Publications by authors named "Lucia Saccuzzo"

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Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.
Raffaele Falsaperla, Eliana Salvo, Annamaria Sapuppo, Chiara Barberi, Vincenzo Sortino, Lucia Saccuzzo

Genes (Basel)· November 2025

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Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.
Eugenia Borgione, Ornella Galesi, Sandro Santa Paola, Mariangela Lo Giudice, Marika Giuliano, Lucia Saccuzzo

Gene· September 2025

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PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?
Raffaele Falsaperla, Annamaria Sapuppo, Xena Giada Pappalardo, Roberta Rizzo, Roberta Rocca, Lucia Saccuzzo

Mol Cell Pediatr· April 2025

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Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis.
Pinella Failla, Lucia Saccuzzo, Ornella Galesi, Donatella Greco, Vincenza Barresi

Int J Mol Sci· December 2024

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Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes.
Martina Miceli, Pinella Failla, Lucia Saccuzzo, Ornella Galesi, Silvestra Amata

Genes Genomics· April 2023

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PARK2 microdeletion in a multiplex family with autism spectrum disorder.
Rita Barone, Lara Cirnigliaro, Lucia Saccuzzo, Silvia Valdese, Fabio Pettinato

Int J Dev Neurosci· February 2023

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Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting.
Federica Saia, Adriana Prato, Lucia Saccuzzo, Francesca Madia, Rita Barone

Genes (Basel)· February 2023

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Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder.
Carmela Scuderi, Lucia Saccuzzo, Mirella Vinci, Lucia Castiglia, Ornella Galesi

Eur J Hum Genet· April 2019

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Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.
Marco Fichera, Pinella Failla, Lucia Saccuzzo, Martina Miceli, Eliana Salvo

Hum Genet· February 2019

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