Author

R. Scalco

National Hospital for Neurology and NeurosurgeryORCID 0000-0002-5400-562XUnclaimed 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 Approach:experimental assay· 1

Frequent Co-Authors

Henry HouldeniD· 2 shared Aasta Kelly· 1 shared Abi Li· 1 shared Alejandro HorgaiD· 1 shared Alistair R. R. ForrestiD· 1 shared Amelie Pandraud· 1 shared Andreea ManoleiD· 1 shared Andrew SingletoniD· 1 shared

Activity by Year

2017-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetics

Henry HouldenORCID

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2 papers

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

human

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NeuroscienceBrainPeer-reviewedAug 23, 2017

Mitochondrial impairment and rescue in riboflavin responsive neuropathy

Andreea Manole, Zane Jaunmuktane, Iain Parry Hargreaves…·Henry Houlden

This study identifies RFVT gene mutations in BVVLS, shows mitochondrial dysfunction, and demonstrates therapeutic potential with riboflavin esters.

97 citations

humanexperimental assay

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