Roberto Del Bo

Summary

Affiliation: University of Milan
Country: Italy

Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. ncbi request reprint Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation
    R Del Bo
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena Foundation, Milan, Italy
    Neurology 66:752-4. 2006
  6. 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
  7. 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
  8. doi request reprint TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations
    R Del Bo
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, Milan, Italy
    Eur J Neurol 16:727-32. 2009
  9. 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
  10. 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

Detail Information

Publications48

  1. 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...
  2. 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...
  3. 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...
  4. 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...
  5. ncbi request reprint Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation
    R Del Bo
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena Foundation, Milan, Italy
    Neurology 66:752-4. 2006
    ..A novel heterozygous missense GARS gene mutation (D500N) was identified...
  6. 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...
  7. 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...
  8. doi request reprint TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations
    R Del Bo
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, Milan, Italy
    Eur J Neurol 16:727-32. 2009
    ..Mutations in the TARDBP gene, which codes for TDP-43, have been recently reported in familial and sporadic amyotrophic lateral sclerosis (ALS) cases...
  9. 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...
  10. 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...
  11. 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...
  12. 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...
  13. 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...
  14. 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
    ....
  15. 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...
  16. 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...
  17. 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...
  18. 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
    ....
  19. 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...
  20. 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...
  21. 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
    ....
  22. doi request reprint C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect
    Antonia Ratti
    Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy
    Neurobiol Aging 33:2528.e7-14. 2012
    ....
  23. 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...
  24. ncbi request reprint VEGF gene variability and type 1 diabetes: evidence for a protective role
    Roberto Del Bo
    Department of Neurological Sciences, Centro Dino Ferrari, University of Milan, Milan, Italy
    Immunogenetics 58:107-12. 2006
    ..In conclusion, because the expected functional consequence of both genotype combinations is a reduced VEGF expression in diabetic patients, we propose a protective role of VEGF in the development of type 1 diabetes...
  25. 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...
  26. doi request reprint Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up
    Francesca Magri
    Department of Neurological Sciences, Dino Ferrari Centre, University of Milan, I R C C S Foundation Ca Granda, Ospedale Maggiore Policlinico, Padiglione Ponti, Via Francesco Sforza 35, 20122 Milan, Italy
    J Neurol 258:1610-23. 2011
    ..Furthermore, several clinical trials are ongoing or are currently planned, some of which aim to target specific DMD mutations: a robust natural history is therefore essential to correctly design these experimental trials...
  27. 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...
  28. 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...
  29. doi request reprint Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis
    Daniela Calini
    Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Via Zucchi 18, 20095 Cusano Milanino, Milan, Italy
    Neurobiol Aging 34:2695.e11-2. 2013
    ..We failed to find variants in each cohort. Our results suggest that mutations in hnRNPA1, A2/B1, and A3 genes are a rare finding in ALS. ..
  30. doi request reprint Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia
    Cinzia Gellera
    Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    J Neurol Neurosurg Psychiatry 84:183-7. 2013
    ..The aim of our study was to analyse the UBQLN2 gene in a large cohort of patients with familial (FALS) and sporadic (SALS) amyotrophic lateral sclerosis, with or without frontotemporal dementia (FTD), and in patients with FTD...
  31. 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
    ....
  32. 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)...
  33. ncbi request reprint Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion
    Marco Crimi
    Centro Dino Ferrari, Centro di Eccellenza per le malattie Neuro Degenerative, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, I R C C S Ospedale Maggiore Policlinico, Milano, Italy
    Eur J Hum Genet 11:896-8. 2003
    ..MtDNA haplotype might modulate the clinical expression of mitochondrial encephalomyopathies due to mtDNA macrodeletions...
  34. ncbi request reprint Parkin polymorphisms and environmental exposure: decrease in age at onset of Parkinson's disease
    Isabella Ghione
    Centro per il Morbo di Parkinson, Centro Dino Ferrari, Department of Neurological Sciences, University of Milan, Fondazione I R C C S, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy
    Neurotoxicology 28:698-701. 2007
    ..Individuals with environmental/occupational exposure should be screened for the presence of parkin SNPs...
  35. doi request reprint Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis
    Cinzia Tiloca
    Department of Neurology and Laboratory of Neuroscience, IRCCS, Istituto Auxologico Italiano, Milan, Italy
    Neurobiol Aging 33:630.e1-2. 2012
    ..Bioinformatical analyses predicted no changes in splicing process or microRNA binding sites. Our results do not confirm a main contribution of VCP gene to familial ALS in the Italian population...
  36. ncbi request reprint Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy
    Roberto Del Bo
    Dipartimento di Scienze Neurologiche, Centro Dino Ferrari, Universita degli Studi di Milano, IRCCS Ospedale Maggiore Policlinico, Via F Sforza 35, Milano 20122, Italy
    Muscle Nerve 28:113-7. 2003
    ..This is the first deletion event observed in a GNE allele and expands the molecular pathogenesis of autosomal-recessive h-IBM...
  37. 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...
  38. ncbi request reprint POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions
    Alessio Di Fonzo
    Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, I R C C S Ospedale Maggiore Policlinico and Centro di Eccellenza per le Malattie Neurodegenerative, Milano, Italy
    Hum Mutat 22:498-9. 2003
    ..Only patients presenting PEO as part of their clinical phenotype had POLG mutations, in seven of them together with myopathic signs and in one with a sensori-motor peripheral neuropathy...
  39. ncbi request reprint Wild-type bone marrow cells ameliorate the phenotype of SOD1-G93A ALS mice and contribute to CNS, heart and skeletal muscle tissues
    Stefania Corti
    Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, IRCCS Ospedale Maggiore Policlinico, Milano, Italy
    Brain 127:2518-32. 2004
    ..However, our data suggest that further studies aimed at improving the degree of tissue chimerism by BM-derived cells may provide valuable insights into strategies to slow ALS progression...
  40. pmc Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia
    Cinzia Tiloca
    Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy
    Neurobiol Aging 34:1517.e9-10. 2013
    ..G15G in another patient, but none in a panel of 1512 control subjects. Our results suggest that PFN1 mutations in sporadic ALS and in FTD are rare, at least in the Italian population...
  41. ncbi request reprint A collection of 33 novel human mtDNA homoplasmic variants
    Marco Crimi
    Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, I R C C S Ospedale Maggiore Policlinico and Centro di Eccellenza per le Malattie Neurodegenerative, Milan, Italy
    Hum Mutat 20:409. 2002
    ..This work can therefore help complete the already ample mtDNA polymorphism existent database...
  42. pmc Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation
    Giulietta Riboldi
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
    Case Rep Neurol 3:62-8. 2011
    ..The predominant motor involvement presented by our patient is an uncommon occurrence and demonstrates the clinical heterogeneity of TTR amyloidosis...
  43. pmc The brain is hypothermic in patients with mitochondrial diseases
    Mario Rango
    1 Department of Neurological Sciences, IRCCS Ca Granda Ospedale Maggiore Policlinico Foundation, University of Milan, Milan, Italy 2 Magnetic Resonance Spectroscopy Center, IRCCS Ca Granda Ospedale Maggiore Policlinico Foundation, University of Milan, Milan, Italy
    J Cereb Blood Flow Metab 34:915-20. 2014
    ..In patients with mitochondrial diseases, the brain is hypothermic because of malfunctioning oxidative phosphorylation. Neuronal activity is reduced at rest, during physiologic brain stimulation, and after stimulation. ..
  44. doi request reprint Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation
    Daniela Galimberti
    Neurology Unit, Department of Phatophysiology and Transplantation, University of Milan, Fondazione Cà Granda, Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Policlinico, Italy
    Biol Psychiatry 74:384-91. 2013
    ..Atypical presentations have been described, particularly psychosis...
  45. ncbi request reprint Skeletal muscle differentiation potential of human adult bone marrow cells
    Patrizia Bossolasco
    Fondazione Matarelli, Ospedale Fatebenefratelli e Oftalmico, Milan, Italy
    Exp Cell Res 295:66-78. 2004
    ..Further improvements might allow new approaches to cell-mediated therapies for muscular diseases...
  46. ncbi request reprint Polyneuropathy in POEMS syndrome: role of angiogenic factors in the pathogenesis
    Marina Scarlato
    Department of Neurological Sciences, Centro Dino Ferrari, University of Milan, I R C C S Ospedale Maggiore Policlinico, Italy
    Brain 128:1911-20. 2005
    ..In conclusion, establishing the role of angiogenic factors in polyneuropathy may lead to a better understanding of the effects of VEGF and EPO on microangiopathy and Schwann cell function...
  47. 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...
  48. ncbi request reprint Altered glutamate uptake in peripheral tissues from Down syndrome patients
    Barbara Begni
    Department of Neuroscience and Biomedical Technologies, University of Milano Bicocca, Milan, Italy
    Neurosci Lett 343:73-6. 2003
    ..Systemic impairment of glutamate uptake in DS is suggested, probably related to APP overexpression and mitochondrial dysfunction. Such mechanisms may contribute to neurodegeneration and dementia development in these patients...