Biblio
CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome. Stem Cell Res. 2020;47:101889.
. CRISPR/Cas9-mediated generation of hESC lines with homozygote and heterozygote p.R331W mutation in CTBP1 to model HADDTS syndrome. Stem Cell Res. 2022;67:103012.
. Demonstration of brain region-specific neuronal vulnerability in human iPSC-based model of familial Parkinson's disease. Hum Mol Genet. 2020.
Dysfunction of spatacsin leads to axonal pathology in SPG11 linked hereditary spastic paraplegia. Hum Mol Genet. 2014.
Gene dosage dependent rescue of HSP neurite defects in SPG4 patients' neurons. Hum Mol Genet. 2013.
Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in. Stem Cell Res. 2021;56:102520.
. Human induced pluripotent stem cells pave the road for a better understanding of motor neuron disease. Hum Mol Genet. 2014.
. Human SPG11 cerebral organoids reveal cortical neurogenesis impairment. Hum Mol Genet. 2018.
Model Testing of PluriTest with Next-Generation Sequencing Data. Stem Cells Dev. 2016.
. Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients. Acta Neuropathol. 2024;147(1):28.
A novel human stem cell model for Coffin-Siris Syndrome like syndrome reveals the importance of SOX11 dosage for neuronal differentiation and survival. Hum Mol Genet. 2019.
. Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons. Hum Mol Genet. 2023.
Plasma Neurofilaments: Potential Biomarkers of SPG11-Related Hereditary Spastic Paraplegia. Mov Disord. 2024.
. A reversible state of hypometabolism in a human cellular model of sporadic Parkinson's disease. Nat Commun. 2023;14(1):7674.
Th17 Lymphocytes Induce Neuronal Cell Death in a Human iPSC-Based Model of Parkinson's Disease. Cell Stem Cell. 2018;23(1):123-131.e6.
Unique signatures of stress-induced senescent human astrocytes. Exp Neurol. 2020:113466.
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