Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study

by Federica Graziola, Federica Graziola, Giacomo Garone, Giacomo Garone, Fabrizia Stregapede, Fabrizia Stregapede, Luca Bosco, Federico Vigevano, Paolo Curatolo, Enrico Bertini, Lorena Travaglini, Alessandro Capuano
Published 2019-10-01

Expanding the Clinical and Mutational Spectrum of the <i>PLP1</i>-Related Hypomyelination of Early Myelinated Structures (HEMS)

by Francesco Nicita, Chiara Aiello, Gessica Vasco, Massimiliano Valeriani, Fabrizia Stregapede, Andrea Sancesario, Michela Armando, Enrico Bertini
Published 2021-01-01

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

by Giacomo Garone, Alessandro Capuano, Lorena Travaglini, Federica Graziola, Fabrizia Stregapede, Ginevra Zanni, Federico Vigevano, Enrico Bertini, Francesco Nicita
Published 2020-05-01

Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency

by Fiorella Colasuonno, Alessia Niceforo, Chiara Marioli, Anna Fracassi, Fabrizia Stregapede, Keith Massey, Marco Tartaglia, Enrico Bertini, Claudia Compagnucci, Sandra Moreno
Published 2020-01-01

A Novel <i>KCNA2</i> Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine

by Paola Imbrici, Elena Conte, Rikard Blunck, Fabrizia Stregapede, Antonella Liantonio, Michele Tosi, Maria Cristina D’Adamo, Annamaria De Luca, Vesna Brankovic, Ginevra Zanni
Published 2021-09-01