Giacomina Rossi

Summary

Affiliation: Istituto Nazionale Neurologico Carlo Besta
Country: Italy

Publications

  1. ncbi request reprint Mutations in MAPT give rise to aneuploidy in animal models of tauopathy
    Giacomina Rossi
    Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy
    Neurogenetics 15:31-40. 2014
  2. doi request reprint Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features
    Giacomina Rossi
    Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy Electronic address
    Neurobiol Aging 35:408-17. 2014
  3. doi request reprint Mutations in MAPT gene cause chromosome instability and introduce copy number variations widely in the genome
    Giacomina Rossi
    Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy
    J Alzheimers Dis 33:969-82. 2013
  4. doi request reprint New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization
    Giacomina Rossi
    Division of Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    Neurobiol Aging 33:834.e1-6. 2012
  5. doi request reprint A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expression
    Giacomina Rossi
    Division of Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy
    J Alzheimers Dis 23:7-12. 2011
  6. ncbi request reprint A new function of microtubule-associated protein tau: involvement in chromosome stability
    Giacomina Rossi
    Department of Neuropathology, Neurological Institute Carlo Besta, Milano, Italy
    Cell Cycle 7:1788-94. 2008
  7. doi request reprint Variability of the clinical phenotype in an Italian family with dementia associated with an intronic deletion in the GRN gene
    Gabriella Marcon
    Division of Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy DISM, University of Udine, Udine, Italy
    J Alzheimers Dis 26:583-90. 2011
  8. doi request reprint Atypical frontotemporal dementia as a new clinical phenotype of Gerstmann-Straussler-Scheinker disease with the PrP-P102L mutation. Description of a previously unreported Italian family
    Anna Rita Giovagnoli
    Neuropsychology Laboratory, C Besta National Neurological Institute, Via Celoria 11, 20133, Milan, Italy
    Neurol Sci 29:405-10. 2008
  9. doi request reprint Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP
    Orso Bugiani
    Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11 20133, Milan, Italy
    Arch Neurol 67:987-95. 2010
  10. pmc Conversion of the BASE prion strain into the BSE strain: the origin of BSE?
    Raffaella Capobianco
    Fondazione I R C C S Istituto Neurologico Carlo Besta, Milan, Italy
    PLoS Pathog 3:e31. 2007

Collaborators

Detail Information

Publications17

  1. ncbi request reprint Mutations in MAPT give rise to aneuploidy in animal models of tauopathy
    Giacomina Rossi
    Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy
    Neurogenetics 15:31-40. 2014
    ..It is conceivable to hypothesize that in genetic tauopathies the aneuploidy may be present also in central nervous system, possibly contributing to neurodegeneration. ..
  2. doi request reprint Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features
    Giacomina Rossi
    Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy Electronic address
    Neurobiol Aging 35:408-17. 2014
    ..Thus, we disclosed a greater than expected complexity of abnormal features of mutated tau isoforms. Overall our findings suggest a high probability that these mutations are pathogenic...
  3. doi request reprint Mutations in MAPT gene cause chromosome instability and introduce copy number variations widely in the genome
    Giacomina Rossi
    Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy
    J Alzheimers Dis 33:969-82. 2013
    ..In summary, our findings indicate a role of tau in genome and chromosome stability that can be ascribed to its function as a microtubule-associated protein as well as a protein protecting chromatin integrity through interaction with DNA...
  4. doi request reprint New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization
    Giacomina Rossi
    Division of Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    Neurobiol Aging 33:834.e1-6. 2012
    ..Our findings highlight the importance of genetic analysis also in sporadic forms of FTLD, and the role of in vitro studies to evaluate the pathologic features of new mutations...
  5. doi request reprint A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expression
    Giacomina Rossi
    Division of Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy
    J Alzheimers Dis 23:7-12. 2011
    ..Being predictive for GRN null mutations, plasma progranulin dosage should be included in diagnostic work-up of dementia...
  6. ncbi request reprint A new function of microtubule-associated protein tau: involvement in chromosome stability
    Giacomina Rossi
    Department of Neuropathology, Neurological Institute Carlo Besta, Milano, Italy
    Cell Cycle 7:1788-94. 2008
    ..Our findings argue for a role of tau in chromosome stability by means of its interaction with both microtubules and chromatin...
  7. doi request reprint Variability of the clinical phenotype in an Italian family with dementia associated with an intronic deletion in the GRN gene
    Gabriella Marcon
    Division of Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy DISM, University of Udine, Udine, Italy
    J Alzheimers Dis 26:583-90. 2011
    ..Our data extend the phenotypic spectrum and the complexity of neurodegenerative diseases linked to GRN mutations...
  8. doi request reprint Atypical frontotemporal dementia as a new clinical phenotype of Gerstmann-Straussler-Scheinker disease with the PrP-P102L mutation. Description of a previously unreported Italian family
    Anna Rita Giovagnoli
    Neuropsychology Laboratory, C Besta National Neurological Institute, Via Celoria 11, 20133, Milan, Italy
    Neurol Sci 29:405-10. 2008
    ..Genetic examination of the PRNP should be included in the diagnostic work-up of patients with poorly classifiable dementia...
  9. doi request reprint Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP
    Orso Bugiani
    Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11 20133, Milan, Italy
    Arch Neurol 67:987-95. 2010
    ..To report the clinical, genetic, neuroimaging, and neuropathologic studies of patients with the hereditary cerebral hemorrhage with amyloidosis linked to the APP E693K mutation...
  10. pmc Conversion of the BASE prion strain into the BSE strain: the origin of BSE?
    Raffaella Capobianco
    Fondazione I R C C S Istituto Neurologico Carlo Besta, Milan, Italy
    PLoS Pathog 3:e31. 2007
    ....
  11. ncbi request reprint Sporadic Creutzfeldt-Jakob disease: the extent of microglia activation is dependent on the biochemical type of PrPSc
    Gianfranco Puoti
    Istituto Nazionale Neurologico Carlo Besta, Milano, and Dipartimento di Scienze Neurologiche, Seconda Universita di Napoli, Napoli, Italy
    J Neuropathol Exp Neurol 64:902-9. 2005
    ..These findings support the view that the phenotypic heterogeneity of sporadic CJD is largely determined by the physicochemical properties of distinct PrPSc conformers...
  12. doi request reprint The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome
    Giacomina Rossi
    Division of Neuropathology, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy
    Mov Disord 23:892-5. 2008
    ..In conclusion, the MAPT G389R mutation shows phenotypic variability resulting in both FTD and CBS. The mutation also demonstrates incomplete penetrance. Corticospinal tract degeneration is an exceptional finding...
  13. doi request reprint A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype
    Gabriella Marcon
    Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy
    J Alzheimers Dis 16:509-11. 2009
    ....
  14. pmc Role of plasminogen in propagation of scrapie
    Mario Salmona
    Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy
    J Virol 79:11225-30. 2005
    ..In conclusion, our data indicate that plasminogen has no major effect on the survival of scrapie agent-infected mice...
  15. ncbi request reprint A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein gene
    Paola Soliveri
    Divisions of Neurology I, Istituto Neurologico Nazionale Carlo Besta, Milan, Italy
    Arch Neurol 60:1454-6. 2003
    ..Few cases of frontotemporal dementia parkinsonism (FTDP-17) have been described in the literature. To our knowledge, this is the first Italian case...
  16. ncbi request reprint Familial frontotemporal dementia associated with the novel MAPT mutation T427M
    Giorgio Giaccone
    J Neurol 252:1543-5. 2005
  17. ncbi request reprint Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene
    Giacomina Rossi
    Ann Neurol 55:448. 2004