Genomes and Genes
Affiliation: Istituto Nazionale Neurologico Carlo Besta
- Mutations in MAPT give rise to aneuploidy in animal models of tauopathyGiacomina 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. ..
- Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional featuresGiacomina 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...
- Mutations in MAPT gene cause chromosome instability and introduce copy number variations widely in the genomeGiacomina 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...
- New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterizationGiacomina 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...
- A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expressionGiacomina 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...
- A new function of microtubule-associated protein tau: involvement in chromosome stabilityGiacomina 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...
- Variability of the clinical phenotype in an Italian family with dementia associated with an intronic deletion in the GRN geneGabriella 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...
- Atypical frontotemporal dementia as a new clinical phenotype of Gerstmann-Straussler-Scheinker disease with the PrP-P102L mutation. Description of a previously unreported Italian familyAnna 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...
- Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APPOrso 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...
- 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....
- Sporadic Creutzfeldt-Jakob disease: the extent of microglia activation is dependent on the biochemical type of PrPScGianfranco 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...
- The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndromeGiacomina 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...
- A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotypeGabriella Marcon
Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy
J Alzheimers Dis 16:509-11. 2009....
- Role of plasminogen in propagation of scrapieMario 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...
- A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein genePaola 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...
- Familial frontotemporal dementia associated with the novel MAPT mutation T427MGiorgio Giaccone
J Neurol 252:1543-5. 2005
- Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau geneGiacomina Rossi
Ann Neurol 55:448. 2004