Author

Marina Michelson

Wolfson Medical CenterORCID 0000-0002-3794-0843Unclaimed 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:human· 1

Frequent Co-Authors

Dorit LeviD· 1 shared Elena PavlovaiD· 1 shared Heather J. Church· 1 shared Hila Gur Michaeli· 1 shared J. Paul LuzioiD· 1 shared Karen L. TyleeiD· 1 shared Keren Yosovich· 1 shared Nicholas A. BrightiD· 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

Dorit LevORCID

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Author profile →

1 paper

Recent·Most cited

Juvenile Mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

Elena Pavlova, Dorit Lev, Marina Michelson, Keren Yosovich, Hila Gur Michaeli, Nicholas A. Bright, Paul T. Manna, Veronica Kane Dickson, Karen L. Tylee, Heather J. Church, J. Paul Luzio, Timothy Martin Cox

The paper identifies a missense mutation in VPS33A causing an attenuated juvenile form of mucopolysaccharidosis plus and shows potential therapeutic interventions.

Human Mutation · Sep 25, 2022Peer-reviewedGenetic & Genomic Medicine