FTLD-ALS of TDP-43 type and SCA2 in a family with a full ataxin-2 polyglutamine expansion

Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

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Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

Andrew C. Elden, Hyung Jun Kim, Michael P. Hart et al. · Nature · 2010 · 1.3K citations

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Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

Stefan-M. Pulst, Alex Nechiporuk, Tamilla Nechiporuk et al. · Nature Genetics · 1996 · 1.1K citations

Life Sciences, Genetics, Molecular Genetics +12

Non-ATG–initiated translation directed by microsatellite expansions

Tao Zu, Brian B. Gibbens, Noelle S. Doty et al. · Proceedings of the National Academy of Sciences · 2010 · 916 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17