Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X

Randi J. Hagerman, Maureen A. Leehey, W L Heinrichs et al. · Neurology · 2001 · 972 citations

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Risk of Ischemic Stroke in Patients With Coronavirus Disease 2019 (COVID-19) vs Patients With Influenza

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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

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Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese, Roberto Simone, Roisin Sullivan et al. · Nature Genetics · 2019 · 581 citations · Full text

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Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis

Ian T. Fiddes, Gerrald A. Lodewijk, Meghan Mooring et al. · Cell · 2018 · 569 citations · Full text

Life Sciences, Genetics, Molecular Biology +12