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Maureen A. Leehey

Researcher at University of Colorado Denver

Publications -  99
Citations -  10291

Maureen A. Leehey is an academic researcher from University of Colorado Denver. The author has contributed to research in topics: Fragile X-associated tremor/ataxia syndrome & Ataxia. The author has an hindex of 47, co-authored 92 publications receiving 9536 citations. Previous affiliations of Maureen A. Leehey include Veterans Health Administration & University of Colorado Boulder.

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

TL;DR: In this article, the authors reported five elderly men with the fragile X premutation who had a progressive action tremor associated with executive function deficits and generalized brain atrophy, and they had elevated fragile X mental retardation 1 gene (FMR1) messenger RNA and normal or borderline levels of FMR1 protein.
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Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates

TL;DR: The clinical presentation of these patients, coupled with a specific lesion visible on magnetic resonance imaging and with neuropathological findings, affords a more complete delineation of this fragile X premutation-associated tremor/ataxia syndrome and distinguishes it from other movement disorders.
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Penetrance of the Fragile X–Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population

TL;DR: It is demonstrated that older male carriers of premutation alleles of the FMR1 gene are at high risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS), and older men with ataxia and intention tremor should be screened for the F MR1 mutation.
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Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers.

TL;DR: The presence of inclusions in the brains of all four FXS carriers with the neurological findings provides further support for a unique clinical entity associated with pre-mutation FMR1 alleles.