Biblio
Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease. Stem Cell Res. 2021;53:102323.
. Human iPSC lines from a Christianson syndrome patient with NHE6 W523X mutation, a biologically-related control, and CRISPR/Cas9 gene-corrected isogenic controls. Stem Cell Res. 2021;54:102435.
. Loss of endosomal exchanger NHE6 leads to pathological changes in tau in human neurons. Stem Cell Reports. 2022.
. Modeling developmental neuropsychiatric disorders with iPSC technology: challenges and opportunities. Curr Opin Neurobiol. 2015;36:66-73.
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