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American Journal of Medical Genetics. Part A|December 31, 2013
Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6)Roberta La Piana, Carla Uggetti, Ivana Olivieri, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 12, 2021
How to look for intracranial calcification in children with neurological disorders: CT, MRI, or both of them?Davide Tonduti, Anna Pichiecchio, Carla Uggetti, et al.Frontiers in Genetics|December 24, 2021
Parental Somatic Mosaicism Uncovers Inheritance of an Apparently <i>De Novo GFAP</i> MutationAlice Grossi, Federico Morelli, Marco Di Duca, et al.Frontiers in Genetics|April 7, 2022
Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP MutationAlice Grossi, Federico Morelli, Marco Di Duca, et al.Metabolic Brain Disease|July 24, 2019
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiencySilvia Masnada, Stefan Groenweg, Veronica Saletti, et al.Frontiers in Nutrition|July 29, 2024
Microbiota gut-brain axis: implications for pediatric-onset leukodystrophiesYlenia Vaia, Fabio Bruschi, Veronica Maria Tagi, et al.Wiley Interdisciplinary Reviews. RNA|June 4, 2024
Role of epigenetics and alterations in RNA metabolism in leukodystrophiesFederica Rey, Letizia Esposito, Erika Maghraby, et al.Journal of Neuropathology and Experimental Neurology|December 18, 2012
More than hypomyelination in Pol-III disorderAdeline Vanderver, Davide Tonduti, Genevieve Bernard, et al.Journal of Child Neurology|October 10, 2013
Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophiesRoberta La Piana, Davide Tonduti, Heather Gordish Dressman, et al.Current Neurology and Neuroscience Reports|April 15, 2016
Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic ApproachDavide Tonduti, Luisa Chiapparini, Isabella Moroni, et al.Pageof 11