Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

Isaac Marin-Valencia, Andreas Gerondopoulos, Maha S. Zaki, Tawfeg Ben-Omran, Mariam Almureikhi, Ercan Demir, Alicia Guemez-Gamboa, Anne Gregor, Mahmoud Y. Issa, Bart Appelhof, Susanne Roosing, Damir Musaev, Basak Rosti, Sara Wirth, Valentina Stanley, Frank Baas, Francis A. Barr, Joseph G. Gleeson*

*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

45 Scopus citations

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Keyphrases

Biochemistry, Genetics and Molecular Biology

Neuroscience