Author

Joost Nicolai

Maastricht University Medical CentreORCID 0000-0002-4480-4583Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:proteomics· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Bastiaan de PotteriD· 1 shared Charlotte I. de BieiD· 1 shared Elianne P. BulthuisiD· 1 shared Erik‐Jan KamsteegiD· 1 shared Jessica E. Hoogendijk· 1 shared Lambertus P. van den HeuveliD· 1 shared Liesbeth T. WintjesiD· 1 shared Lisanne H.T. Wezendonk· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Bastiaan de PotterORCID

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1 paper

Recent·Most cited

SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement

Elianne P. Bulthuis, Merel J.W. Adjobo-Hermans, Bastiaan de Potter, Saskia Hoogstraten, Lisanne H.T. Wezendonk, Omar A. Z. Tutakhel, Liesbeth T. Wintjes, Lambertus P. van den Heuvel, Peter H.G.M. Willems, Erik‐Jan Kamsteeg, M. Estela Rubio‐Gozalbo, Suzanne C.E.H. Sallevelt, Suzanne M. Koudijs, Joost Nicolai, Charlotte I. de Bie, , Richard J. Rodenburg

This paper identifies SMDT1 variants that cause EMRE protein absence and impair mitochondrial calcium uptake in patients with muscle involvement.

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · Jul 16, 2023Peer-reviewedGenetics