Publications by authors named "Monica Traverso"

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A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: phenotypic and genotypic expansion.
Ferruccio Romano, Mohammad Sadegh Shams Nosrati, Francesca Madia, Marzia Ognibene, Monica Traverso

Eur J Med Genet· December 2025

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Landscape Analysis of , , and Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.
Fernanda Fortunato, Laura Fiocco, Alice Margutti, Marcella Neri, Adele D'Amico, Monica Traverso

Biomolecules· October 2025

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Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature.
Luca Bosisio, Matteo Cataldi, Marina Grandis, Barbara Tappino, Monica Traverso

Front Pediatr· September 2025

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Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of -Related Disorder/ Mitochondrial Trifunctional Protein Defect.
Giulia Balletto, Giulia Barbagallo, Matteo Cataldi, Francesco Germano, Monica Traverso

J Child Neurol· August 2025

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Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.
Domenico Gorgoglione, Daniele Sabbatini, Pietro Riguzzi, Giuliana Capece, Marika Pane, Monica Traverso

Brain· May 2025

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HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.
Lein N H Dofash, Lee B Miles, Yoshihiko Saito, Eloy Rivas, Vanessa Calcinotto, Monica Traverso

Brain· May 2025

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Case report: A single novel calpain 3 gene variant associated with mild myopathy.
Sara Massucco, Paola Fossa, Chiara Fiorillo, Elena Faedo, Chiara Gemelli, Monica Traverso

Front Genet· December 2024

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Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.
Ferruccio Romano, Maria K Haanpää, Pawel Pomianowski, Amanda Rose Peraino, John R Pollard, Monica Traverso

Am J Med Genet A· June 2024

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The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.
Alessia Mammi, Alessandro Geroldi, Serena Patrone, Fabio Gotta, Paola Origone, Monica Traverso

J Peripher Nerv Syst· June 2024

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DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.
Monica Traverso, Serena Baratto, Michele Iacomino, Marco Di Duca, Chiara Panicucci

Eur J Hum Genet· March 2024

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Corrigendum to "Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation" [Brain Dev. 38(1) (2016) 128-131].
Robertino Dilena, Pasquale Striano, Monica Traverso, Maurizio Viri, Gloria Cristofori

Brain Dev· February 2024

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Skeletal muscle involvement in biallelic mutations: case report and review of the literature.
Sara Massucco, Chiara Gemelli, Emilia Bellone, Alessandro Geroldi, Serena Patrone, Monica Traverso

Acta Myol· February 2024

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Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1.
Chiara Panicucci, Sara Casalini, Monica Traverso, Noemi Brolatti, Serena Baratto

Neuropediatrics· December 2023

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Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.
Alice Dainelli, Michele Iacomino, Sara Rossato, Samuela Bugin, Monica Traverso

Epilepsia Open· December 2023

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Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of .
Marzia Ognibene, Marcello Scala, Michele Iacomino, Irene Schiavetti, Francesca Madia, Monica Traverso

Cancers (Basel)· March 2023

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Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion.
Giuseppina Conteduca, Chiara Baldo, Alessia Arado, Monica Traverso, Barbara Testa

Stem Cell Res· February 2023

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Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation?
Cristina Chelleri, Marcello Scala, Patrizia De Marco, Monica Traverso, Marzia Ognibene

Front Pediatr· February 2023

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The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
Chiara Fiorillo, Giovanna Capodivento, Alessandro Geroldi, Stefano Tozza, Isabella Moroni, Monica Traverso

Neuropathol Appl Neurobiol· December 2022

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Congenital myopathy associated with a novel mutation in gene, myofibrillar alteration and progressive course.
Carolina Croci, Monica Traverso, Serena Baratto, Michele Iacomino, Marina Pedemonte

Acta Myol· November 2022

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Vesicular Glutamate Release from Feeder-FreehiPSC-Derived Neurons.
Simona Baldassari, Chiara Cervetto, Sarah Amato, Floriana Fruscione, Ganna Balagura, Monica Traverso

Int J Mol Sci· September 2022

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Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis.
Maurizio Miano, Daniela Guardo, Alice Grossi, Elena Palmisani, Francesca Fioredda, Monica Traverso

Front Immunol· June 2022

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

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

Muscle Nerve· January 2022

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Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Claire G Salter, Yiying Cai, Bernice Lo, Guy Helman, Henry Taylor, Monica Traverso

Brain· December 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

Front Neurol· October 2021

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