Author

Aki Sato

Niigata City General Hospital

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

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Adnan Yousaf Manzur· 1 shared Aileen Reghan FoleyiD· 1 shared Alice Flynn Ford· 1 shared Alice KusteriD· 1 shared Ana TöpfiD· 1 shared Andrea KleiniD· 1 shared Andriy V. ShatilloiD· 1 shared Aritoshi IidaiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adnan Yousaf Manzur

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1 paper

Recent·Most cited

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Hong Joo Kim, Payam Mohassel, Sandra C. Donkervoort, Lin E. Guo, Kevin O’Donovan, Maura Coughlin, Xavière Lornage, Nicola C. Foulds, Simon R. Hammans, Aileen Reghan Foley, Charlotte M. Fare, Alice Flynn Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, , J. Paul Taylor

The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.

Nature Communications · Apr 28, 2022Peer-reviewedGenetic & Genomic Medicine