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James F. Gusella

As seen in: Nature, Neurology
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Articles

In vivo CRISPR–Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington’s disease - Nature Genetics

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By Ricardo PInto, Cameron Douglas, Shota Shibata, Marion J. Riggs, James F. Gusella
| Nature Verified
Abstract Huntington’s disease, one of more than 50 inherited repeat expansion disorders1, is a dominantly inherited neurodegenerative disease caused by a CAG expansion in HTT2. Inherited CAG repeat length is the primary determinant of age of onset, with human genetic studies underscoring that the disease is driven by the CAG length-dependent propensity of the repeat to further expand in the brain3,4,5,6,7,8,9.
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Familial dysautonomia

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By Gusella JF, James F. Gusella, Slaugenhaupt SA, Susan A Slaugenhaupt
| ncbi.nlm.nih.gov
Save citation to file Format: Add to My Bibliography Your saved search Name of saved search: Search terms: Frequency: Which day? Which day? Report format: Send at most: Send even when there aren't any new results Optional text in email: Create a file for external citation management software
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Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease

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By Branduff McAllister, G. Bernhard Landwehrmeyer, Jong-Min Lee, James F. Gusella
| Neurology Verified
Abstract Objective To assess the prevalence, timing, and functional impact of psychiatric, cognitive, and motor abnormalities in Huntington disease (HD) gene carriers, we analyzed retrospective clinical data from individuals with manifest HD. Methods Clinical features of patients with HD were analyzed for 6,316 individuals in an observational study of the European Huntington's Disease Network (REGISTRY) from 161 sites across 17 countries.
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