nick St Thomas; David N Cooper
Journal: Genome Med Date: 2009-01-22 Impact factor: 11.117

6 in total

Review 1. Alzheimer's Disease and Frontotemporal Dementia: The Current State of Genetics and Genetic Testing Since the Advent of Next-Generation Sequencing.

Authors: Jill S Goldman; Vivianna M Van Deerlin
Journal: Mol Diagn Ther Date: 2018-10 Impact factor: 4.074

2. A platform for discovery: The University of Pennsylvania Integrated Neurodegenerative Disease Biobank.

Authors: Jon B Toledo; Vivianna M Van Deerlin; Edward B Lee; EunRan Suh; Young Baek; John L Robinson; Sharon X Xie; Jennifer McBride; Elisabeth M Wood; Theresa Schuck; David J Irwin; Rachel G Gross; Howard Hurtig; Leo McCluskey; Lauren Elman; Jason Karlawish; Gerard Schellenberg; Alice Chen-Plotkin; David Wolk; Murray Grossman; Steven E Arnold; Leslie M Shaw; Virginia M-Y Lee; John Q Trojanowski
Journal: Alzheimers Dement Date: 2013-08-24 Impact factor: 21.566

6. Optimized Protocol for Proportionate CNS Cell Retrieval as a Versatile Platform for Cellular and Molecular Phenomapping in Aging and Neurodegeneration.

Authors: Quratul Ain; Christian W Schmeer; Diane Wengerodt; Yvonne Hofmann; Otto W Witte; Alexandra Kretz
Journal: Int J Mol Sci Date: 2022-03-10 Impact factor: 5.923