1992 …2019

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

Filter
Article
2019

In vitro treatment of congenital disorder of glycosylation type Ia using PLGA nanoparticles loaded with GDP‑Man

Bortot, B., De Martino, E., Tesser, A., Ura, B., Ruozi, B., Aloisio, M., Biffi, S., Addobbati, R., Tosi, G., Dolcetta, D. & Severini, G. M., Jul 2019, In : International Journal of Molecular Medicine. 44, 1, p. 262-272 11 p.

Research output: Contribution to journalArticle

2018

Detection of four regulated grapevine viruses in a qualitative, single tube real-time PCR with melting curve analysis

Aloisio, M., Morelli, M., Elicio, V., Saldarelli, P., Ura, B., Bortot, B., Severini, G. M. & Minafra, A., Jul 1 2018, In : Journal of Virological Methods. 257, p. 42-47 6 p.

Research output: Contribution to journalArticle

2017

A semi-nested real-time PCR method to detect low chimerism percentage in small quantity of hematopoietic stem cell transplant DNA samples

Aloisio, M., Bortot, B., Gandin, I., Severini, G. M., Athanasakis, E. & Xu, Z. S., 2017, In : Genome. 60, 2, p. 183-192 10 p.

Research output: Contribution to journalArticle

Synthesis of Lipophilic Core-Shell Fe3O4@SiO2@Au Nanoparticles and Polymeric Entrapment into Nanomicelles: A Novel Nanosystem for in Vivo Active Targeting and Magnetic Resonance-Photoacoustic Dual Imaging

Monaco, I., Arena, F., Biffi, S., Locatelli, E., Bortot, B., La Cava, F., Marini, G. M., Severini, G. M., Terreno, E. & Comes Franchini, M., May 17 2017, In : Bioconjugate Chemistry. 28, 5, p. 1382-1390 9 p.

Research output: Contribution to journalArticle

2016

A technical application of quantitative next generation sequencing for chimerism evaluation

Aloisio, M., Licastro, D., Caenazzo, L., Torboli, V., D'Eustacchio, A., Severini, G. M. & Athanasakis, E., Oct 1 2016, In : Molecular Medicine Reports. 14, 4, p. 2967-2974 8 p.

Research output: Contribution to journalArticle

Clinical Spectrum of PRKAG2 Syndrome

Porto, A. G., Brun, F., Severini, G. M., Losurdo, P., Fabris, E., Taylor, M. R. G., Mestroni, L. & Sinagra, G., Jan 1 2016, In : Circulation: Arrhythmia and Electrophysiology. 9, 1, e003121.

Research output: Contribution to journalArticle

2015

Genetic profiling of autoinflammatory disorders in patients with periodic fever: A prospective study

De Pieri, C., Vuch, J., De Martino, E., Bianco, A. M., Ronfani, L., Athanasakis, E., Bortot, B., Crovella, S., Taddio, A., Severini, G. M. & Tommasini, A., Apr 10 2015, In : Pediatric Rheumatology. 13, 1, 11.

Research output: Contribution to journalArticle

Use of polylactide-co-glycolide-nanoparticles for lysosomal delivery of a therapeutic enzyme in glycogenosis type II fibroblasts

Tancini, B., Tosi, G., Bortot, B., Dolcetta, D., Magini, A., De Martino, E., Urbanelli, L., Ruozi, B., Forni, F., Emiliani, C., Vandelli, M. A. & Severini, G. M., Apr 1 2015, In : Journal of Nanoscience and Nanotechnology. 15, 4, p. 2657-2666 10 p.

Research output: Contribution to journalArticle

2014

Detection of PLGA-based nanoparticles at a single-cell level by synchrotron radiation FTIR spectromicroscopy and correlation with X-ray fluorescence microscopy

Pascolo, L., Bortot, B., Benseny-Cases, N., Gianoncelli, A., Tosi, G., Ruozi, B., Rizzardi, C., De Martino, E., Vandelli, M. A. & Severini, G. M., Jun 7 2014, In : International Journal of Nanomedicine. 9, 1, p. 2791-2801 11 p.

Research output: Contribution to journalArticle

F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls

De Pieri, C., Vuch, J., Athanasakis, E., Severini, G. M., Crovella, S., Bianco, A. M. & Tommasini, A., 2014, In : Clinical and Experimental Rheumatology. 32, 6, p. 993-994 2 p.

Research output: Contribution to journalArticle

2013

Cardiac hypertrophy, accessory pathway, and conduction system disease in an adolescent: The PRKAG2 cardiac syndrome

Fabris, E., Brun, F., Porto, A. G., Losurdo, P., Vitali Serdoz, L., Zecchin, M., Severini, G. M., Mestroni, L., Di Chiara, A. & Sinagra, G., Aug 27 2013, In : Journal of the American College of Cardiology. 62, 9

Research output: Contribution to journalArticle

Clinical genetic testing of periodic fever syndromes

Marcuzzi, A., Piscianz, E., Kleiner, G., Tommasini, A., Severini, G. M., Monasta, L. & Crovella, S., 2013, In : BioMed Research International. 2013, 501305.

Research output: Contribution to journalArticle

PMM2-CDG: Phenotype and genotype in four affected family members

Bortot, B., Cosentini, D., Faletra, F., Biffi, S., De Martino, E., Carrozzi, M. & Severini, G. M., Dec 1 2013, In : Gene. 531, 2, p. 506-509 4 p.

Research output: Contribution to journalArticle

Potential use of polymeric nanoparticles for drug delivery across the blood-brain barrier

Tosi, G., Bortot, B., Ruozi, B., Dolcetta, D., Vandelli, M. A., Forni, F. & Severini, G. M., Jun 2013, In : Current Medicinal Chemistry. 20, 17, p. 2212-2225 14 p.

Research output: Contribution to journalArticle

2012

Cell-based therapies for diabetic complications

Secchiero, P., Bernardi, S., Severini, G. M. & Zauli, G., 2012, In : Experimental Diabetes Research. 2012, 872504.

Research output: Contribution to journalArticle

β-Hexosaminidase over-expression affects lysosomal glycohydrolases expression and glycosphingolipid metabolism in mammalian cells

Tancini, B., Magini, A., Bortot, B., Polchi, A., Urbanelli, L., Sonnino, S., Severini, G. M. & Emiliani, C., Apr 2012, In : Molecular and Cellular Biochemistry. 363, 1-2, p. 109-118 10 p.

Research output: Contribution to journalArticle

2011

High-throughput genotyping robot-assisted method for mutation detection in patients with hypertrophic cardiomyopathy

Bortot, B., Athanasakis, E., Brun, F., Rizzotti, D., Mestroni, L., Sinagra, G. & Severini, G. M., Sep 2011, In : Diagnostic Molecular Pathology. 20, 3, p. 175-179 5 p.

Research output: Contribution to journalArticle

NIR-labeled nanoparticles engineered for brain targeting: In vivo optical imaging application and fluorescent microscopy evidences

Tosi, G., Bondioli, L., Ruozi, B., Badiali, L., Severini, G. M., Biffi, S., De Vita, A., Bortot, B., Dolcetta, D., Forni, F. & Vandelli, M. A., Jan 2011, In : Journal of Neural Transmission. 118, 1, p. 145-153 9 p.

Research output: Contribution to journalArticle

2009

Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction

Bortot, B., Barbi, E., Biffi, S., Lunazzi, G., Bussani, R., Burlina, A., Norbedo, S., Ventura, A., Carrozzi, M. & Severini, G. M., Jul 2009, In : Digestive and Liver Disease. 41, 7, p. 494-499 6 p.

Research output: Contribution to journalArticle

2007

Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs)

Biffi, S., Tamaro, G., Bortot, B., Zamberlan, S., Severini, G. M. & Carrozzi, M., Dec 2007, In : Clinical Biochemistry. 40, 18, p. 1431-1434 4 p.

Research output: Contribution to journalArticle

Metabolic correction in oligodendrocytes derived from metachromatic leukodystrophy mouse model by using encapsulated recombinant myoblasts

Consiglio, A., Martino, S., Dolcetta, D., Cusella, G., Conese, M., Marchesini, S., Benaglia, G., Wrabetz, L., Orlacchio, A., Déglon, N., Aebischer, P., Severini, G. M. & Bordignon, C., Apr 15 2007, In : Journal of the Neurological Sciences. 255, 1-2, p. 7-16 10 p.

Research output: Contribution to journalArticle

2005

Expression and purification of a human, soluble Arylsulfatase a for Metachromatic Leukodystrophy enzyme replacement therapy

Martino, S., Consiglio, A., Cavalieri, C., Tiribuzi, R., Costanzi, E., Severini, G. M., Emiliani, C., Bordignon, C. & Orlacchio, A., May 25 2005, In : Journal of Biotechnology. 117, 3, p. 243-251 9 p.

Research output: Contribution to journalArticle

2002

Absence of metabolic cross-correction in Tay-Sachs cells: Implications for gene therapy

Martino, S., Emiliani, C., Tancini, B., Severini, G. M., Chigorno, V., Bordignon, C., Sonnino, S. & Orlacchio, A., Jun 7 2002, In : Journal of Biological Chemistry. 277, 23, p. 20177-20184 8 p.

Research output: Contribution to journalArticle

Restoration of the GM2 ganglioside metabolism in bone marrow-derived stromal cells from Tay-Sachs disease animal model

Martino, S., Cavalieri, C., Emiliani, C., Dolcetta, D., De Cusella Angelis, M. G., Chigorno, V., Severini, G. M., Sandhoff, K., Bordignon, C., Sonnino, S. & Orlacchio, A., Aug 2002, In : Neurochemical Research. 27, 7-8, p. 793-800 8 p.

Research output: Contribution to journalArticle

2001

Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2

Martini, C., Ciana, G., Benettoni, A., Katouzian, F., Severini, G. M., Bussani, R. & Bembi, B., Sep 11 2001, In : Neurology. 57, 5, p. 906-908 3 p.

Research output: Contribution to journalArticle

Progressi e delusioni in malattie rare

Translated title of the contribution: Progress and disappointments in rare diseasesBembi, B., Ciana, G., Martini, C. & Severini, G. M., Mar 31 2001, In : Medico e Bambino. 20, 3 SUPPL., p. 45-50 6 p.

Research output: Contribution to journalArticle

Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro

Toietta, G., Severini, G. M., Traversari, C., Tomatsu, S., Sukegawa, K., Fukuda, S., Kondo, N., Tortora, P. & Bordignon, C., 2001, In : Human Gene Therapy. 12, 16, p. 2007-2016 10 p.

Research output: Contribution to journalArticle

1999

Reversal of diabetes in mice by implantation of human fibroblasts genetically engineered to release mature human insulin

Falqui, L., Martinenghi, S., Severini, G. M., Corbella, P., Taglietti, M. V., Arcelloni, C., Sarugeri, E., Monti, L. D., Paroni, R., Dozio, N., Pozza, G. & Bordignon, C., Jul 20 1999, In : Human Gene Therapy. 10, 11, p. 1753-1762 10 p.

Research output: Contribution to journalArticle

1998

Glucose-induced activity of liver-type pyruvate kinase promoter in primary rat hepatocytes

Rudoni, S., Martinenghi, S., Severini, G. M., Monti, L. D., Pozza, G., Bordignon, C. & Falqui, L., 1998, In : Transplantation Proceedings. 30, 2, p. 584-585 2 p.

Research output: Contribution to journalArticle

Transduced fibroblasts and metachromatic leukodystrophy lymphocytes transfer arylsulfatase A to myelinating glia and deficient cells in vitro

Sangalli, A., Taveggia, C., Salviati, A., Wrabetz, L., Bordignon, C. & Severini, G. M., Sep 20 1998, In : Human Gene Therapy. 9, 14, p. 2111-2119 9 p.

Research output: Contribution to journalArticle

1997

Erratum: HLA-A*02 subtype distribution in Caucasians from northern Italy: Identification of A*0220 (Journal of Tissue Antigens(1996)48(673-679)

Fleischhauer, K., Zino, E., Mazzi, B., Severini, G. M., Benazzi, E. & Bordignon, C., 1997, In : Tissue Antigens. 50, 2, p. 208 1 p.

Research output: Contribution to journalArticle

Gene therapy for metachromatic leukodystrophy and Gaucher disease

Severini, G. M., Dec 1997, In : Minerva Biotecnologica. 9, 4, p. 236-241 6 p.

Research output: Contribution to journalArticle

1996

A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14

Severini, G. M., Krajinovic, M., Pinamonti, B., Sinagra, G., Fioretti, P., Brunazzi, M. C., Falaschi, A., Camerini, F., Giacca, M., Mestroni, L., Di Lenarda, A., Lardieri, G., Morgera, T., Silvestri, F., Bussani, R., Davanzo, M., Vatta, M. & Milasin, J., Jan 15 1996, In : Genomics. 31, 2, p. 193-200 8 p.

Research output: Contribution to journalArticle

A point mutation in the 5′ splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy

Milasin, J., Muntoni, F., Severini, G. M., Bartoloni, L., Vatta, M., Krajinovic, M., Mateddu, A., Angelini, C., Camerini, F., Falaschi, A., Mestroni, L., Giacca, M., Pinamonti, B., Sinagra, G., Di Lenarda, A., Silvestri, F., Bussani, R. & Davanzo, M., Jan 1996, In : Human Molecular Genetics. 5, 1, p. 73-79 7 p.

Research output: Contribution to journalArticle

HLA-A*02 subtype distribution in Caucasians from northern Italy: Identification of A*0220

Fleischhauer, K., Zino, E., Mazzi, B., Severini, G. M., Benazzi, E. & Bordignon, C., 1996, In : Tissue Antigens. 48, 6, p. 673-679 7 p.

Research output: Contribution to journalArticle

Sequencing of a new HLA-A*32 subtype (A*3202)

Zino, E., Severini, G. M., Mazzi, B., Bordignon, C., Benazzi, E. & Fleischhauer, K., 1996, In : Immunogenetics. 45, 1, p. 76-77 2 p.

Research output: Contribution to journalArticle

1995

Linkage of familial dilated cardiomyopathy to chromosome 9

Krajinovic, M., Pinamonti, B., Sinagra, G., Vatta, M., Severini, G. M., Milasin, J., Falaschi, A., Camerini, F., Giacca, M., Mestroni, L., Di Lenarda, A., Lardieri, G., Morgera, T., Silvestri, F., Bussani, R., Davanzo, M. & Meringolo, G., 1995, In : American Journal of Human Genetics. 57, 4, p. 846-852 7 p.

Research output: Contribution to journalArticle

Molecular genetics of dilated cardiomyopathies

Mestroni, L., Krajinovic, M., Severini, G. M., Milasin, J., Pinamonti, B., Rocco, C., Vatta, M., Falaschi, A., Giacca, M. & Camerini, F., 1995, In : European Heart Journal. 16, SUPPL. O, p. 5-9 5 p.

Research output: Contribution to journalArticle

1994

Absence of linkage between idiopathic dilated cardiomyopathy and candidate genes involved in the immune function in a large Italian pedigree

Krajinovic, M., Mestroni, L., Severini, G. M., Pinamonti, B., Camerini, F., Falaschi, A. & Giacca, M., Oct 1994, In : Journal of Medical Genetics. 31, 10, p. 766-771 6 p.

Research output: Contribution to journalArticle

Familial dilated cardiomyopathy

Mestroni, L., Krajinovic, M., Severini, G. M., Pinamonti, B., Di Lenarda, A., Giacca, M., Falaschi, A. & Camerini, F., 1994, In : Heart. 72, 6 SUPPL.

Research output: Contribution to journalArticle

Low frequency of detection by nested polymerase chain reaction of enterovirus ribonucleic acid in endomyocardial tissue of patients with idiopathic dilated cardiomyopathy

Giacca, M., Severini, G. M., Mestroni, L., Salvi, A., Lardieri, G., Falaschi, A. & Camerini, F., 1994, In : Journal of the American College of Cardiology. 24, 4, p. 1033-1040 8 p.

Research output: Contribution to journalArticle

Molecular genetics of dilated cardiomyopathy

Mestroni, L., Krajinovic, M., Severini, G. M., Falaschi, A., Giacca, M. & Camerini, F., 1994, In : Herz. 19, 2, p. 97-104 8 p.

Research output: Contribution to journalArticle

1993

Nested polymerase chain reaction for high-sensitivity detection of enteroviral RNA in biological samples

Severini, G. M., Mestroni, L., Falaschi, A., Camerini, F. & Giacca, M., 1993, In : Journal of Clinical Microbiology. 31, 5, p. 1345-1349 5 p.

Research output: Contribution to journalArticle

1992

Patogenesi della cardiomiopatia dilatativa: recenti progressi.

Translated title of the contribution: The pathogenesis of dilated cardiomyopathy: current progressMestroni, L., Giacca, M., Severini, G. M. & Camerini, F., Jan 1992, In : Giornale Italiano di Cardiologia. 22, 1, p. 53-62 10 p.

Research output: Contribution to journalArticle