Author

Anna Vihola

University of HelsinkiORCID 0000-0001-9249-8480Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:statistical model· 1

Frequent Co-Authors

Bjarne UddiD· 2 shared Manu E. JokelaiD· 2 shared Marco SavareseiD· 2 shared Mridul JohariiD· 2 shared Aasta Kelly· 1 shared Alistair R. R. ForrestiD· 1 shared Ashirwad MerveiD· 1 shared Chiara L FollandiD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersNeuroscience

Bjarne UddORCID

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2 papers

Recent·Most cited

Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis

Mridul Johari, Anna Vihola, Johanna Palmio, Manu E. Jokela, Per Harald Jonson, Jaakko Sarparanta, Sanna Huovinen, Marco Savarese, Peter Hackman, Bjarne Udd

This study identifies dysregulation of calcium homeostasis and T-cell apoptosis in IBM through transcriptomic analysis of muscle biopsies.

Journal of Neurology · Mar 2, 2022Peer-reviewedNeuroscience

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