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40 Publications


2020 | Journal Article | IST-REx-ID: 7957 | OA
I. Parenti, L. E. Garcia Rabaneda, H. Schön, and G. Novarino, “Neurodevelopmental disorders: From genetics to functional pathways,” Trends in Neurosciences, vol. 43, no. 8. Elsevier, pp. 608–621, 2020.
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2020 | Journal Article | IST-REx-ID: 8131 | OA
B. Basilico, J. Morandell, and G. Novarino, “Molecular mechanisms for targeted ASD treatments,” Current Opinion in Genetics and Development, vol. 65, no. 12. Elsevier, pp. 126–137, 2020.
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2020 | Thesis | IST-REx-ID: 8620
J. Morandell, “Illuminating the role of Cul3 in autism spectrum disorder pathogenesis,” IST Austria, 2020.
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2020 | Journal Article | IST-REx-ID: 8730
N. Tournier et al., “Complete inhibition of ABCB1 and ABCG2 at the blood-brain barrier by co-infusion of erlotinib and tariquidar to improve brain delivery of the model ABCB1/ABCG2 substrate [11C]erlotinib,” Journal of Cerebral Blood Flow and Metabolism. Sage, 2020.
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2020 | Journal Article | IST-REx-ID: 7149 | OA
L. Avagliano et al., “Chromatinopathies: A focus on Cornelia de Lange syndrome,” Clinical Genetics, vol. 97, no. 1. Wiley, pp. 3–11, 2020.
View | DOI | Download Published Version (ext.) | PubMed | Europe PMC
 

2020 | Journal Article | IST-REx-ID: 7488 | OA
A. Latorre-Pellicer et al., “Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes,” International Journal of Molecular Sciences, vol. 21, no. 3. MDPI, 2020.
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2020 | Journal Article | IST-REx-ID: 7586 | OA
S. Weinert et al., “Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration,” EMBO Journal, vol. 39. EMBO Press, 2020.
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2020 | Preprint | IST-REx-ID: 7800 | OA
J. Morandell et al., “Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development,” bioRxiv. Cold Spring Harbor Laboratory.
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2020 | Journal Article | IST-REx-ID: 7877 | OA
I. Parenti et al., “MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome,” Cell Reports, vol. 31, no. 7. Elsevier, 2020.
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2019 | Journal Article | IST-REx-ID: 7414
L. Knaus, D.-C. Tarlungeanu, and G. Novarino, “S.16.03 A homozygous missense mutation in SLC7A5 leads to autism spectrum disorder and microcephaly,” European Neuropsychopharmacology, vol. 29, no. Supplement 6. Elsevier, p. S11, 2019.
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