Publications by authors named "Carlo Minetti"

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Lennox-Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy-insights from the Genoa International Workshop.
Antonella Riva, Gianluca D'Onofrio, Elisabetta Amadori, Alexis Arzimanoglou, Stéphane Auvin, Carlo Minetti

Epilepsia· October 2025

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Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy.
Luca Bello, Pietro Riguzzi, Emilio Albamonte, Guja Astrea, Roberta Battini, Carlo Minetti

Drugs R D· June 2025

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Dermatologic Effects of Selumetinib in Pediatric Patients with Neurofibromatosis Type 1: Clinical Challenges and Therapeutic Management.
Paola Borgia, Gianluca Piccolo, Andrea Santangelo, Cristina Chelleri, Gianmaria Viglizzo, Carlo Minetti

J Clin Med· March 2024

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A proposal for a shared therapeutic algorithm in children with prolonged convulsive seizures and status epilepticus.
Roberta Roberti, Antonella Riva, Gianluca D'Onofrio, Emanuele Giacheri, Elisabetta Amadori, Carlo Minetti

Expert Rev Neurother· February 2024

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Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1.
Noemi Brolatti, Federica Trucco, Marta Ferretti, Chiara Avanti, Paola Tacchetti, Carlo Minetti

J Clin Med· December 2023

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Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders.
Antonella Riva, Michele Iacomino, Chiara Piccardo, Laura Franceschetti, Rossella Franchini, Carlo Minetti

Biochem Biophys Res Commun· September 2023

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Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Gianluca D'Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotović, Carlo Minetti

Hum Genet· July 2023

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Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.
Fernanda Fortunato, Francesca Bianchi, Giulia Ricci, Francesca Torri, Francesca Gualandi, Carlo Minetti

Orphanet J Rare Dis· July 2023

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Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.
Andrea Accogli, Shenzhao Lu, Ilaria Musante, Paolo Scudieri, Jill A Rosenfeld, Carlo Minetti

Cerebellum· April 2023

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Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage.
Alessandro Orsini, Daniele Ferrari, Antonella Riva, Andrea Santangelo, Angelo Macrì, Carlo Minetti

J Neurol· July 2022

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Epilepsy Course and Developmental Trajectories in -DEE.
Ganna Balagura, Julie Xian, Antonella Riva, Francesca Marchese, Bruria Ben Zeev, Carlo Minetti

Neurol Genet· June 2022

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An Open Retrospective Study of a Standardized Cannabidiol Based-Oil in Treatment-Resistant Epilepsy.
Francesca Marchese, Maria Stella Vari, Ganna Balagura, Antonella Riva, Vincenzo Salpietro, Carlo Minetti

Cannabis Cannabinoid Res· April 2022

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Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies.
Chiara Panicucci, Serena Baratto, Lizzia Raffaghello, Paola Tonin, Adele D'Amico, Carlo Minetti

Clin Neuropathol· January 2022

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An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.
Chiara Gemelli, Monica Traverso, Lucia Trevisan, Sabrina Fabbri, Elena Scarsi, Carlo Minetti

Muscle Nerve· January 2022

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P2X7 Receptor Antagonist Reduces Fibrosis and Inflammation in a Mouse Model of Alpha-Sarcoglycan Muscular Dystrophy.
Lizzia Raffaghello, Elisa Principi, Serena Baratto, Chiara Panicucci, Sara Pintus, Carlo Minetti

Pharmaceuticals (Basel)· January 2022

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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Shereen G Ghosh, Kerstin Becker, He Huang, Tracy D Salazar, Guoliang Chai, Carlo Minetti

Am J Hum Genet· December 2021

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New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment.
Antonella Riva, Alice Golda, Ganna Balagura, Elisabetta Amadori, Maria Stella Vari, Carlo Minetti

Front Neurol· December 2021

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Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
Smrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, Mariasavina Severino, Andrea Accogli, Carlo Minetti

Clin Genet· November 2021

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Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants.
Marcello Scala, Midas Anijs, Roberta Battini, Francesca Madia, Valeria Capra, Carlo Minetti

Ital J Pediatr· October 2021

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The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome.
Marco Veneruso, Chiara Fiorillo, Paolo Broda, Serena Baratto, Monica Traverso, Carlo Minetti

Front Neurol· October 2021

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Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.
Andrea Accogli, Gert Wiegand, Marcello Scala, Caterina Cerminara, Michele Iacomino, Carlo Minetti

Neurology· August 2021

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Neuromuscular and Neuroendocrinological Features Associated With -Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report.
Gianluca Piccolo, Giuseppe d'Annunzio, Elisabetta Amadori, Antonella Riva, Paola Borgia, Carlo Minetti

Front Neurol· July 2021

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Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.
Chiara Ticci, Daniele Orsucci, Anna Ardissone, Luca Bello, Enrico Bertini, Carlo Minetti

J Clin Med· May 2021

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Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutation.
Antonella Riva, Antonietta Coppola, Ganna Balagura, Marcello Scala, Michele Iacomino, Carlo Minetti

Epileptic Disord· April 2021

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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.
Marcello Scala, Irene Schiavetti, Francesca Madia, Cristina Chelleri, Gianluca Piccolo, Carlo Minetti

Cancers (Basel)· April 2021

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