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Neuropediatrics|August 31, 2012
COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointersDavide Tonduti, Anna Pichiecchio, Roberta La Piana, et al.Movement Disorders : Official Journal of the Movement Disorder Society|October 27, 2025
Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 DeficiencyFabio Bruschi, Ylenia Vaia, Clara E Antonello, et al.Metabolic Brain Disease|March 15, 2021
Ruxolitinib in Aicardi-Goutières syndromeEleonora Mura, Silvia Masnada, Clara Antonello, et al.Frontiers in Immunology|May 13, 2021
Case Report: Novel Compound Heterozygous <i>RNASEH2B</i> Mutations Cause Aicardi-Goutières SyndromeJessica Garau, Silvia Masnada, Francesca Dragoni, et al.AJNR. American Journal of Neuroradiology|May 2, 2024
Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander DiseaseThaís Armangue, Matthew T Whitehead, Davide Tonduti, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|April 12, 2023
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathySilvia Masnada, Roberto Previtali, Paola Erba, et al.Orphanet Journal of Rare Diseases|August 17, 2018
Encephalopathies with intracranial calcification in children: clinical and genetic characterizationDavide Tonduti, Celeste Panteghini, Anna Pichiecchio, et al.Journal of Child Neurology|July 19, 2012
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent featuresDavide Tonduti, Adeline Vanderver, Angela Berardinelli, et al.BMC Neurology|July 14, 2011
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case reportDario Ronchi, Alessandra Cosi, Davide Tonduti, et al.Antioxidants (Basel, Switzerland)|April 28, 2023
Redox Imbalance in Neurological Disorders in Adults and ChildrenFederica Rey, Clarissa Berardo, Erika Maghraby, et al.Pageof 11