Publications by authors named "Francesca Cumbo"

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Italian validation of the SMA independence scale-upper limb module.
Chiara Bravetti, Giorgia Coratti, Maria Carmela Pera, Giulio Gadaleta, Tiziana Mongini, Francesca Cumbo

Eur J Pediatr· June 2025

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Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia.
Jacopo Sartorelli, Maria Grazia Pomponi, Giacomo Garone, Gessica Vasco, Francesca Cumbo

Brain Sci· February 2025

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De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation.
Jacopo Sartorelli, Lorena Travaglini, Vito Luigi Colona, Carlo Casali, Francesca Cumbo

Cerebellum· December 2024

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Cognitive, adaptive and perseverative aspects characterization of children with XLMTM: An explorative study.
Francesca Cumbo, Michele Tosi, Irene Mizzoni, Michela Catteruccia, Adelina Carlesi

Eur J Paediatr Neurol· July 2024

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Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study.
Bianca Buchignani, Gianpaolo Cicala, Francesca Cumbo, Martina Ricci, Anna Capasso

Arch Dis Child· April 2024

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Evolution of neuropsychological and behavioral profile in a cohort of pediatric patients with Becker muscular dystrophy in a longitudinal study.
Francesca Cumbo, Michele Tosi, Michela Catteruccia, Daria Diodato, Francesco Nicita

Neuromuscul Disord· March 2024

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Neurocognitive profile of a cohort of SMA type 1 pediatric patients and emotional aspects, resilience and coping strategies of their caregivers.
Michele Tosi, Francesca Cumbo, Michela Catteruccia, Adelina Carlesi, Irene Mizzoni

Eur J Paediatr Neurol· March 2023

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Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome.
Federica Alice Maria Montanaro, Paolo Alfieri, Cristina Caciolo, Francesca Cumbo, Simone Piga

Am J Med Genet C Semin Med Genet· December 2022

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Neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients.
Francesca Cumbo, Michele Tosi, Michela Catteruccia, Daria Diodato, Francesco Nicita

Neuromuscul Disord· September 2022

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"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.
Francesco Nicita, Fabrizia Stregapede, Federica Deodato, Simone Pizzi, Simone Martinelli, Francesca Cumbo

Eur J Hum Genet· August 2022

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Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.
Paolo Alfieri, Marina Macchiaiolo, Martina Collotta, Federica Alice Maria Montanaro, Cristina Caciolo, Francesca Cumbo

J Clin Med· July 2022

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Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype.
Paola Sabrina Buonuomo, Gerarda Mastrogiorgio, Paolo Alfieri, Alessandra Terracciano, Claudia Cesario, Francesca Cumbo

Clin Dysmorphol· April 2022

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Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations.
Arianna Maiorana, Stefania Caviglia, Benedetta Greco, Paolo Alfieri, Francesca Cumbo

Orphanet J Rare Dis· October 2021

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Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study.
Paolo Alfieri, Cristina Caciolo, Giulia Lazzaro, Deny Menghini, Francesca Cumbo

J Clin Med· April 2021

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Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome.
Paolo Alfieri, Francesca Cumbo, Giulia Serra, Monia Trasolini, Camilla Frattini

Brain Sci· February 2021

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7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling.
Maria Lisa Dentici, Paola Bergonzini, Francesco Scibelli, Cristina Caciolo, Paola De Rose, Francesca Cumbo

Brain Sci· November 2020

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Defining language disorders in children and adolescents with Noonan Syndrome.
Giulia Lazzaro, Cristina Caciolo, Deny Menghini, Francesca Cumbo, Maria C Digilio

Mol Genet Genomic Med· April 2020

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