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Journal of the Neurological Sciences|November 13, 2008
Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunctionStefania Corti, Chiara Donadoni, Dario Ronchi, et al.
Annals of Clinical and Translational Neurology|April 25, 2020
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiencyDario Ronchi, Edoardo Monfrini, Sara Bonato, et al.
BMC Neurology|January 18, 2013
POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndromeAntonella Cheldi, Dario Ronchi, Andreina Bordoni, et al.
American Journal of Human Genetics|June 23, 2015
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial EncephalomyopathyAurelio Reyes, Laura Melchionda, Alessia Nasca, 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.
Brain Sciences|December 23, 2023
Lafora Disease: A Case Report and Evolving Treatment AdvancementsCarola Rita Ferrari Aggradi, Martina Rimoldi, Gloria Romagnoli, et al.
Parkinsonism & Related Disorders|March 10, 2019
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathyEdoardo Monfrini, Letizia Straniero, Sara Bonato, et al.
Science Translational Medicine|December 21, 2012
Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophyStefania Corti, Monica Nizzardo, Chiara Simone, et al.
BMC Neurology|November 8, 2020
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutationArianna Manini, Tommaso Bocci, Alice Migazzi, et al.
Molecular Genetics and Metabolism Reports|June 27, 2022
A novel RRM2B mutation associated with mitochondrial DNA depletion syndromeMonica Fumagalli, Dario Ronchi, Maria Francesca Bedeschi, et al.
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