Dario Ronchi

Summary

Country: Italy

Publications

  1. pmc Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report
    Dario Ronchi
    Centro Dino Ferrari, Department of Neurological Sciences, University of Milan, Foundation IRCCS Ca Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy
    BMC Neurol 11:85. 2011
  2. doi request reprint Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis
    Veronica Crugnola
    Department of Neurological Sciences, Dino Ferrari Center, Universita degli Studi di Milano, Scientific Institute for Research and Treatment Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy
    Arch Neurol 67:849-54. 2010
  3. doi request reprint Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia
    Roberta Virgilio
    Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, Fondazione I R C C S Ospedale Maggiore, Policlinico, Mangiagolli e Regina Elena, Via Sforza 35, 20122, Milano, Italy
    J Neurol 255:1384-91. 2008
  4. doi request reprint Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice
    Stefania Corti
    Department of Neurological Sciences, University of Milan, Via Francesco Sforza 35, 20122 Milan, Italy
    Brain 133:465-81. 2010
  5. pmc Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families
    Michela Ranieri
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
    J Neurol Sci 315:146-9. 2012
  6. doi request reprint Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy
    Stefania Corti
    Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, IRCCS Foundation Ca Granda Ospedale Maggiore Policlinico, Milan 20135, Italy
    Sci Transl Med 4:165ra162. 2012
  7. pmc The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment
    Dario Ronchi
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca Granda Ospedale Maggiore Policlinico, Milan, Italy
    Eur J Hum Genet 20:357-60. 2012
  8. doi request reprint Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation
    Dario Ronchi
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca Granda Ospedale Maggiore Policlinico, Milan, Italy
    Biochem Biophys Res Commun 412:245-8. 2011
  9. pmc Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia
    Dario Ronchi
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca Granda Ospedale Maggiore Policlinico, Milan, Italy
    J Neurol Sci 308:173-6. 2011
  10. doi request reprint Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms
    Monica Nizzardo
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
    Exp Neurol 229:214-25. 2011

Collaborators

Detail Information

Publications19

  1. pmc Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report
    Dario Ronchi
    Centro Dino Ferrari, Department of Neurological Sciences, University of Milan, Foundation IRCCS Ca Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy
    BMC Neurol 11:85. 2011
    ..Onset is in early infancy and prognosis is poor. Causative mutations have been disclosed in mitochondrial DNA and nuclear genes affecting respiratory chain subunits and assembly factors...
  2. doi request reprint Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis
    Veronica Crugnola
    Department of Neurological Sciences, Dino Ferrari Center, Universita degli Studi di Milano, Scientific Institute for Research and Treatment Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy
    Arch Neurol 67:849-54. 2010
    ..Although defects of the mitochondrial respiratory chain have been described in several ALS patients, their pathogenic significance is unclear...
  3. doi request reprint Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia
    Roberta Virgilio
    Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, Fondazione I R C C S Ospedale Maggiore, Policlinico, Mangiagolli e Regina Elena, Via Sforza 35, 20122, Milano, Italy
    J Neurol 255:1384-91. 2008
    ..7% of probands of this series. Six novel missense mutations contributing to the mutational load of PEO1 gene (p.R334P, p.W315S, p. S426N, p.W474S, p.F478I, p.E479K) were associated with an adult onset PEO phenotype...
  4. doi request reprint Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice
    Stefania Corti
    Department of Neurological Sciences, University of Milan, Via Francesco Sforza 35, 20122 Milan, Italy
    Brain 133:465-81. 2010
    ..Our results suggest translational potential for the use of pluripotent cells in neural stem cell-mediated therapies and highlight potential safety improvements and benefits of drug selection for neuroepithelial cells...
  5. pmc Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families
    Michela Ranieri
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
    J Neurol Sci 315:146-9. 2012
    ....
  6. doi request reprint Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy
    Stefania Corti
    Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, IRCCS Foundation Ca Granda Ospedale Maggiore Policlinico, Milan 20135, Italy
    Sci Transl Med 4:165ra162. 2012
    ..These results suggest that generating genetically corrected SMA-iPSCs and differentiating them into motor neurons may provide a source of motor neurons for therapeutic transplantation for SMA...
  7. pmc The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment
    Dario Ronchi
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca Granda Ospedale Maggiore Policlinico, Milan, Italy
    Eur J Hum Genet 20:357-60. 2012
    ..9% mutated mtDNA results in the COX deficiency phenotype. The new phenotype further increases the clinical spectrum of mitochondrial diseases caused by mutations in the tRNA(Asn) gene...
  8. doi request reprint Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation
    Dario Ronchi
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca Granda Ospedale Maggiore Policlinico, Milan, Italy
    Biochem Biophys Res Commun 412:245-8. 2011
    ..9176T→C mutation, based on analysis of a muscle biopsy. In contrast, the brother died at a young age. This novel case report and literature review highlights the variability of phenotypic expression of the m.9176T→C mutation...
  9. pmc Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia
    Dario Ronchi
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca Granda Ospedale Maggiore Policlinico, Milan, Italy
    J Neurol Sci 308:173-6. 2011
    ..PEO1 sequencing disclosed two novel mutations in exons 1 and 4 of the gene, respectively. Although mutations in PEO1 exon 1 have already been described, this is the first report of mutation occurring in exon 4...
  10. doi request reprint Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms
    Monica Nizzardo
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
    Exp Neurol 229:214-25. 2011
    ..Further investigation of analogs with increased and more specific therapeutic effects warrants the development of useful therapies for SMA...
  11. doi request reprint The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment
    Dario Ronchi
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy
    J Neurol Sci 292:107-10. 2010
    ..This second report of the m.12316G>A mutation in a sporadic patient consolidates its pathogenic nature and provides further elements for genetic counselling...
  12. pmc The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency
    Alessio Di Fonzo
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, 20122 Milan, Italy
    Am J Hum Genet 84:594-604. 2009
    ..These findings shed light on the mechanisms of mitochondrial biogenesis, establish the role of GFER in the human DRS, and promote an understanding of the pathogenesis of a new mitochondrial disease...
  13. doi request reprint Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction
    Stefania Corti
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy
    J Neurol Sci 276:170-4. 2009
    ..These results suggest that a minute quantity of mutant SOD1 protein contributes to a mitochondrial toxicity also in muscle tissue...
  14. pmc Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
    Dario Ronchi
    Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, IRCCS Foundation Ca Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy
    Brain 135:3404-15. 2012
    ....
  15. pmc Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability
    Dario Ronchi
    Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy
    Am J Hum Genet 92:293-300. 2013
    ..These results implicate human DNA2 and the LP-BER pathway in the pathogenesis of adult-onset disorders of mtDNA maintenance...
  16. doi request reprint Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study
    Roberta Virgilio
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy
    J Neurol Sci 281:85-92. 2009
    ..Our study contributes further data on the clinical spectrum and its relation with the level of G8363A tRNA(Lys) mtDNA mutation...
  17. pmc Mitochondrial fusion proteins and human diseases
    Michela Ranieri
    Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation DePT, University of Milan, Neurology Unit, IRCCS Foundation Ca Granda Ospedale Maggiore Policlinico, Via F Sforza 35, 20122 Milan, Italy
    Neurol Res Int 2013:293893. 2013
    ..We also review the literature describing the main disorders associated with the disruption of mitochondrial fusion...
  18. pmc Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy
    Stefania Corti
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan and IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy
    J Clin Invest 118:3316-30. 2008
    ..NSC transplantation positively affected the SMA disease phenotype, indicating that transplantation of NSCs may be a possible treatment for SMA...
  19. ncbi request reprint Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients
    Michela Guglieri
    Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, Milano, Italy
    Hum Mutat 29:258-66. 2008
    ..1 years vs. 36.7+/-11.1 years; P=0.0037). Similarly, dysferlin absence was associated with an earlier onset when compared to partial deficiency (20.2+/-standard deviation [SD] 5.2 years vs. 28.4+/-SD 11.2 years; P=0.014)...