Author

Barbara A Perez

University of Florida

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetics· 1

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Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Alfredo BruscoiD· 1 shared Christopher Manuel GomeziD· 1 shared Hannah K ShorrockiD· 1 shared J. Andrew BerglundiD· 1 shared Jørgen Erik NielseniD· 1 shared Kaalak ReddyiD· 1 shared Laura P.W. RanumiD· 1 shared Lauren A. LaboissonniereiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alfredo BruscoORCID

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1 paper

Recent·Most cited

CCG*CGG interruptions in high penetrance SCA8 families increase RAN translation and protein toxicity

Barbara A Perez, Hannah K Shorrock, Mónica Báñez-Coronel, Tao Zu, Lisa E. L. Romano, Lauren A. Laboissonniere, Tammy S. Reid, Yoshio Ikeda, Kaalak Reddy, Christopher Manuel Gomez, Thomas D. Bird, Tetsuo Ashizawa, Lawrence J. Schut, Alfredo Brusco, J. Andrew Berglund, , Laura P.W. Ranum

This study shows that CCG*CGG interruptions in SCA8 repeat expansions increase RAN protein levels and toxicity, contributing to higher disease penetrance.

EMBO Molecular Medicine · Oct 11, 2021Peer-reviewedGenetics