Publications by authors named "Mario Benvenuto"

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Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian Family.
Mario Benvenuto, Dora Varvara, Massimo Carella, Pietro Palumbo, Luigi Bisceglia

Am J Med Genet A· January 2026

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Generation of a human induced pluripotent stem cell line (CIBIOi007-A) from a Lafora disease patient.
Gabriele Trentini, Giulia Cazzanelli, Marina Cardano, Orazio Palumbo, Mario Benvenuto

Stem Cell Res· September 2025

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The De Novo p.(Ser802Phe) Variant Causes Helsmoortel-Van der Aa/ADNP Syndrome in a 24-Year-Old Woman and Is Predicted to Perturb ADNP-DNA Affinity.
Mario Benvenuto, Marilena Carmela Di Giacomo, Ada Piepoli, Massimo Carella, Paola D'Addetta

Am J Med Genet A· September 2025

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Clinical course and management challenges in Lafora disease: a narrative analysis in an Apulian cohort.
Giuseppe d'Orsi, Maria Teresa Di Claudio, Antonella Liantonio, Paola Imbrici, Cosimo Damiano Altomare, Mario Benvenuto

Orphanet J Rare Dis· August 2025

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Long-Term Phenotypic Evolution in GRIN2A-Related Disorders: Electroclinical and Genetic Insights from Two Families with Extended Follow-Up.
Ester Di Muro, Pietro Palumbo, Massimo Carella, Mario Benvenuto, Maria Rachele Bianchi

Genes (Basel)· March 2025

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The Biallelic Inheritance of Two Novel Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam.
Giorgia Dinoi, Elena Conte, Orazio Palumbo, Mario Benvenuto, Maria Antonietta Coppola

Biomedicines· July 2024

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Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response.
Martina Esposito, Francesca Minnai, Massimiliano Copetti, Giuseppe Miscio, Rita Perna, Mario Benvenuto

Commun Med (Lond)· April 2024

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Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in Gene.
Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo

Genes (Basel)· March 2024

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Identification of a Novel Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment.
Mario Benvenuto, Pietro Palumbo, Ester Di Muro, Concetta Simona Perrotta, Tommaso Mazza

Genes (Basel)· October 2023

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Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease.
Giuseppe d'Orsi, Andrea Farolfi, Lorenzo Muccioli, Orazio Palumbo, Pietro Palumbo, Mario Benvenuto

Front Neurol· June 2023

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Novel Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.
Ester Di Muro, Pietro Palumbo, Mario Benvenuto, Maria Accadia, Marilena Carmela Di Giacomo

Genes (Basel)· July 2021

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Whole Exome Sequencing Reveals a Novel In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.
Pietro Palumbo, Ester Di Muro, Maria Accadia, Mario Benvenuto, Marilena Carmela Di Giacomo

Genes (Basel)· February 2021

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