Author

Katsuhisa Ogata

National Center of Neurology and PsychiatryORCID 0009-0000-8327-6499Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Organism:mouse· 1 Research Focus:protein structure prediction· 1 Assay:proteomics· 1 Assay:spatial transcriptomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Ichizo NishinoiD· 2 shared Alison RodgeriD· 1 shared Brian E. Mangilog· 1 shared Carmen ParadasiD· 1 shared Carsten G. BönnemanniD· 1 shared Chiara FiorilloiD· 1 shared Chiara L FollandiD· 1 shared Claudio BrunoiD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ichizo NishinoORCID

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2 papers

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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Genetic & Genomic MedicinemedRxivPreprintOct 25, 2023

Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome

Lein Dofash, Lee B. Miles, Yoshihiko Saito…·Gianina Ravenscroft

This study identifies biallelic HMGCS1 variants as a novel cause of rigid spine syndrome, showing hypomorphic effects through functional and clinical analyses.

3 citations

humanzebrafish

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