Author

Rosaline C. M. Quinlivan

University College HospitalORCID 0000-0002-2306-4782Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Organism:human· 1

Frequent Co-Authors

Aasta Kelly· 1 shared Alistair R. R. ForrestiD· 1 shared Anna ViholaiD· 1 shared Ashirwad MerveiD· 1 shared Bjarne UddiD· 1 shared Chiara L FollandiD· 1 shared Cullen O’GormaniD· 1 shared David Hilton‐Jones· 1 shared

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2021-2021 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Aasta Kelly

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1 paper

Recent·Most cited

GeneticsBrainPeer-reviewedDec 23, 2021

Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis

Macarena Cabrera‐Serrano, Laure Caccavelli, Marco Savarese…·Gianina Ravenscroft

The paper identifies biallelic loss-of-function OBSCN variants in six patients with severe, recurrent rhabdomyolysis and shows reduced OBSCN expression and impaired SR Ca2+ handling in patient muscle.

31 citations

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