Search Results - "D'andrea, Tiziano"
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Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility
Published in Frontiers in psychiatry (08-03-2022)“…Autism Spectrum Disorder (ASD) is a highly heterogeneous neuropsychiatric disorder with a strong genetic component. The genetic architecture is complex,…”
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Cortical neurons obtained from patient-derived iPSCs with GNAO1 p.G203R variant show altered differentiation and functional properties
Published in Heliyon (15-03-2024)“…Pathogenic variants in the GNAO1 gene, encoding the alpha subunit of an inhibitory heterotrimeric guanine nucleotide-binding protein (Go) highly expressed in…”
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Selective Reduction of Ca2+ Entry Through the Human NMDA Receptor: a Quantitative Study by Simultaneous Ca2+ and Na+ Imaging
Published in Molecular neurobiology (01-08-2024)“…Excessive Ca 2+ influx through N-methyl-D-aspartate type glutamate receptors (NMDAR) is associated with excitotoxicity and neuronal death, but the inhibition…”
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Human iPSC Modeling of Genetic Febrile Seizure Reveals Aberrant Molecular and Physiological Features Underlying an Impaired Neuronal Activity
Published in Biomedicines (05-05-2022)“…Mutations in SCN1A gene, encoding the voltage-gated sodium channel (VGSC) NaV1.1, are widely recognized as a leading cause of genetic febrile seizures (FS),…”
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Selective Reduction of Ca 2+ Entry Through the Human NMDA Receptor: a Quantitative Study by Simultaneous Ca 2+ and Na + Imaging
Published in Molecular neurobiology (01-08-2024)“…Excessive Ca influx through N-methyl-D-aspartate type glutamate receptors (NMDAR) is associated with excitotoxicity and neuronal death, but the inhibition of…”
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Cardiac toxicity of trastuzumab in elderly patients with breast cancer
Published in Journal of geriatric cardiology : JGC (01-05-2016)“…Breast cancer (BC) is diagnosed in 〉 65 year old women in about half of cases. Experts currently recommend that systemic therapy is offered to elderly patients…”
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