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Journal of Medical Genetics|September 30, 2016
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiencyAnabel Martinez Lyons, Anna Ardissone, Aurelio Reyes, et al.BMC Medical Genetics|September 13, 2013
Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophyAnna Ardissone, Cinzia Bragato, Lorella Caffi, et al.Muscle & Nerve|May 5, 2020
Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCKSimona Saredi, Edmund S Cauley, Alessandra Ruggieri, et al.JIMD Reports|February 2, 2015
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of LiteratureAnna Ardissone, Eleonora Lamantea, Jade Quartararo, 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.Acta Neurologica Scandinavica|May 19, 2019
Epileptic phenotypes in children with early-onset mitochondrial diseasesSara Matricardi, Laura Canafoglia, Anna Ardissone, et al.Movement Disorders Clinical Practice|February 13, 2019
Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated NeurodegenerationCamilla Russo, Anna Ardissone, Elena Freri, et al.Biochimica Et Biophysica Acta|March 13, 2016
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologiesAndrea Legati, Aurelio Reyes, Alessia Nasca, et al.Journal of Neurology, Neurosurgery, and Psychiatry|February 10, 2026
Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohortChiara Benzoni, Marco Moscatelli, Paola Lanteri, et al.Pediatric Neurology|August 6, 2025
Fourteen New Pediatric Cases of Shapiro SyndromeFrancesca Maccarelli, Alice Muda, Elisa Crotti, et al.Pageof 7