Publications by authors named "Giuseppe Mangano"

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A mutational hotspot in associated with impaired heterodimer formation and severe brain developmental disorders.
Gabriele Di Pasquale, Jacopo Colella, Carola P Di Cataldo, Miguel A Soler, Sara Fortuna, Giuseppe D Mangano

Front Cell Neurosci· October 2025

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Exploring the Role of Heat Shock Proteins in Neuroimmune Modulation in Rheumatoid Arthritis: Insights from a Rat Model.
Malak Fouani, Federica Scalia, Giuseppe Donato Mangano, Francesca Rappa, Wassim Abou-Kheir

Int J Mol Sci· October 2025

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A novel de novo AP2M1 variant in a patient with attention-deficit/hyperactivity disorder, oppositional defiant disorder, and unexpected hemiplegic migraine.
Giuseppe D Mangano, Vincenzo Antona, Giuseppe Santangelo, Gabriele Di Pasquale, Jacopo Colella, Giuseppa R Mangano

Headache· September 2025

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Emerging Mycotoxins in Cheese: Simultaneous Analysis of Aflatoxin M, Aflatoxicol, and Sterigmatocystin by LC-MS/MS.
Maurizio Cossu, Andrea Sanna, Giuseppe Mangano, Giuseppe Ledda, Giannina Chessa

Molecules· April 2025

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ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview.
Greta Amore, Elisa Calì, Maria Spanò, Giorgia Ceravolo, Giuseppe Donato Mangano

Brain Dev· November 2023

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The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.
Giovanna Scorrano, Emanuele David, Elisa Calì, Roberto Chimenz, Saverio La Bella, Giuseppe Donato Mangano

Genes (Basel)· November 2023

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NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.
Antonella Gambadauro, Giuseppe Donato Mangano, Karol Galletta, Francesca Granata, Antonella Riva

Genes (Basel)· November 2023

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KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Maria Cristina Cioclu, Ilaria Mosca, Paolo Ambrosino, Deborah Puzo, Allan Bayat, Giuseppe Donato Mangano

Ann Neurol· August 2023

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Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow-up study.
Giuseppe Donato Mangano, Maria Rita Capizzi, Elide Mantuano, Liana Veneziano, Giuseppe Santangelo

Headache· July 2023

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Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D'Onofrio, Giuseppe D Mangano

Orphanet J Rare Dis· July 2022

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Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit.
Federica Scalia, Rosario Barone, Francesca Rappa, Antonella Marino Gammazza, Fabrizio Lo Celso, Giuseppe Donato Mangano

Front Mol Biosci· June 2022

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Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review.
Giuseppe Donato Mangano, Antonina Fontana, Vincenzo Antona, Vincenzo Salpietro, Giuseppa Renata Mangano

Mol Genet Genomic Med· May 2022

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De novo GRIN2A variants associated with epilepsy and autism and literature review.
Giuseppe Donato Mangano, Antonella Riva, Antonina Fontana, Vincenzo Salpietro, Giuseppa Renata Mangano

Epilepsy Behav· April 2022

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A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster.
Giuseppe Donato Mangano, Vincenzo Antona, Elisa Calì, Antonina Fontana, Vincenzo Salpietro

Seizure· April 2022

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Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities.
Giuseppe Donato Mangano, Antonina Fontana, Vincenzo Salpietro, Vincenzo Antona, Giuseppa Renata Mangano

Eur J Med Genet· March 2022

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Heat Shock Proteins Alterations in Rheumatoid Arthritis.
Malak Fouani, Charbel A Basset, Giuseppe D Mangano, Lavinia G Leone, Nada B Lawand

Int J Mol Sci· March 2022

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Cancer-Related Cachexia: The Vicious Circle between Inflammatory Cytokines, Skeletal Muscle, Lipid Metabolism and the Possible Role of Physical Training.
Giuseppe Donato Mangano, Malak Fouani, Daniela D'Amico, Valentina Di Felice, Rosario Barone

Int J Mol Sci· March 2022

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A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes.
Rosaria Nardello, Vincenzo Antona, Giuseppe Donato Mangano, Vincenzo Salpietro, Salvatore Mangano

BMC Med Genomics· April 2021

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Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome.
Rosaria Nardello, Giuseppe Donato Mangano, Antonina Fontana, Cesare Gagliardo, Federico Midiri, Salvatore Mangano

Eur J Med Genet· February 2021

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Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.
Rosaria Nardello, Giuseppe Donato Mangano, Vincenzo Antona, Antonina Fontana, Pasquale Striano, Salvatore Mangano

Seizure· February 2021

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One-port vs. three-port diagnostic vitrectomy for posterior segment diseases of unknown origin.
Marco Coassin, Lorenzo Braconi, Giancarlo Sborgia, Giuseppe Mangano, Valentina Mastrofilippo

Int Ophthalmol· December 2020

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Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?
Rosaria Nardello, Giuseppe Donato Mangano, Francesco Miceli, Antonina Fontana, Ettore Piro

Epileptic Disord· December 2020

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Migraine in children under 6 years of age: A long-term follow-up study.
Francesca Marchese, Luciana Rocchitelli, Luca Maria Messina, Rosaria Nardello, Giuseppe Donato Mangano, Salvatore Mangano

Eur J Paediatr Neurol· July 2020

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Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant.
Rosaria Nardello, Giorgia Plicato, Giuseppe Donato Mangano, Elena Gennaro, Salvatore Mangano

BMC Neurol· April 2020

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Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.
Rosaria Nardello, Antonina Fontana, Giuseppe Donato Mangano, Stephanie Efthymiou, Vincenzo Salpietro, Salvatore Mangano

Epileptic Disord· February 2020

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