Antonio Falace

At the forefront of gene-based therapies in Dravet syndrome

Antonella Riva, Sara Di Gioacchino, Greta Volpedo, Beatrice Risso et autres

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Optimized nuclei isolation and snRNA-seq reveal oligodendrocyte pathway dysregulation in MOGHE brain tissue from pediatric patients

Clara Tuccari di San Carlo, Roberto Semeraro, Valentina Cetica, Dalila De Vita et autres

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P11.063.C. ARHGAP10 deficiency causes a novel neurodevelopmental disorder through impaired dendritic morphogenesis

Antonio Falace, Hanako Tsushima, Mohammad Sadegh Shams Nosrati, Philippe Campeau et autres

SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights

Beatrice Risso, Antonella Riva, Greta Volpedo, Valerio Conti et autres

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Adjunctive acetazolamide for drug‐resistant seizures in SLC6A1 ‐related neurodevelopmental disorder: An exploratory case series

Gia Melikishvili, Olivier Dulac, Otar Koniashvili, Giorgi Mamardashvili et autres

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Pathophysiological Mechanisms Fostering Developmental and Epileptic Encephalopathies (DEE): a Complex Interplay between Genetics, Inflammation and Neurodegeneration

Antonella Riva, Greta Volpedo, Federico Zara, Anna Fassio et autres

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Mosaic expression of SLC35A2 pathogenetic variants impairs neuronal migration and dendritogenesis in the developing cortex

Antonio Falace, Léa Corbières, Lucas Silvagnoli, Cristiana Pelorosso et autres

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V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities

Antonio Falace, Greta Volpedo, Marcello Scala, Federico Zara et autres

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FLNA regulates neuronal maturation by modulating RAC1-Cofilin activity in the developing cortex

Antonio Falace, Léa Corbières, Cátia Palminha, Fabrizia Claudia Guarnieri et autres

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ATP6V1A is required for synaptic rearrangements and plasticity in murine hippocampal neurons

Alessandro Esposito, Sara Pepe, Maria Sabina Cerullo, Katia Cortese et autres

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DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia

Monica Traverso, Serena Baratto, Michele Iacomino, Marco Di Duca et autres

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Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia

Ferruccio Romano, Elisabetta Amadori, Francesca Madia, Mariasavina Severino et autres

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