Nereo Bresolin

Summary

Affiliation: University of Milan
Country: Italy

Publications

  1. pmc Intraarterial injection of muscle-derived CD34(+)Sca-1(+) stem cells restores dystrophin in mdx mice
    Y Torrente
    Instituto de Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale Maggiore Policlinico, 20122 Milan, Italy
    J Cell Biol 152:335-48. 2001
  2. ncbi request reprint Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis
    G P Comi
    Istituto di Clinica Neurologica, Universita degli Studi di Milano, IRCCS, Ospedale Maggiore Policlinico, Italy
    Ann Neurol 50:202-7. 2001
  3. ncbi request reprint Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients
    Roberto Del Bo
    Department of Neurological Sciences, Centro Dino Ferrari, Padiglione Ponti, University of Milan, IRCCS Ospedale Maggiore Policlinico, 20122, Via F Sforza, 35, 20122 Milan, Italy
    J Neurol Sci 202:85-91. 2002
  4. ncbi request reprint The 129 codon polymorphism of the prion protein gene influences earlier cognitive performance in Down syndrome subjects
    Roberto Del Bo
    Dipartimento di Scienze Neurologiche, Padiglione Ponti, I R C S S Ospedale Maggiore Policlinico, Via F Sforza, 35, 20122 Milan, Italy
    J Neurol 250:688-92. 2003
  5. ncbi request reprint High mutational burden in the mtDNA control region from aged muscles: a single-fiber study
    Roberto Del Bo
    Centro Dino Ferrari, Centro di Eccellenza per le Malattie Neurodegenerative, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, I R C C S Ospedale Maggiore Policlinico, Via F Sforza, 35, 20122 Milan, Italy
    Neurobiol Aging 24:829-38. 2003
  6. ncbi request reprint Multipotentiality, homing properties, and pyramidal neurogenesis of CNS-derived LeX(ssea-1)+/CXCR4+ stem cells
    Stefania Corti
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation, Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy
    FASEB J 19:1860-2. 2005
  7. doi request reprint Restoration of human dystrophin following transplantation of exon-skipping-engineered DMD patient stem cells into dystrophic mice
    Rachid Benchaouir
    Stem Cell Laboratory, Department of Neurological Sciences, Fondazione IRCCS Ospedale Maggiore Policlinico, Centro Dino Ferrari, University of Milan, Via F Sforza 35, 20122 Milan, Italy
    Cell Stem Cell 1:646-57. 2007
  8. ncbi request reprint Neural stem cells LewisX+ CXCR4+ modify disease progression in an amyotrophic lateral sclerosis model
    Stefania Corti
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy
    Brain 130:1289-305. 2007
  9. doi request reprint Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease
    Miryam Carecchio
    Department of Neurological Sciences, Dino Ferrari Centre, IRCCS Fondazione Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
    J Neurol Sci 287:291-3. 2009
  10. ncbi request reprint Gender-specific influence of the chromosome 16 chemokine gene cluster on the susceptibility to Multiple Sclerosis
    Daniela Galimberti
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Via F Sforza, 35, 20122, Milan, Italy
    J Neurol Sci 267:86-90. 2008

Detail Information

Publications73

  1. pmc Intraarterial injection of muscle-derived CD34(+)Sca-1(+) stem cells restores dystrophin in mdx mice
    Y Torrente
    Instituto de Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale Maggiore Policlinico, 20122 Milan, Italy
    J Cell Biol 152:335-48. 2001
    ..Our results showed that the muscle-derived stem cells first attach to the capillaries of the muscles and then participate in regeneration after muscle damage...
  2. ncbi request reprint Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis
    G P Comi
    Istituto di Clinica Neurologica, Universita degli Studi di Milano, IRCCS, Ospedale Maggiore Policlinico, Italy
    Ann Neurol 50:202-7. 2001
    ..Muscle beta-enolase deficiency should be considered in the differential diagnosis of metabolic myopathies due to inherited defects of distal glycolysis...
  3. ncbi request reprint Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients
    Roberto Del Bo
    Department of Neurological Sciences, Centro Dino Ferrari, Padiglione Ponti, University of Milan, IRCCS Ospedale Maggiore Policlinico, 20122, Via F Sforza, 35, 20122 Milan, Italy
    J Neurol Sci 202:85-91. 2002
    ..This observation may be relevant to the definition of the molecular pathogenesis of these latter syndromes...
  4. ncbi request reprint The 129 codon polymorphism of the prion protein gene influences earlier cognitive performance in Down syndrome subjects
    Roberto Del Bo
    Dipartimento di Scienze Neurologiche, Padiglione Ponti, I R C S S Ospedale Maggiore Policlinico, Via F Sforza, 35, 20122 Milan, Italy
    J Neurol 250:688-92. 2003
    ..Our findings provide evidence that variability of the PRNP gene at codon 129 might contribute to accelerating the rate of earlier cognitive decline in DS subjects...
  5. ncbi request reprint High mutational burden in the mtDNA control region from aged muscles: a single-fiber study
    Roberto Del Bo
    Centro Dino Ferrari, Centro di Eccellenza per le Malattie Neurodegenerative, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, I R C C S Ospedale Maggiore Policlinico, Via F Sforza, 35, 20122 Milan, Italy
    Neurobiol Aging 24:829-38. 2003
    ....
  6. ncbi request reprint Multipotentiality, homing properties, and pyramidal neurogenesis of CNS-derived LeX(ssea-1)+/CXCR4+ stem cells
    Stefania Corti
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation, Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy
    FASEB J 19:1860-2. 2005
    ..The isolation of a specific neural stem cell population could offer major advantages to neuronal replacement strategies...
  7. doi request reprint Restoration of human dystrophin following transplantation of exon-skipping-engineered DMD patient stem cells into dystrophic mice
    Rachid Benchaouir
    Stem Cell Laboratory, Department of Neurological Sciences, Fondazione IRCCS Ospedale Maggiore Policlinico, Centro Dino Ferrari, University of Milan, Via F Sforza 35, 20122 Milan, Italy
    Cell Stem Cell 1:646-57. 2007
    ..These data demonstrate that autologous engrafting of blood or muscle-derived CD133+ cells, previously genetically modified to reexpress a functional dystrophin, represents a promising approach for DMD...
  8. ncbi request reprint Neural stem cells LewisX+ CXCR4+ modify disease progression in an amyotrophic lateral sclerosis model
    Stefania Corti
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy
    Brain 130:1289-305. 2007
    ..Our results support the therapeutic potential of neural stem cell fractions through both neurogenesis and growth factors release in motor neuron disorders...
  9. doi request reprint Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease
    Miryam Carecchio
    Department of Neurological Sciences, Dino Ferrari Centre, IRCCS Fondazione Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
    J Neurol Sci 287:291-3. 2009
    ..We thus encourage the inclusion of this non-invasive and easy test in clinical practice...
  10. ncbi request reprint Gender-specific influence of the chromosome 16 chemokine gene cluster on the susceptibility to Multiple Sclerosis
    Daniela Galimberti
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Via F Sforza, 35, 20122, Milan, Italy
    J Neurol Sci 267:86-90. 2008
    ..06-0.50), whereas no significant differences were observed in females. Therefore, the presence of the AT haplotype in chromosome 16 chemokine cluster is likely to confer a decreased risk of developing MS, particularly in males...
  11. ncbi request reprint Isolation and characterization of murine neural stem/progenitor cells based on Prominin-1 expression
    Stefania Corti
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation, Ospedale Maggiore, Policlinico Mangiagalli and Regina Elena, Padiglione Ponti, Milan, Italy
    Exp Neurol 205:547-62. 2007
    ....
  12. doi request reprint Candidate gene analysis of semaphorins in patients with Alzheimer's disease
    Chiara Villa
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Fondazione Ospedale Maggiore Policlinico, Milan, Italy
    Neurol Sci 31:169-73. 2010
    ..This high degree of conservation of Sema3A suggests a very important role for this protein. However, neither Sema3A nor Sema4D likely influence the susceptibility to AD...
  13. ncbi request reprint Systemic transplantation of c-kit+ cells exerts a therapeutic effect in a model of amyotrophic lateral sclerosis
    Stefania Corti
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
    Hum Mol Genet 19:3782-96. 2010
    ..These findings suggest that this type of somatic cell transplantation strategy merits further investigation as a possible effective therapy for ALS and other neurodegenerative diseases...
  14. ncbi request reprint CCR2-64I polymorphism and CCR5Delta32 deletion in patients with Alzheimer's disease
    Daniela Galimberti
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Via F Sforza 35, 20122 Milan, Italy
    J Neurol Sci 225:79-83. 2004
    ..Stratifying by the presence of ApoE varepsilon4 allele, gender or age at onset, no differences in either allele frequencies were observed...
  15. ncbi request reprint P-selectin glycoprotein ligand-1 variable number of tandem repeats (VNTR) polymorphism in patients with multiple sclerosis
    Diego Scalabrini
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Via F Sforza, 35, 20122 Milan, Italy
    Neurosci Lett 388:149-52. 2005
    ..As this allele has been demonstrated to have a very low efficiency in mediating lymphocyte binding to brain endothelium during attacks, its high frequency in PP-MS could be related to the absence of exacerbations in such patients...
  16. ncbi request reprint Is M129V of PRNP gene associated with Alzheimer's disease? A case-control study and a meta-analysis
    Roberto Del Bo
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan and Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Padiglione Ponti, Milano, Italy
    Neurobiol Aging 27:770.e1-770.e5. 2006
    ..We also observed that MM genotype and M allele represent a risk factor for AD, independently from the ethnic background, providing a significant but modest association between this polymorphism and AD...
  17. ncbi request reprint Fas small interfering RNA reduces motoneuron death in amyotrophic lateral sclerosis mice
    Federica Locatelli
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Padiglione Ponti, Via Francesco Sforza 35, 20122 Milan, Italy
    Ann Neurol 62:81-92. 2007
    ..This study investigates the role of Fas-linked motoneuron death in the pathogenesis of ALS...
  18. doi request reprint Role of OLR1 and its regulating hsa-miR369-3p in Alzheimer's disease: genetics and expression analysis
    Maria Serpente
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy
    J Alzheimers Dis 26:787-93. 2011
    ..Nevertheless, the limited power of the study requires further investigations with a larger sample size...
  19. ncbi request reprint VCAM-1 expression on dystrophic muscle vessels has a critical role in the recruitment of human blood-derived CD133+ stem cells after intra-arterial transplantation
    Manuela Gavina
    Stem Cell Laboratory, Department of Neurological Sciences, IRCCS, Centro Dino Ferrari, University of Milan, Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy
    Blood 108:2857-66. 2006
    ....
  20. 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...
  21. 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...
  22. 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...
  23. ncbi request reprint Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation
    Anna Bersano
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F Sforza 35, 20122 Milan, Italy
    Neurobiol Aging 30:752-8. 2009
    ..These findings suggest VCP gene investigation even in apparently sporadic cases...
  24. ncbi request reprint Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1
    Stefania Corti
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy
    Hum Mol Genet 15:167-87. 2006
    ..The presence of DCX-expressing cells in adult nmd spinal cord suggests that both exogenous and endogenous neurogeneses may contribute to the observed nmd phenotype amelioration...
  25. pmc Correlation of circulating CD133+ progenitor subclasses with a mild phenotype in Duchenne muscular dystrophy patients
    Chiara Marchesi
    Stem Cell Laboratory, Department of Neurological Science, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Maggiore Policlinico, Centro Dino Ferrari, University of Milan, Milan, Italy
    PLoS ONE 3:e2218. 2008
    ..Here we assessed whether the levels of certain stem cells may predict the progression of Duchenne muscular dystrophy (DMD)...
  26. ncbi request reprint Identification of a primitive brain-derived neural stem cell population based on aldehyde dehydrogenase activity
    Stefania Corti
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, Istituto di Ricovero e Cura a Carattere, Scientifco Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Italy
    Stem Cells 24:975-85. 2006
    ....
  27. ncbi request reprint Influence of the Glu298Asp polymorphism of NOS3 on age at onset and homocysteine levels in AD patients
    Ilaria Guidi
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Via F Sforza 35, 20122 Milan, Italy
    Neurobiol Aging 26:789-94. 2005
    ..Besides, a contribution of the Glu/Glu genotype in increasing tHcy levels has been observed...
  28. ncbi request reprint Is erythropoietin gene a modifier factor in amyotrophic lateral sclerosis?
    Serena Ghezzi
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Padiglione Ponti Via F Sforza 35, 20122 Milano, Italy
    Neurobiol Aging 30:842-4. 2009
    ..However, further studies on larger cohort of patients are needed to confirm the evidence of EPO gene as modifier factor...
  29. ncbi request reprint Candidate gene analysis of SPARCL1 gene in patients with multiple sclerosis
    Diego Scalabrini
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Milan, Italy
    Neurosci Lett 425:173-6. 2007
    ..However, the frequency of the C/C genotype of rs1049544 was decreased in male patients, possibly conferring a lower risk of developing MS in male population. Further studies are needed to clarify this issue...
  30. doi request reprint MCP-1 A-2518G polymorphism: effect on susceptibility for frontotemporal lobar degeneration and on cerebrospinal fluid MCP-1 levels
    Daniela Galimberti
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Fondazione Ospedale Maggiore Policlinico, Milan, Italy
    J Alzheimers Dis 17:125-33. 2009
    ..21 +/- 44.57 versus 395.87 +/- 21.92 pg/ml, P = 0.045). The MCP-1 A-2518G SNP acts as protective factor for sporadic FTLD, possibly by influencing MCP-1 production...
  31. pmc No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort
    Roberto Del Bo
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Milan, Italy
    Neurobiol Aging 32:1157-8. 2011
    ..The p.S120Y variant may characterize rare patients with SALS, although its pathogenetic mechanism remains to be elucidated...
  32. ncbi request reprint Candidate gene analysis of IP-10 gene in patients with Alzheimer's disease
    Eliana Venturelli
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Italy
    Neurosci Lett 404:217-21. 2006
    ..However, a novel rare polymorphism has been identified, which could exert a role in AD susceptibility. Thus, further studies on larger populations are needed before confidently excluding IP-10 as a susceptibility gene for AD...
  33. ncbi request reprint New mutations in TK2 gene associated with mitochondrial DNA depletion
    Sara Galbiati
    Centro Dino Ferrari, Department of Neurological Sciences, University of Milan, I R C C S Ospedale Maggiore Policlinico, Milano, Italy
    Pediatr Neurol 34:177-85. 2006
    ....
  34. doi request reprint Role of hnRNP-A1 and miR-590-3p in neuronal death: genetics and expression analysis in patients with Alzheimer disease and frontotemporal lobar degeneration
    Chiara Villa
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy
    Rejuvenation Res 14:275-81. 2011
    ..0237). According to these findings, hnRNP-A1 and its transcription regulatory factor miR-590-3p are disregulated in patients with AD, and the hnRNP-A1 rs7967622 C/C genotype is likely a risk factor for FTLD in male populations...
  35. 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...
  36. ncbi request reprint Ex vivo expansion of human circulating myogenic progenitors on cluster-assembled nanostructured TiO2
    Marzia Belicchi
    Stem Cell Laboratory, Department of Neurological Sciences, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Centro Dino Ferrari, Universita di Milano, Padiglione Ponti, Via F Sforza 35, 20122 Milano, Italy
    Biomaterials 31:5385-96. 2010
    ..The exploitation of cluster-assembled ns-TiO(2) substrates for the expansion of CD133+ stem cells in vitro could therefore make the clinical application of these stem cells for the treatment of muscle diseases practical...
  37. ncbi 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...
  38. 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...
  39. doi request reprint Motoneuron transplantation rescues the phenotype of SMARD1 (spinal muscular atrophy with respiratory distress type 1)
    Stefania Corti
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, Istituto di Ricovero e Cura a Carattere Scientifico Foundation Ospedale Maggiore Policlinico, Italy
    J Neurosci 29:11761-71. 2009
    ..This is the first report that functional restoration of motor units with transplanted motoneurons is feasible in an animal model of a human motoneuron disease, opening up new possibilities for therapeutic intervention...
  40. doi request reprint A novel MAPT mutation associated with the clinical phenotype of progressive nonfluent aphasia
    Chiara Villa
    Department of Neurological Sciences, University of Milan, IRCCS Fondazione Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
    J Alzheimers Dis 26:19-26. 2011
    ..The amino acid change likely compromises the ability of tau to properly regulate the dynamic behavior of microtubules...
  41. pmc Minimally invasive transplantation of iPSC-derived ALDHhiSSCloVLA4+ neural stem cells effectively improves the phenotype of an amyotrophic lateral sclerosis model
    Monica Nizzardo
    Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, IRCCS Foundation Ca Granda Ospedale Maggiore Policlinico, Milan 20122, Italy
    Hum Mol Genet 23:342-54. 2014
    ..We conclude that minimally invasive injections of iPSC-derived NSCs can exert a therapeutic effect in ALS. This study contributes to advancements in iPSC-mediated approaches for treating ALS and other neurodegenerative diseases...
  42. ncbi request reprint Oxidative imbalance in patients with mild cognitive impairment and Alzheimer's disease
    Ilaria Guidi
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Via F Sforza 35, 20122 Milan, Italy
    Neurobiol Aging 27:262-9. 2006
    ..ROS levels appear to be correlated with age rather than with a specific dementing disorder, thus leading to the hypothesis that oxidative imbalance observed in AD could be due to a decreased TAC...
  43. ncbi request reprint GRN variability contributes to sporadic frontotemporal lobar degeneration
    Daniela Galimberti
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Fondazione Ospedale Maggiore Policlinico, Milan, Italy
    J Alzheimers Dis 19:171-7. 2010
    ..This SNP is likely located in a regulatory region, thus an effect on GRN mRNA levels may be of mechanistic importance...
  44. 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...
  45. ncbi request reprint Role of VEGF gene variability in longevity: a lesson from the Italian population
    Roberto Del Bo
    Department of Neurological Sciences, Dino Ferrari Centre, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Padiglione Ponti, Milano, Italy
    Neurobiol Aging 29:1917-22. 2008
    ..These results suggest that VEGF gene variability can be inserted among the genetic factors influencing the lifespan...
  46. 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...
  47. pmc Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients
    Francesca Magri
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
    Neuromuscul Disord 22:934-43. 2012
    ..Overall these common clinical, morphological and imaging findings could be useful in differential diagnosis...
  48. 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
    ....
  49. doi request reprint BAG1 is a protective factor for sporadic frontotemporal lobar degeneration but not for Alzheimer's disease
    Eliana Venturelli
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy
    J Alzheimers Dis 23:701-7. 2011
    ..BAG-1 rs706118 SNP likely acts as protective factor for sporadic FTLD, but not for AD, suggesting its specific role in a pathogenic event in FTLD. Nevertheless, a replication study would be needed to confirm these preliminary results...
  50. doi request reprint Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?
    Eliana Venturelli
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy
    Neurosci Lett 482:240-4. 2010
    ..05). The KIF24 rs17350674 polymorphism likely acts as a risk factor for sporadic FTLD, but a replication study would be needed to confirm these preliminary findings...
  51. ncbi request reprint A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy
    Monica Sciacco
    Fondazione IRCCS Ospedale Maggiore Policlinico Mangiagalli e Regina Elena, Dipartimento di Neuroscienze, Centro Dino Ferrari, Via Francesco Sforza, 35 20122 Milano, Italy
    J Neurol Sci 239:21-4. 2005
    ..This mutation is described in Leber's hereditary optic neuropathy (LHON) or in patients with diabetes mellitus...
  52. ncbi request reprint Skeletal muscle gene expression profiling in mitochondrial disorders
    Marco Crimi
    Department of Neurological Science, University of Milan, Milan, Italy
    FASEB J 19:866-8. 2005
    ..PEO(A3243G) may support a role of nuclear background in contributing to these different clinical phenotypes. MEM microarray data are available from GEO database (http://www.ncbi.nlm.nih.gov/geo/) with the accession number: GSE1462...
  53. ncbi request reprint SELPLG and SELP single-nucleotide polymorphisms in multiple sclerosis
    Chiara Fenoglio
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Italy
    Neurosci Lett 394:92-6. 2006
    ..Therefore, none of the SNPs investigated is associated with MS, although this analysis does not conclusively exclude SELPLG and SELP as genetic risk factors for MS as much variation remains untested...
  54. doi request reprint Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation
    Gigliola Fagiolari
    Dipartimento di Scienze Neurologiche, Fondazione Ospedale Maggiore Policlinico, Mangiagalli, Regina Elena IRCCS, Centro Dino Ferrari University of Milan, Milan, Italy
    J Child Neurol 25:312-20. 2010
    ..Therefore, this case suggests that a new gene may be associated with congenital muscular dystrophy with alpha-dystroglycan glycosylation defects, cortical migration defects, and sparing of the cerebellum...
  55. ncbi 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...
  56. ncbi request reprint Intrathecal chemokine synthesis in mild cognitive impairment and Alzheimer disease
    Daniela Galimberti
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Via F Sforza 35, 20122 Milan, Italy
    Arch Neurol 63:538-43. 2006
    ....
  57. 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...
  58. pmc Direct reprogramming of human astrocytes into neural stem cells and neurons
    Stefania Corti
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca Granda Maggiore Hospital Policlinico, Milan, Italy
    Exp Cell Res 318:1528-41. 2012
    ..The restoration of multipotency from human astrocytes has potential in cellular reprogramming of endogenous central nervous system cells in neurological disorders...
  59. doi request reprint Research advances in gene therapy approaches for the treatment of amyotrophic lateral sclerosis
    Monica Nizzardo
    Department of Neurological Sciences, Dino Ferrari Centre, University of Milan, IRCCS Foundation Cà Granda, Ospedale Maggiore Policlinico, Via F Sforza 35, Milan, Italy
    Cell Mol Life Sci 69:1641-50. 2012
    ..We argue that gene therapy offers new opportunities to open the path for clinical progress in treating ALS...
  60. ncbi request reprint The T-786C NOS3 polymorphism in Alzheimer's disease: association and influence on gene expression
    Eliana Venturelli
    Department of Neurological Sciences, Dino Ferrari Center and CEND, University of Milan, IRCCS Ospedale Maggiore Policlinico, Milan, Italy
    Neurosci Lett 382:300-3. 2005
    ....
  61. doi request reprint VEGF genetic variability is associated with increased risk of developing Alzheimer's disease
    Roberto Del Bo
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Milan, Italy
    J Neurol Sci 283:66-8. 2009
    ..These findings provide new evidence for an additional candidate genetic risk factor for AD that can be tested in further studies...
  62. ncbi request reprint Intrathecal levels of IL-6, IL-11 and LIF in Alzheimer's disease and frontotemporal lobar degeneration
    Daniela Galimberti
    Dept of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Via F Sforza 35, 20122 Milan, Italy
    J Neurol 255:539-44. 2008
    ....
  63. ncbi request reprint SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation
    Roberto Del Bo
    Dino Ferrari Centre, Department of Neurological Sciences, IRCCS Foundation, Ospedale Maggiore, Policlinico Mangiagalli and Regina Elena, University of Milan, Via Francesco Sforza 35, Milan 20122, Italy
    Neurogenetics 8:301-5. 2007
    ..This finding is the first independent confirmation that spatacsin loss of function mutations cause ARHPS-TCC...
  64. doi request reprint Expression and genetic analysis of miRNAs involved in CD4+ cell activation in patients with multiple sclerosis
    Chiara Fenoglio
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy
    Neurosci Lett 504:9-12. 2011
    ..miRNA dysregulation may contribute to the pathogenesis of MS and highlights the possibility to define different disease entities with specific miRNAs profile...
  65. pmc Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease
    Chiara Fenoglio
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Fondazione Ospedale Maggiore Policlinico, Milan, Italy
    J Alzheimers Dis 18:603-12. 2009
    ..14, CC = 1.22 +/- 0.23; P = 0.013). These data argue against a direct role of GRN as a susceptibility factor for sporadic AD but support a role of GRN as a disease-modifying gene, possibly contributing to the failure of neuronal survival...
  66. ncbi request reprint Serum MCP-1 levels are increased in mild cognitive impairment and mild Alzheimer's disease
    Daniela Galimberti
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Via F Sforza 35, 20122 Milan, Italy
    Neurobiol Aging 27:1763-8. 2006
    ..Nevertheless, as MCP-1 is likely to play a role in several pathologies with an inflammatory component, a possible usefulness as an early AD biomarker would be possible only in combination with other molecules...
  67. pmc Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing
    Francesca Magri
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
    BMC Med Genet 12:37. 2011
    ..The implementation of techniques allowing complete gene sequencing has focused attention on small point mutations and other mechanisms underlying complex rearrangements...
  68. ncbi request reprint Absence of TREM2 polymorphisms in patients with Alzheimer's disease and Frontotemporal Lobar Degeneration
    Chiara Fenoglio
    Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Fondazione Ospedale Maggiore Policlinico, Milan, Italy
    Neurosci Lett 411:133-7. 2007
    ..Further studies, including a functional analysis, are certainly required to clarify the role of TREM2 in neurodegenerative processes...
  69. 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...
  70. ncbi request reprint Absence of angiogenic genes modification in Italian ALS patients
    Roberto Del Bo
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Milan, Italy
    Neurobiol Aging 29:314-6. 2008
    ..Overall, our data argue against the hypothesis of both genes as risk factors for motoneuron neurodegeneration, at least in an Italian population...
  71. doi request reprint Phenotypic heterogeneity of the GRN Asp22fs mutation in a large Italian kindred
    Anna M Pietroboni
    Department of Neurological Sciences, University of Milan, IRCCS Fondazione Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
    J Alzheimers Dis 24:253-9. 2011
    ....
  72. ncbi request reprint Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects
    Elisabetta D'Adda
    Centro Dino Ferrari, Istituto di Clinica Neurologica, Ospedale Maggiore, IRCCS, Via F Sforza 35, 20122, Milano, Italy
    J Neurol 253:1399-403. 2006
    ..We noted no follow-up differences in terms of CK modifications between subjects with pathological EMG and/or muscle biopsy findings and those with normal findings at first examination...
  73. ncbi request reprint Vascular endothelial growth factor gene variability is associated with increased risk for AD
    Roberto Del Bo
    Department of Neurological Sciences, Dino Ferrari Centre and Centre of Excellence on Neurodegenerative Diseases, University of Milan, I R C C S Ospedale Maggiore Policlinico, Via F Sforza 35, 20122 Milan, Italy
    Ann Neurol 57:373-80. 2005
    ..These findings suggest that polymorphisms within the promoter region of the VEGF gene confer greater risk for AD, probably by reducing its neuroprotective effect, and confirm the biological role of VEGF in neurodegenerative processes...