Molecular characterization and transcriptome-wide expression profiling of two patients with spondyloepimetaphyseal dysplasia with joint laxity type 1
2015-01-01 Ritelli, M; Chiarelli, N; Zoppi, N; Dordoni, C; Quinzani, S; Traversa, M; Venturini, M; Calzavara-Pinton, P; Colombi, M.
Characterization of two families with Arterial Tortuosity Syndrome with homozygosity for a novel and a recurrent missense mutations in SLC2A10 gene.
2013-01-01 Dordoni, C; Ritelli, M; Chiarelli, N; Quinzani, S; Pezzani, L; Venturini, M; Calzavara-Pinton, P; Reffo, E; Milanesi, O; Colombi, M.
Cloning and expression of the facilitative glucose transporter GLUT10 in arterial tortuosity syndrome skin fibroblast rescue a control-like phenotype.
2011-01-01 Zoppi, N; Ritelli, M; Chiarelli, N; Colombi, M; Barlati, S.
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz.
2012-01-01 Morlino, S; Castori, M; Ritelli, M; Radio, Fc; Valiante, M; Chiarelli, N; Colombi, M; Morrone, A; Grammatico, P.
La messa in scena del potere in Antonio e Cleopatra di William Shakespeare
2011-01-01 DOERR ROXANNE, B.
Le sindromi di Ehlers-Danlos
2013-01-01 Colombi, M; Venturini, M; Ritelli, M; Dordoni, C; Chiarelli, N; Quinzani, S; Pezzani, L; Vascellaro, A; Zoppi, N; Calzavara-Pinton, P.
Enter Peter Ackroyd’s Nicholas Dyer, Architect, Devil Worshipper and Murderer
2011-01-01 Doerr, ROXANNE BARBARA
Characterization of a 24-year-old woman with osteogenesis imperfecta/Ehlers-Danlos syndrome overlapping phenotype due to the novel c.3469_3470del mutation in the COL1A1 gene.
2013-01-01 Ritelli, M; Castori, M; Chiarelli, N; Grammatico, P; Colombi, M.
Blood will have blood: Vengeance and Injustice in Salman Rushdie’s Shalimar the Clown
2012-01-01 Doerr, ; Roxanne, Barbara
Identification and characterization of hly and iap genes in Listeria monocytogenes serotypes and comparison with Listeria spp
2005-01-01 Losso, Ma; Caracciolo, S; Chiarelli, N; Lepore, Sm; Vuono, R.
Sindrome di Ehlers-Danlos ipermobile/sindrome da ipermobilità articolare: clinica, assistenza e ricerca in Italia
2013-01-01 Castori, M; Ritelli, M; Morlino, S; Celletti, C; Chiarelli, N; Dordoni, C; Bruschini, M; Blundo, C; Camerota, F; Colombi, M; Grammatico, P.
Ptosi viscerale generalizzata recidivante in una paziente con segni di connettivopatia ereditaria.
2011-01-01 Dordoni, C; Ritelli, M; Venturini, M; Chiarelli, N; Vascellaro, A; Coniglio, A; Tiberio, Gam; Giulini, Sm; Calzavara-Pinton, P; Colombi, M.
In vitro evaluation of macroalgae (Ascophyllum nodosum and Lithothamnium calcareum) and microalgae (Schizochytrium spp.) for animal nutrition
2019-01-01 Dell’Anno, Matteo; Sotira, Stefania; Hejna, Monika; Caprarulo, Valentina; Reggi, Serena; Rossi, Luciana
Caratterizzazione di slc2a10, l’ortologo del gene umano responsabile della Sindrome delle Arterie Tortuose, in Danio rerio
2008-01-01 Ritelli, M; Chiarelli, N; Zoppi, N; Benini, A Borsani G; Barlati, S; Colombi, M.
Clinical and molecular characterization of a family with LDS type IV: identification of the first TGFB2 splice mutation.
2013-01-01 Dordoni, C; Ritelli, M; Quinzani, S; Chiarelli, N; Pezzani, L; Venturini, M; Calzavara-Pinton, P; Colombi, M.
Exome sequencing allows for the rapid identification of two novel ATP6V0A2 mutations in an infant with cutis laxa.
2013-01-01 Ritelli, M; Dordoni, C; Quinzani, S; Venturini, M; Chiarelli, N; Pezzani, L; Calzavara-Pinton, P; Colombi, M.
Sindrome di LEOPARD: caratterizzazione di due famiglie italiane con mutazioni ricorrenti p.T468M/P nel gene PTPN11.
2012-01-01 Pezzani, L; Ritelli, M; Chiarelli, N; Dordoni, C; Venturini, M; Brezzi, A; Calzavara-Pinton, P; Tadini, G; Colombi, M.
. Alpha-synuclein is a crucial mediator of mitochondrial fusion and functions
2019-01-01 Faustini, G; Bono, F; Longhena, F; Pizzi, M; Ziviani, E; Valerio, A; Bellucci, A
Alpha-synuclein absence affected mitochondrial fusion and functions
2018-01-01 Faustini, G; Bono, F; Longhena, F; Pizzi, M; Ziviani, E; Valerio, A; Bellucci, A.
Validation of synapsin III as a therapeutic target for Parkinson’s disease in the AAV-mediated alpha-synuclein mouse model
2018-01-01 Faustini, G; Longhena, F; Pizzi, M; Benfenati, F; Björklund, A; Spano, Pf; Bellucci, A.
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