Publications by authors named "Anna Cavalli"

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Prolonged Follow-Up in a 30-Year-Old Male With a Novel Pathogenic Variant in MSL3 : A Case Report and a Brief Review of the Literature.
Giulia Pisanò, Carlo Alberto Cesaroni, Susanna Rizzi, Agnese Pantani, Anna Cavalli

Am J Med Genet A· December 2025

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A Boy with a Novel Variant in : An Expanded Phenotype and a Brief Review of the Literature.
Diletta Ziveri, Carlo Alberto Cesaroni, Gianluca Contrò, Stefano Giuseppe Caraffi, Francesca Ormitti, Anna Cavalli

Children (Basel)· November 2025

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Paroxysmal Dyskinesias in Paediatric Age: A Systematic Review.
Giulia Pisanò, Martina Gnazzo, Giulia Sigona, Carlo Alberto Cesaroni, Agnese Pantani, Anna Cavalli

J Clin Med· August 2025

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Myoclonic reflex and non-reflex seizures in a female child with Coffin-Lowry syndrome: Clinical vignette.
Agnese Pantani, Susanna Rizzi, Carlotta Spagnoli, Carlo Alberto Cesaroni, Anna Cavalli

Epileptic Disord· April 2025

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Sensory-Motor Polyneuropathy in an 11-year- old Girl with a Pathogenic Variant in SMC1A: A Case Report.
Angelica De Luisa, Carlo A Cesaroni, Marzia Pollazzon, Carlotta Spagnoli, Stefano G Caraffi, Anna Cavalli

Neuropediatrics· February 2025

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Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP.
Sara Scaccini, Carlo Alberto Cesaroni, Stefano Giuseppe Caraffi, Susanna Rizzi, Simonetta Rosato, Anna Cavalli

Neurogenetics· February 2025

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A Novel Variant in the Gene in the Oldest Individual with Late-Onset Isolated Sulfite Oxidase Deficiency.
Susanna Rizzi, Carlo Alberto Cesaroni, Carlotta Spagnoli, Anna Cavalli, Marzia Pollazzon

Can J Neurol Sci· December 2024

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Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature.
Carlo Alberto Cesaroni, Gianluca Contrò, Carlotta Spagnoli, Federica Cancelliere, Stefano Giuseppe Caraffi, Anna Cavalli

Neurogenetics· July 2024

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Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.
Anna Cavalli, Stefano Giuseppe Caraffi, Susanna Rizzi, Gabriele Trimarchi, Manuela Napoli

BMC Med Genomics· March 2024

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Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Benedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, Anna Cavalli, Carlo Alberto Cesaroni

Int J Mol Sci· January 2024

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Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Francesca Peluso, Stefano G Caraffi, Gianluca Contrò, Lara Valeri, Manuela Napoli, Anna Cavalli

J Med Genet· November 2023

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Patterns and predictors of language representation and the influence of epilepsy surgery on language reorganization in children and young adults with focal lesional epilepsy.
Carmen Barba, Domenico Montanaro, Laura Grisotto, Francesca Frijia, Simona Pellacani, Anna Cavalli

PLoS One· October 2020

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Neglected tropical disease (NTD) control in health systems: the interface between programmes and general health services.
Bruno Marchal, Monique Van Dormael, Marjan Pirard, Anna Cavalli, Guy Kegels

Acta Trop· September 2011

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Interactions between Global Health Initiatives and country health systems: the case of a neglected tropical diseases control program in Mali.
Anna Cavalli, Sory I Bamba, Mamadou N Traore, Marleen Boelaert, Youssouf Coulibaly

PLoS Negl Trop Dis· August 2010

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Global health actors claim to support health system strengthening: is this reality or rhetoric?
Bruno Marchal, Anna Cavalli, Guy Kegels

PLoS Med· April 2009

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Programme activities: a major burden for district health systems?
Youssouf Coulibaly, Anna Cavalli, Monique van Dormael, Katja Polman, Guy Kegels

Trop Med Int Health· December 2008

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