Author

Joost P.H. Drenth

Radboud University NijmegenORCID 0000-0001-8027-3073Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 1

Frequent Co-Authors

Alonso Barrantes‐FreeriD· 1 shared Carlo Alberto AngelettiiD· 1 shared Christine StadelmanniD· 1 shared Eike WegeneriD· 1 shared Giuseppe OrsomandoiD· 1 shared Hölger ThieleiD· 1 shared Ingo KurthiD· 1 shared Jonathan GilleyiD· 1 shared

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2019-2019 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperNeuroscience

Alonso Barrantes‐FreerORCID

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1 paper

Recent·Most cited

NeuroscienceExperimental NeurologyPeer-reviewedMay 24, 2019

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia

Peter Huppke, Eike Wegener, Jonathan Gilley…·Michael P. Coleman

The paper identifies a homozygous NMNAT2 mutation causing polyneuropathy and erythromelalgia in two sisters, linking it to axon degeneration and supporting the role of the Wallerian pathway in human disease.

67 citationstop 3%

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