Author

Aasta Kelly

Harry Perkins Institute of Medical Research

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Genetics· 1

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Organism:human· 1

Frequent Co-Authors

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 Drago BratkoviciD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alistair R. R. ForrestORCID

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1 paper

Recent·Most cited

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

Macarena Cabrera‐Serrano, Laure Caccavelli, Marco Savarese, Anna Vihola, Manu E. Jokela, Mridul Johari, Thierry Capiod, Marine Madrange, Enrico Bugiardini, Stefen Brady, Rosaline C. M. Quinlivan, Ashirwad Merve, R. Scalco, David Hilton‐Jones, Henry Houlden, , 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.

Brain · Dec 23, 2021Peer-reviewedGenetics