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Evolution of a Human-Specific Tandem Repeat Associated with ALS

  • Published:2020-09 Issue:3 Volume:107 Page:445-460
  • ISSN:0002-9297
  • Container-title:The American Journal of Human Genetics
  • language:en
  • Short-container-title:The American Journal of Human Genetics

Author:

Course Meredith M.,Gudsnuk Kathryn,Smukowski Samuel N.,Winston Kosuke,Desai Nitin,Ross Jay P.,Sulovari Arvis,Bourassa Cynthia V.,Spiegelman Dan,Couthouis Julien,Yu Chang-En,Tsuang Debby W.,Jayadev Suman,Kay Mark A.,Gitler Aaron D.,Dupre Nicolas,Eichler Evan E.,Dion Patrick A.,Rouleau Guy A.,Valdmanis Paul N.

Funder

National Institute of General Medical Sciences

National Institutes of Health

Canadian Institutes of Health Research

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference61 articles.

1. Tandem repeats mediating genetic plasticity in health and disease;Hannan;Nat. Rev. Genet.,2018

2. Repeat instability: mechanisms of dynamic mutations;Pearson;Nat. Rev. Genet.,2005

3. RNA-mediated neurodegeneration in repeat expansion disorders;Todd;Ann. Neurol.,2010

4. An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease;De Roeck;Acta Neuropathol.,2018

5. Characterization of a Human-Specific Tandem Repeat Associated with Bipolar Disorder and Schizophrenia;Song;Am. J. Hum. Genet.,2018

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2. A genome-wide spectrum of tandem repeat expansions in 338,963 humans;Cell;2024-04

3. Métodos diagnósticos moleculares en enfermedades neuromusculares y neurodegenerativas de origen genético;Pediatría;2024-03-30

4. Systems Biology and Human Diseases;Systems Biology Approaches: Prevention, Diagnosis, and Understanding Mechanisms of Complex Diseases;2024

5. Advances in the discovery and analyses of human tandem repeats;Emerging Topics in Life Sciences;2023-10-31
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