Author

Martin Engvall

Karolinska University HospitalORCID 0000-0002-8339-3545Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Andrea VarroneiD· 1 shared Anna WedelliD· 1 shared Christer HalldiniD· 1 shared Cilla SöderhälliD· 1 shared Daniel NilssoniD· 1 shared Göran Solders· 1 shared Hong JiaoiD· 1 shared Inger NennesmoiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrea VarroneORCID

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1 paper

Recent·Most cited

Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs

Martin Paucar, Daniel Nilsson, Martin Engvall, José Miguel Laffita‐Mesa, Cilla Söderhäll, Mikael Skorpil, Christer Halldin, Patrik Fazio, Kristina Lagerstedt‐Robinson, Göran Solders, Maria Angéria, Andrea Varrone, Mårten Risling, Hong Jiao, Inger Nennesmo, , Per Svenningsson

This study identifies a GGC expansion in the ZFHX3 gene as the cause of SCA4, associated with dysautonomia and motor neuron signs.

Journal of Internal Medicine · Jul 7, 2024Peer-reviewedGenetic & Genomic Medicine