19942019

Research output per year

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Research Output

2013

Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-Related factor (Nrf2) in cultured motor neurons

D'Oria, V., Petrini, S., Travaglini, L., Priori, C., Piermarini, E., Petrillo, S., Carletti, B., Bertini, E. & Piemonte, F., 2013, In : International Journal of Molecular Sciences. 14, 4, p. 7853-7865 13 p.

Research output: Contribution to journalArticle

MEDNIK syndrome: A novel defect of copper metabolism treatable by zinc acetate therapy

Martinelli, D., Travaglini, L., Drouin, C. A., Ceballos-Picot, I., Rizza, T., Bertini, E., Carrozzo, R., Petrini, S., De Lonlay, P., El Hachem, M., Hubert, L., Montpetit, A., Torre, G. & Dionisi-Vici, C., 2013, In : Brain. 136, 3, p. 872-881 10 p.

Research output: Contribution to journalArticle

Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts

Petrini, S., Minnone, G., Coccetti, M., Frank, C., Aiello, C., Cutarelli, A., Ambrosini, E., Lanciotti, A., Brignone, M. S., D'Oria, V., Strippoli, R., De Benedetti, F., Bertini, E. & Bracci-Laudiero, L., Sep 2013, In : Molecular and Cellular Neuroscience. 56, p. 307-321 15 p.

Research output: Contribution to journalArticle

Riboflavin transporter 3 involvement in infantile brown-vialetto-van laere disease: Two novel mutations

Ciccolella, M., Corti, S., Catteruccia, M., Petrini, S., Tozzi, G., Rizza, T., Carrozzo, R., Nizzardo, M., Bordoni, A., Ronchi, D., D'Amico, A., Rizzo, C., Comi, G. P. & Bertini, E., Feb 2013, In : Journal of Medical Genetics. 50, 2, p. 104-107 4 p.

Research output: Contribution to journalArticle

The immunosuppressive effect of mesenchymal stromal cells on B lymphocytes is mediated by membrane vesicles

Budoni, M., Fierabracci, A., Luciano, R., Petrini, S., Di Ciommo, V. & Muraca, M., 2013, In : Cell Transplantation. 22, 2, p. 369-379 11 p.

Research output: Contribution to journalArticle

Ultrastructural characterization of genetic diffuse lung diseases in infants and children: A cohort study and review

Citti, A., Peca, D., Petrini, S., Cutrera, R., Biban, P., Haass, C., Boldrini, R. & Danhaive, O., Oct 2013, In : Ultrastructural Pathology. 37, 5, p. 356-365 10 p.

Research output: Contribution to journalArticle

2012

Amplification of the response to toll-like receptor ligands by prolonged exposure to interleukin-6 in mice: Implication for the pathogenesis of macrophage activation syndrome

Strippoli, R., Carvello, F., Scianaro, R., De Pasquale, L., Vivarelli, M., Petrini, S., Bracci-Laudiero, L. & De Benedetti, F., May 2012, In : Arthritis and Rheumatism. 64, 5, p. 1680-1688 9 p.

Research output: Contribution to journalArticle

Distribution of cystinosin-LKG in human tissues

Taranta, A., Petrini, S., Citti, A., Boldrini, R., Corallini, S., Bellomo, F., Levtchenko, E. & Emma, F., Aug 2012, In : Histochemistry and Cell Biology. 138, 2, p. 351-363 13 p.

Research output: Contribution to journalArticle

Focal Adhesion Kinase (FAK) Mediates the Induction of Pro-Oncogenic and Fibrogenic Phenotypes in Hepatitis C Virus (HCV)-Infected Cells

Alisi, A., Arciello, M., Petrini, S., Conti, B., Missale, G. & Balsano, C., Aug 28 2012, In : PLoS One. 7, 8, e44147.

Research output: Contribution to journalArticle

Increased muscle expression of interleukin-17 in Duchenne muscular dystrophy

De Pasquale, L., D'Amico, A., Verardo, M., Petrini, S., Bertini, E. & De Benedetti, F., Apr 24 2012, In : Neurology. 78, 17, p. 1309-1314 6 p.

Research output: Contribution to journalArticle

Protein glutathionylation in cellular compartments: A constitutive redox signal

Petrini, S., Passarelli, C., Pastore, A., Tozzi, G., Coccetti, M., Colucci, M., Bianchi, M., Carrozzo, R., Bertini, E. & Piemonte, F., Mar 2012, In : Redox Report. 17, 2, p. 63-71 9 p.

Research output: Contribution to journalArticle

The empowerment of translational research: Lessons from laminopathies

Benedetti, S., Bernasconi, P., Bertini, E., Biagini, E., Boriani, G., Capanni, C., Carboni, N., Cenacchi, G., Columbaro, M., D'Adamo, M., Damico, A., Dapice, M. R., Fontana, M., Gambineri, A., Lattanzi, G., Liguori, R., Maraldi, N. M., Mazzanti, L., Mercuri, E., Mongini, T. & 21 others, Morandi, L. O., Neri, I., Nigro, G., Novelli, G., Ortolani, M., Pasquali, R., Pini, A., Petrini, S., Politano, L., Previtali, S., Pucci, L., Rapezzi, C., Ricci, G., Rodolico, C., Sbraccia, P., Scarano, E., Siciliano, G., Squarzoni, S., Toscano, A., Vercelli, L. & Ziacchi, M., 2012, In : Orphanet Journal of Rare Diseases. 7, 1, 37.

Research output: Contribution to journalArticle

2011

Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect

Peca, D., Petrini, S., Tzialla, C., Boldrini, R., Morini, F., Stronati, M., Carnielli, V. P., Cogo, P. E. & Danhaive, O., Aug 25 2011, In : Respiratory Research. 12, 115.

Research output: Contribution to journalArticle

Congenital Muscular Dystrophies: A Brief Review

Bertini, E., D'Amico, A., Gualandi, F. & Petrini, S., Dec 2011, In : Seminars in Pediatric Neurology. 18, 4, p. 277-288 12 p.

Research output: Contribution to journalArticle

Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies

Lo, H. P., Bertini, E., Mirabella, M., Domazetovska, A., Dale, R. C., Petrini, S., D'Amico, A., Valente, E. M., Barresi, R., Roberts, M., Tozzi, G., Tasca, G., Cooper, S. T., Straub, V. & North, K. N., Mar 2011, In : Neuromuscular Disorders. 21, 3, p. 194-203 10 p.

Research output: Contribution to journalArticle

Natural killer cells efficiently reject lymphoma silenced for the endoplasmic reticulum aminopeptidase associated with antigen processing

Cifaldi, L., Lo Monaco, E., Forloni, M., Giorda, E., Lorenzi, S., Petrini, S., Tremante, E., Pende, D., Locatelli, F., Giacomini, P. & Fruci, D., Mar 1 2011, In : Cancer Research. 71, 5, p. 1597-1606 10 p.

Research output: Contribution to journalArticle

The HIV-1 Nef protein has a dual role in T cell receptor signaling in infected CD4+ T lymphocytes

Neri, F., Giolo, G., Potestà, M., Petrini, S. & Doria, M., Feb 20 2011, In : Virology. 410, 2, p. 316-326 11 p.

Research output: Contribution to journalArticle

2010

Susceptibility of isolated myofibrils to in vitro glutathionylation: Potential relevance to muscle functions

Passarelli, C., Di Venere, A., Piroddi, N., Pastore, A., Scellini, B., Tesi, C., Petrini, S., Sale, P., Bertini, E., Poggesi, C. & Piemonte, F., 2010, In : Cytoskeleton. 67, 2, p. 81-89 9 p.

Research output: Contribution to journalArticle

2009

From the fetal liver to spleen and gut: The highway to natural antibody

Rosado, M. M., Aranburu, A., Capolunghi, F., Giorda, E., Cascioli, S., Cenci, F., Petrini, S., Miller, E., Leanderson, T., Bottazzo, G. F., Natali, P. G. & Carsetti, R., 2009, In : Mucosal Immunology. 2, 4, p. 351-361 11 p.

Research output: Contribution to journalArticle

2008

Identification and subcellular localization of a new cystinosin isoform

Taranta, A., Petrini, S., Palma, A., Mannucci, L., Wilmer, M. J., De Luca, V., Diomedi-Camassei, F., Corallini, S., Bellomo, F., Van Den Heuvel, L. P., Levtchenko, E. N. & Emma, F., May 2008, In : American Journal of Physiology - Renal Physiology. 294, 5

Research output: Contribution to journalArticle

Myosin as a potential redox-sensor: An in vitro study

Passarelli, C., Petrini, S., Pastore, A., Bonetto, V., Sale, P., Gaeta, L. M., Tozzi, G., Bertini, E., Canepari, M., Rossi, R. & Piemonte, F., May 2008, In : Journal of Muscle Research and Cell Motility. 29, 2-5, p. 119-126 8 p.

Research output: Contribution to journalArticle

2007

Fulminant hepatic failure following measles [5]

Nobili, V., Pietro, S. & Stefania, P., Aug 2007, In : Pediatric Infectious Disease Journal. 26, 8, p. 766-767 2 p.

Research output: Contribution to journalArticle

Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis

Petrini, S., D'Amico, A., Sale, P., Lucarini, L., Sabatelli, P., Tessa, A., Giusti, B., Verardo, M., Carrozzo, R., Mattioli, E., Scarpelli, M., Chu, M. L., Pepe, G., Russo, M. A. & Bertini, E., Aug 2007, In : Neuromuscular Disorders. 17, 8, p. 587-596 10 p.

Research output: Contribution to journalArticle

2006

Expanding the clinical spectrum of POMT1 phenotype

D'Amico, A., Tessa, A., Bruno, C., Petrini, S., Biancheri, R., Pane, M., Pedemonte, M., Ricci, E., Falace, A., Rossi, A., Mercuri, E., Santorelli, F. M. & Bertini, E., May 2006, In : Neurology. 66, 10, p. 1564-1567 4 p.

Research output: Contribution to journalArticle

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

D'Amico, A., Graziano, C., Pacileo, G., Petrini, S., Nowak, K. J., Boldrini, R., Jacques, A., Feng, J. J., Porfirio, B., Sewry, C. A., Santorelli, F. M., Limongelli, G., Bertini, E., Laing, N. & Marston, S. B., Oct 2006, In : Neuromuscular Disorders. 16, 9-10, p. 548-552 5 p.

Research output: Contribution to journalArticle

POMGnT1 mutations in congenital muscular dystrophy: Genotype-phenotype correlation and expanded clinical spectrum

Biancheri, R., Bertini, E., Falace, A., Pedemonte, M., Rossi, A., D'Amico, A., Scapolan, S., Bergamino, L., Petrini, S., Cassandrini, D., Broda, P., Manfredi, M., Zara, F., Santorelli, F. M., Minetti, C. & Bruno, C., 2006, In : Archives of Neurology. 63, 10, p. 1491-1495 5 p.

Research output: Contribution to journalArticle

2005

Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency

Petrini, S., Tessa, A., Stallcup, W. B., Sabatelli, P., Pescatori, M., Giusti, B., Carrozzo, R., Verardo, M., Bergamin, N., Columbaro, M., Bernardini, C., Merlini, L., Pepe, G., Bonaldo, P. & Bertini, E., Nov 2005, In : Molecular and Cellular Neuroscience. 30, 3, p. 408-417 10 p.

Research output: Contribution to journalArticle

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

Giusti, B., Lucarini, L., Pietroni, V., Lucioli, S., Bandinelli, B., Sabatelli, P., Squarzoni, S., Petrini, S., Gartioux, C., Talim, B., Roelens, F., Merlini, L., Topaloglu, H., Bertini, E., Guicheney, P. & Pepe, G., Sep 2005, In : Annals of Neurology. 58, 3, p. 400-410 11 p.

Research output: Contribution to journalArticle

Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene

D'Amico, A., Benedetti, S., Petrini, S., Sambuughin, N., Boldrini, R., Menditto, I., Ferrari, M., Verardo, M., Goldfarb, L. & Bertini, E., Dec 2005, In : Neuromuscular Disorders. 15, 12, p. 847-850 4 p.

Research output: Contribution to journalArticle

Phenotypic heterogeneity in two unrelated danon patients associated with the same LAMP-2 gene mutation

Bertini, E., Donati, M. A., Broda, P., Cassandrini, D., Petrini, S., Dionisi-Vici, C., Ballerini, L., Boldrini, R., D'Amico, A., Pasquini, E., Minetti, C., Santorelli, F. M. & Bruno, C., Oct 2005, In : Neuropediatrics. 36, 5, p. 309-313 5 p.

Research output: Contribution to journalArticle

2004

Revelation of a New Mitochondrial DNA Mutation (G12147A) in a MELAS/MERFF Phenotype

Melone, M. A. B., Tessa, A., Petrini, S., Lus, G., Sampaolo, S., Di Fede, G., Santorelli, F. M. & Cotrufo, R., Feb 2004, In : Archives of Neurology. 61, 2, p. 269-272 4 p.

Research output: Contribution to journalArticle

2003

Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene

Siciliano, G., Tessa, A., Petrini, S., Mancuso, M., Bruno, C., Grieco, G. S., Malandrini, A., DeFlorio, L., Martini, B., Federico, A., Nappi, G., Santorelli, F. M. & Murri, L., Feb 2003, In : Neuromuscular Disorders. 13, 2, p. 162-165 4 p.

Research output: Contribution to journalArticle

2001

Fine structure of undifferentiated gonads in Rana dalmatina tadpoles

Falconi, R., Petrini, S., Quaglia, A. & Zaccanti, F., 2001, In : Italian Journal of Zoology. 68, 1, p. 15-21 7 p.

Research output: Contribution to journalArticle

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

Vanegas, O. C., Bertini, E., Zhang, R. Z., Petrini, S., Minosse, C., Sabatelli, P., Giusti, B., Chu, M. L. & Pepe, G., Jun 19 2001, In : Proceedings of the National Academy of Sciences of the United States of America. 98, 13, p. 7516-7521 6 p.

Research output: Contribution to journalArticle

2000

Emerin presence in platelets

Squarzoni, S., Sabatelli, P., Capanni, C., Petrini, S., Ognibene, A., Toniolo, D., Cobianchi, F., Zauli, G., Bassini, A., Baracca, A., Guarnieri, C., Merlini, L. & Maraldi, N. M., Sep 2000, In : Acta Neuropathologica. 100, 3, p. 291-298 8 p.

Research output: Contribution to journalArticle

1999

Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy

Ognibene, A., Sabatelli, P., Petrini, S., Squarzoni, S., Riccio, M., Santi, S., Villanova, M., Palmeri, S., Merlini, L. & Maraldi, N. M., 1999, In : Muscle and Nerve. 22, 7, p. 864-869 6 p.

Research output: Contribution to journalArticle

1998

Immunocytochemical detection of emerin within the nuclear matrix

Squarzoni, S., Sabatelli, P., Ognibene, A., Toniolo, D., Cartegni, L., Cobianchi, F., Petrini, S., Merlini, L. & Maraldi, N. M., Jun 1998, In : Neuromuscular Disorders. 8, 5, p. 338-344 7 p.

Research output: Contribution to journalArticle

Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome

Villanova, M., Sabatelli, P., He, Y., Malandrini, A., Petrini, S., Maraldi, N. M. & Merlini, L., Dec 1998, In : Acta Neuropathologica. 96, 6, p. 651-654 4 p.

Research output: Contribution to journalArticle

Increase of neuronal nitric oxide synthase in rat skeletal muscle during ageing

Capanni, C., Squarzoni, S., Petrini, S., Villanova, M., Muscari, C., Maraldi, N. M., Guarnieri, C. & Caldarera, C. M., Apr 7 1998, In : Biochemical and Biophysical Research Communications. 245, 1, p. 216-219 4 p.

Research output: Contribution to journalArticle

Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers

Sabatelli, P., Squarzoni, S., Petrini, S., Capanni, C., Ognibene, A., Cartegni, L., Cobianchi, F., Merlini, L., Toniolo, D. & Maraldi, N. M., Apr 1998, In : Neuromuscular Disorders. 8, 2, p. 67-71 5 p.

Research output: Contribution to journalArticle

1994

Accelerated female differentiation of the gonad by inhibition of steroidogenesis in amphibia

Zaccanti, F., Petrini, S., Rubatta, M. L., Stagni, A. M. & Giorgi, P. P., Jan 1994, In : Comparative Biochemistry and Physiology - A Molecular and Integrative Physiology. 107, 1, p. 171-179 9 p.

Research output: Contribution to journalArticle