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Neurobiology of Disease|April 29, 2020
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assemblyMichela Di Nottia, Maria Marchese, Daniela Verrigni, et al.Journal of Inherited Metabolic Disease|May 10, 2012
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patientsDenise Cassandrini, Maria Roberta Cilio, Marzia Bianchi, et al.Journal of Clinical Medicine|August 7, 2021
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort StudyDeborah Tolomeo, Daniele Orsucci, Claudia Nesti, et al.Movement Disorders : Official Journal of the Movement Disorder Society|February 11, 2014
Myoclonus in mitochondrial disordersMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.Journal of Neurology|June 17, 2024
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohortSara Satolli, Salvatore Rossi, Elisa Vegezzi, et al.Pageof 7