Author

Manuela Bozzi

Università Cattolica del Sacro CuoreORCID 0000-0002-2656-5849Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Pathology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:mouse· 1

Frequent Co-Authors

Andrea BrancaccioiD· 1 shared Francesca SciandraiD· 1 shared Jens ReimanniD· 1 shared R. L. Tan· 1 shared Sandra BlaessiD· 1 shared Susanne SchochiD· 1 shared Wolfgang HübneriD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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7 top collaborators · 21 mutual co-author links

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1 shared paperPathology

Andrea BrancaccioORCID

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1 paper

Recent·Most cited

PathologyDisease Models & MechanismsPeer-reviewedApr 15, 2024

A missense mutation (C667F) in beta-dystroglycan results in reduced dystroglycan protein levels leading to myopathy and destabilization of the blood-brain and blood-retinal barrier protein network

R. L. Tan, Francesca Sciandra, Wolfgang Hübner…·Sandra Blaess

This study creates a mouse model of a beta-dystroglycan mutation causing myopathy and altered blood-brain and blood-retinal barrier protein networks, but not severe developmental issues seen in humans.

5 citations

mouseexperimental assay

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