Author

Mariko Okubo

National Center of Neurology and PsychiatryORCID 0000-0002-7564-4463Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:mouse· 1

Frequent Co-Authors

Hisayoshi Nakamura· 1 shared Ichizo NishinoiD· 1 shared Ikuya Nonaka· 1 shared Katsuhisa OgataiD· 1 shared Ken‐ichi DewaiD· 1 shared Megumu Ogawa· 1 shared Mikio HoshinoiD· 1 shared Nobuyuki EuraiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Hisayoshi Nakamura

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 11, 2024

Genetic SNUPN variants cause spinocerebellar atrophy by disrupting global splicing in Purkinje cells

Mariko Okubo, Megumu Ogawa, Nobuyuki Eura…·S. Noguchi

The paper identifies SNUPN variants causing spinocerebellar atrophy by disrupting splicing in Purkinje cells through impaired U1 snRNP nuclear transport.

1 citation

mouseexperimental assay

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