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8. GSK3β genetic variability in patients with Multiple Sclerosis

Author

Galimberti, Daniela, MacMurray, James, Scalabrini, Diego, Fenoglio, Chiara, De Riz, Milena, Comi, Cristoforo, Comings, David, Cortini, Francesca, Villa, Chiara, Serpente, Maria, Cantoni, Claudia, Ridolfi, Elisa, Fardipoor, Ma-Hin, Leone, Maurizio, Monaco, Francesco, Bresolin, Nereo, and Scarpini, Elio

Published
2011
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9. Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?

Author

Venturelli, Eliana, primary, Villa, Chiara, additional, Fenoglio, Chiara, additional, Clerici, Francesca, additional, Marcone, Alessandra, additional, Benussi, Luisa, additional, Ghidoni, Roberta, additional, Gallone, Salvatore, additional, Scalabrini, Diego, additional, Cortini, Francesca, additional, Fumagalli, Giorgio, additional, Cappa, Stefano, additional, Binetti, Giuliano, additional, Franceschi, Massimo, additional, Rainero, Innocenzo, additional, Giordana, Maria Teresa, additional, Mariani, Claudio, additional, Bresolin, Nereo, additional, Scarpini, Elio, additional, and Galimberti, Daniela, additional

Published
2010
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10. P1-092: Chromosome 9 and sporadic Frontotemporal Lobar Degeneration: KIF24, but not UBAP1, is a risk factor in Italian population

Author

Galimberti, Daniela, primary, Venturelli, Eliana, additional, Villa, Chiara, additional, Fenoglio, Chiara, additional, Clerici, Francesca, additional, Marcone, Alessandra, additional, Benussi, Luisa, additional, Ghidoni, Roberta, additional, Gallone, Salvatore, additional, Scalabrini, Diego, additional, Cortini, Francesca, additional, Cappa, Stefano, additional, Binetti, Giuliano, additional, Franceschi, Massimo, additional, Rainero, Innocenzo, additional, Giordana, Maria Teresa, additional, Mariani, Claudio, additional, Bresolin, Nereo, additional, and Scarpini, Elio, additional

Published
2010
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11. GRN Variability Contributes to Sporadic Frontotemporal Lobar Degeneration

Author

Galimberti, Daniela, primary, Fenoglio, Chiara, additional, Cortini, Francesca, additional, Serpente, Maria, additional, Venturelli, Eliana, additional, Villa, Chiara, additional, Clerici, Francesca, additional, Marcone, Alessandra, additional, Benussi, Luisa, additional, Ghidoni, Roberta, additional, Gallone, Salvatore, additional, Scalabrini, Diego, additional, Restelli, Ilaria, additional, Boneschi, Filippo Martinelli, additional, Cappa, Stefano, additional, Binetti, Giuliano, additional, Mariani, Claudio, additional, Rainero, Innocenzo, additional, Giordana, Maria Teresa, additional, Bresolin, Nereo, additional, and Scarpini, Elio, additional

Published
2010
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12. Cerebrospinal fluid progranulin levels in patients with different multiple sclerosis subtypes

Author

De Riz, Milena, primary, Galimberti, Daniela, additional, Fenoglio, Chiara, additional, Piccio, Laura M., additional, Scalabrini, Diego, additional, Venturelli, Eliana, additional, Pietroboni, Anna, additional, Piola, Mirko, additional, Naismith, Robert T., additional, Parks, Becky J., additional, Fumagalli, Giorgio, additional, Bresolin, Nereo, additional, Cross, Anne H., additional, and Scarpini, Elio, additional

Published
2010
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14. Rs5848 Variant Influences GRN mRNA Levels in Brain and Peripheral Mononuclear Cells in Patients with Alzheimer's Disease

Author

Fenoglio, Chiara, primary, Galimberti, Daniela, additional, Cortini, Francesca, additional, Kauwe, John S.K., additional, Cruchaga, Carlos, additional, Venturelli, Eliana, additional, Villa, Chiara, additional, Serpente, Maria, additional, Scalabrini, Diego, additional, Mayo, Kevin, additional, Piccio, Laura M., additional, Clerici, Francesca, additional, Albani, Diego, additional, Mariani, Claudio, additional, Forloni, Gianluigi, additional, Bresolin, Nereo, additional, Goate, Alison M., additional, and Scarpini, Elio, additional

Published
2009
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15. MCP-1 A-2518G Polymorphism: Effect on Susceptibility for Frontotemporal Lobar Degeneration and on Cerebrospinal Fluid MCP-1 Levels

Author

Galimberti, Daniela, primary, Venturelli, Eliana, additional, Villa, Chiara, additional, Fenoglio, Chiara, additional, Clerici, Francesca, additional, Marcone, Alessandra, additional, Benussi, Luisa, additional, Cortini, Francesca, additional, Scalabrini, Diego, additional, Perini, Luca, additional, Restelli, Ilaria, additional, Binetti, Giuliano, additional, Cappa, Stefano, additional, Mariani, Claudio, additional, Bresolin, Nereo, additional, and Scarpini, Elio, additional

Published
2009
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18. P3‐219: Progranulin gene mutation scanning in Alzheimer's disease and frontotemporal lobar degeneration: Functional and phenotypic correlations

Author

Galimberti, Daniela, primary, Fenoglio, Chiara, additional, Cortini, Francesca, additional, Venturelli, Eliana, additional, Guidi, Ilaria, additional, Scalabrini, Diego, additional, Villa, Chiara, additional, Marcone, Alessandra, additional, Mandelli, Alessandra, additional, Perini, Luca, additional, Pomati, Simone, additional, Clerici, Francesca, additional, Cappa, Stefano, additional, Mariani, Claudio, additional, Bresolin, Nereo, additional, and Scarpini, Elio, additional

Published
2008
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19. P3-217: Genetic and functional analysis of progranulin gene variants in patients with Alzheimer's disease

Author

Fenoglio, Chiara, primary, Cortini, Francesca, additional, Venturelli, Eliana, additional, Guidi, Ilaria, additional, Scalabrini, Diego, additional, Villa, Chiara, additional, Kauwe, John S.K., additional, Mayo, Kevin, additional, Dalla Valle, Elisabetta, additional, Lovati, Carlo, additional, Mariani, Claudio, additional, Scarpini, Elio, additional, Bresolin, Nereo, additional, Goate, Alison M., additional, and Galimberti, Daniela, additional

Published
2008
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20. Candidate gene analysis of IP-10 gene in patients with Alzheimer's disease

Author

Venturelli, Eliana, primary, Galimberti, Daniela, additional, Fenoglio, Chiara, additional, Lovati, Carlo, additional, Finazzi, Dario, additional, Guidi, Ilaria, additional, Corrà, Barbara, additional, Scalabrini, Diego, additional, Clerici, Francesca, additional, Mariani, Claudio, additional, Forloni, Gianluigi, additional, Bresolin, Nereo, additional, and Scarpini, Elio, additional

Published
2006
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21. P3-167: Absence of mutations in TREM-2 coding region in early onset dementia

Author

Fenoglio, Chiara, primary, Galimberti, Daniela, additional, Venturelli, Eliana, additional, Piccio, Laura, additional, Scalabrini, Diego, additional, Panina, Paola, additional, Buonsanti, Cecilia, additional, Lovati, Carlo, additional, Baron, Pierluigi, additional, Forloni, Gianluigi, additional, Mariani, Claudio, additional, Bresolin, Nereo, additional, and Scarpini, Elio, additional

Published
2006
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23. SELPLG and SELP single-nucleotide polymorphisms in multiple sclerosis

Author

Fenoglio, Chiara, primary, Galimberti, Daniela, additional, Ban, Maria, additional, Maranian, Mel, additional, Scalabrini, Diego, additional, Venturelli, Eliana, additional, Piccio, Laura, additional, De Riz, Milena, additional, Yeo, Tai Wai, additional, Goris, An, additional, Gray, Julia, additional, Bresolin, Nereo, additional, Scarpini, Elio, additional, Compston, Alastair, additional, and Sawcer, Stephen, additional

Published
2006
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24. P-selectin glycoprotein ligand-1 variable number of tandem repeats (VNTR) polymorphism in patients with multiple sclerosis

Author

Scalabrini, Diego, primary, Galimberti, Daniela, additional, Fenoglio, Chiara, additional, Comi, Cristoforo, additional, De Riz, Milena, additional, Venturelli, Eliana, additional, Castelli, Luca, additional, Piccio, Laura, additional, Ronzoni, Marco, additional, Lovati, Carlo, additional, Mariani, Claudio, additional, Monaco, Francesco, additional, Bresolin, Nereo, additional, and Scarpini, Elio, additional

Published
2005
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26. FUS/TLS Genetic Variability in Sporadic Frontotemporal Lobar Degeneration.

Author

Cantoni, Claudia, Fenoglio, Chiara, Cortini, Francesca, Venturelli, Eliana, Villa, Chiara, Clerici, Francesca, Marcone, Alessandra, Benussi, Luisa, Ghidoni, Roberta, Gallone, Salvatore, Scalabrini, Diego, Franceschi, Massimo, Cappa, Stefano, Binetti, Giuliano, Mariani, Claudio, Rainero, Innocenzo, Giordana, Maria Teresa, Bresolin, Nereo, Scarpini, Elio, and Galimberti, Daniela

Subjects
FRONTOTEMPORAL dementia, NUCLEOTIDES, GENETIC polymorphisms, SARCOMA, LIPOSARCOMA
Abstract

Two hundred and fifty one Italian patients with sporadic frontotemporal lobar degeneration (FTLD) and 259 age-matched controls were tested for association with the tagging single nucleotide polymorphisms (SNPs) rs741810 and rs1052352 in the fused in sarcoma/translated in liposarcoma gene (FUS/TLS). Only patients negative for GRN mutations were included. Considering each SNP alone, no differences in either allelic or genotypic frequencies between patients and controls were found (P > 0.05), even stratifying according to gender or the presence of concomitant motor neuron disease. Haplotype analysis failed to detect haplotypes associated with FTLD. According to these results, FUS/TLS is not a susceptibility factor for the development of sporadic FTLD. [ABSTRACT FROM AUTHOR]

Published
2010
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27. Intrathecal levels of IL-6, IL-11 and LIF in Alzheimer's disease and frontotemporal lobar degeneration.

Author

Galimberti, Daniela, Venturelli, Eliana, Fenoglio, Chiara, Guidi, Ilaria, Villa, Chiara, Bergamaschini, Luigi, Cortini, Francesca, Scalabrini, Diego, Baron, Pierluigi, Vergani, Carlo, Bresolin, Nereo, and Scarpini, Elio

Subjects
ALZHEIMER'S patients, BIOMARKERS, CYTOKINES, CEREBROSPINAL fluid, AMYLOID beta-protein
Abstract

Cerebrospinal fluid (CSF) levels of interleukin (IL)-6, IL-11 and leukaemia inhibitory factor (LIF) were evaluated in 43 patients with Alzheimer's disease (AD) and 24 patients with frontotemporal lobar degeneration (FTLD) as compared with 30 agematched controls (CON), and correlated with clinical and demographic data and with CSF biomarkers amyloid beta (Aβ)42, total tau and tau phosphorylated at position 181 (P-tau). CSF IL-11 mean levels were significantly increased in AD and FTLD as compared with CON (6.5 ± 4.6 and 6.6 ± 5.1 versus 3.1 ± 3.3 pg/ml, P = 0.009). IL-6 mean levels did not differ between patients and CON ( P > 0.05),whereas LIF levels were not detectable in patients or in CON. In AD patients, a significantly positive correlation between MMSE scores and IL-11 CSF concentration was observed (r = 0.344, P = 0.028). No correlations with CSF Aβ42, total tau and P-tau were found. IL-11, but not IL-6 levels are increased in AD and FTLD, and the highest peaks were observed in patients with a less severe degree of cognitive deterioration, therefore suggesting a role of this cytokine in early phases of neurodegeneration. [ABSTRACT FROM AUTHOR]

Published
2008
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28. Chromosome 9 and sporadic Frontotemporal Lobar Degeneration: KIF24, but not UBAP1, is a risk factor in Italian population

Author

Galimberti, Daniela, Venturelli, Eliana, Villa, Chiara, Fenoglio, Chiara, Clerici, Francesca, Marcone, Alessandra, Benussi, Luisa, Ghidoni, Roberta, Gallone, Salvatore, Scalabrini, Diego, Cortini, Francesca, Cappa, Stefano, Binetti, Giuliano, Franceschi, Massimo, Rainero, Innocenzo, Giordana, Maria Teresa, Mariani, Claudio, Bresolin, Nereo, and Scarpini, Elio

Published
2010
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29. CCL8/ MCP-2 association analysis in patients with Alzheimer’s disease and frontotemporal lobar degeneration.

Author

Villa, Chiara, Venturelli, Eliana, Fenoglio, Chiara, Clerici, Francesca, Marcone, Alessandra, Benussi, Luisa, Ghidoni, Roberta, Gallone, Salvatore, Cortini, Francesca, Scalabrini, Diego, Serpente, Maria, Binetti, Giuliano, Cappa, Stefano, Mariani, Claudio, Rainero, Innocenzo, Bresolin, Nereo, Scarpini, Elio, and Galimberti, Daniela

Subjects
CHEMOKINES, MONOCYTES, ALZHEIMER'S disease, GENETIC polymorphisms, INFLAMMATORY mediators, CAUCASIAN race
Abstract

CCL2/Monocyte Chemoattractant Protein (MCP)-1 and other chemokines sharing a similar sequence, including CCL8/MCP-2, are involved in neurodegeneration. A few Single Nucleotide Polymorphisms (SNPs) have been reported in CCL8/MCP-2, all of which are located in the same linkage block. One of them (rs1163763) leads to an aminoacidic substitution, implying a potential impact on the function of the protein. rs1133763 was tested for association in 219 patients with Alzheimer’s disease (AD) and 209 with Frontotemporal Lobar Degeneration (FTLD) as compared with 231 age-matched controls. The distribution of CCL8/MCP-2 rs1133763 was not significantly different among patients with AD or FTLD and controls, even stratifying according to gender. CCL8/MCP rs1133763 SNP, or other variants in linkage disequilibrium with this variant, likely do not influence the susceptibility to AD or FTLD in Caucasians. [ABSTRACT FROM AUTHOR]

Published
2009
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