19942019

Research output per year

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

Research Output

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

Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging

Petrini, S., Borghi, R., D'Oria, V., Restaldi, F., Moreno, S., Novelli, A., Bertini, E. & Compagnucci, C., May 1 2017, In : Aging. 9, 5, p. 1453-1469 17 p.

Research output: Contribution to journalArticle

Aged iPSCs display an uncommon mitochondrial appearance and fail to undergo in vitro neurogenesis

Masotti, A., Celluzzi, A., Petrini, S., Bertini, E., Zanni, G. & Compagnucci, C., 2014, In : Aging. 6, 12, p. 1094-1108 15 p.

Research output: Contribution to journalArticle

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

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

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

A possible role of transglutaminase 2 in the nucleus of INS-1E and of cells of human pancreatic islets

Sileno, S., D'Oria, V., Stucchi, R., Massimo, A., Petrini, S., Bonetto, V., Maechler, P., Bertuzzi, F., Grasso, V., Paolella, K., Barbetti, F. & Massa, O., Jan 16 2014, In : Journal of Proteomics. 96, p. 314-327 14 p.

Research output: Contribution to journalArticle

Assessing drug effect from distributional data: A population approach with application to Duchenne Muscular Dystrophy treatment

Lavezzi, S. M., Rocchetti, M., Bettica, P., Petrini, S. & De Nicolao, G., Sep 2019, In : Computer Methods and Programs in Biomedicine. 178, p. 329-342 14 p.

Research output: Contribution to journalArticle

Association between Serum Atypical Fibroblast Growth Factors 21 and 19 and Pediatric Nonalcoholic Fatty Liver Disease

Alisi, A., Ceccarelli, S., Panera, N., Prono, F., Petrini, S., De Stefanis, C., Pezzullo, M., Tozzi, A., Villani, A., Bedogni, G. & Nobili, V., Jun 26 2013, In : PLoS One. 8, 6, e67160.

Research output: Contribution to journalArticle

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

Carboxyl-Terminal SSLKG Motif of the Human Cystinosin-LKG Plays an Important Role in Plasma Membrane Sorting

Bellomo, F., Taranta, A., Petrini, S., Venditti, R., Rocchetti, M. T., Rega, L. R., Corallini, S., Gesualdo, L., De Matteis, M. A. & Emma, F., 2016, In : PLoS One. 11, 5, p. e0154805

Research output: Contribution to journalArticle

Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: A case report

Martoni, E., Petrini, S., Trabanelli, C., Sabatelli, P., Urciuolo, A., Selvatici, R., D'Amico, A., Falzarano, S., Bertini, E., Bonaldo, P., Ferlini, A. & Gualandi, F., Jun 5 2013, In : BMC Medical Genetics. 14, 1, 59.

Research output: Contribution to journalArticle

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

Hedberg, C., Niceta, M., Fattori, F., Lindvall, B., Ciolfi, A., D'Amico, A., Tasca, G., Petrini, S., Tulinius, M., Tartaglia, M., Oldfors, A. & Bertini, E., 2014, In : Journal of Neurology. 261, 5, p. 870-876 7 p.

Research output: Contribution to journalArticle

Choice of costimulatory domains and of cytokines determines CAR T-cell activity in neuroblastoma

Quintarelli, C., Orlando, D., Boffa, I., Guercio, M., Polito, V. A., Petretto, A., Lavarello, C., Sinibaldi, M., Weber, G., Del Bufalo, F., Giorda, E., Scarsella, M., Petrini, S., Pagliara, D., Locatelli, F., De Angelis, B. & Caruana, I., Jun 3 2018, In : OncoImmunology. 7, 6, e1433518.

Research output: Contribution to journalArticle

Choice of costimulatory domains and of cytokines determines CAR T-cell activity in neuroblastoma

Quintarelli, C., Orlando, D., Boffa, I., Guercio, M., Polito, V. A., Petretto, A., Lavarello, C., Sinibaldi, M., Weber, G., Del Bufalo, F., Giorda, E., Scarsella, M., Petrini, S., Pagliara, D., Locatelli, F., De Angelis, B. & Caruana, I., 2018, In : OncoImmunology. 7, 6, p. e1433518

Research output: Contribution to journalArticle

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D'Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M. & De Luca, A., May 6 2019, In : Human Mutation.

Research output: Contribution to journalArticle

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D’Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M. & De Luca, A., 2019, In : Human Mutation. 40, 8, p. 1046-1056 11 p.

Research output: Contribution to journalArticle

Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations

Peca, D., Boldrini, R., Johannson, J., Shieh, J. T., Citti, A., Petrini, S., Salerno, T., Cazzato, S., Testa, R., Messina, F., Onofri, A., Cenacchi, G., Westermark, P., Ullman, N., Cogo, P., Cutrera, R. & Danhaive, O., Aug 21 2015, In : European Journal of Human Genetics. 23, 8, p. 1033-1041 9 p.

Research output: Contribution to journalArticle

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 1 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

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

Cystinosin-LKG rescues cystine accumulation and decreases apoptosis rate in cystinotic proximal tubular epithelial cells

Taranta, A., Bellomo, F., Petrini, S., Polishchuk, E. V., De Leo, E., Rega, L. R., Pastore, A., Polishchuk, R. S., De Matteis, M. A. & Emma, F., Sep 22 2016, In : Pediatric Research. 81, 1-1, p. 113-119 7 p.

Research output: Contribution to journalArticle

Cytoskeletal dynamics during in vitro neurogenesis of induced pluripotent stem cells (iPSCs)

Compagnucci, C., Piermarini, E., Sferra, A., Borghi, R., Niceforo, A., Petrini, S., Piemonte, F. & Bertini, E., Dec 1 2016, In : Molecular and Cellular Neuroscience. 77, p. 113-124 12 p.

Research output: Contribution to journalArticle

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy

Sferra, A., Fattori, F., Rizza, T., Flex, E., Bellacchio, E., Bruselles, A., Petrini, S., Cecchetti, S., Teson, M., Restaldi, F., Ciolfi, A., Santorelli, F. M., Zanni, G., Barresi, S., Castiglioni, C., Tartaglia, M. & Bertini, E., Jun 1 2018, In : Human Molecular Genetics. 27, 11, p. 1892-1904 13 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

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

Dysregulated miR-155 and miR-125b Are Related to Impaired B-cell Responses in Down Syndrome

Farroni, C., Marasco, E., Marcellini, V., Giorda, E., Valentini, D., Petrini, S., D'Oria, V., Pezzullo, M., Cascioli, S., Scarsella, M., Ugazio, A. G., De Vincentiis, G. C., Grimsholm, O. & Carsetti, R., Nov 20 2018, In : Frontiers in Immunology. 9, p. 2683 12 p.

Research output: Contribution to journalArticle

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

ERAP1 regulates natural killer cell function by controlling the engagement of inhibitory receptors

Cifaldi, L., Romania, P., Falco, M., Lorenzi, S., Meazza, R., Petrini, S., Andreani, M., Pende, D., Locatelli, F. & Fruci, D., Mar 1 2015, In : Cancer Research. 75, 5, p. 824-834 11 p.

Research output: Contribution to journalArticle

Erratum: Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations (European Journal of Human Genetics (2015) 23 (10331041)) DOI:10.1038/ejhg.2015.45

Peca, D., Boldrini, R., Johannson, J., Shieh, J. T., Citti, A., Petrini, S., Salerno, T., Cazzato, S., Testa, R., Messina, F., Onofri, A., Cenacchi, G., Westermark, P., Ullmann, N., Cogo, P., Cutrera, R. & Danhaive, O., May 1 2016, In : European Journal of Human Genetics. 24, 5, p. 780 1 p.

Research output: Contribution to journalArticle

Erratum: MEDNIK syndrome: A novel defect of copper metabolism treatable by zinc acetate therapy (Brain (2013) 136 (872-881))

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., 2013, In : Brain. 136, 10

Research output: Contribution to journalArticle

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

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

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

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

Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich's ataxia

Piermarini, E., Cartelli, D., Pastore, A., Tozzi, G., Compagnucci, C., Giorda, E., D'Amico, J., Petrini, S., Bertini, E., Cappelletti, G. & Piemonte, F., Oct 1 2016, In : Human Molecular Genetics. 25, 19, p. 4288-4301 14 p.

Research output: Contribution to journalArticle

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

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

Histological effects of givinostat in boys with Duchenne muscular dystrophy

Bettica, P., Petrini, S., D'Oria, V., D'Amico, A., Catteruccia, M., Pane, M., Sivo, S., Magri, F., Brajkovic, S., Messina, S., Vita, G. L., Gatti, B., Moggio, M., Puri, P. L., Rocchetti, M., De Nicolao, G., Vita, G., Comi, G. P., Bertini, E. S. & Mercuri, E., Oct 1 2016, In : Neuromuscular Disorders. 26, 10, p. 643-649 7 p.

Research output: Contribution to journalArticle

Histological effects of givinostat in boys with Duchenne muscular dystrophy

Bettica, P., Petrini, S., D'Oria, V., D'Amico, A., Catteruccia, M., Pane, M., Sivo, S., Magri, F., Brajkovic, S., Messina, S., Vita, G. L., Gatti, B., Moggio, M., Puri, P. L., Rocchetti, M., De Nicolao, G., Vita, G., Comi, G. P., Bertini, E. & Mercuri, E., Oct 1 2016, In : Neuromuscular Disorders. 26, 10, p. 643-649 7 p.

Research output: Contribution to journalArticle

Histological effects of givinostat in boys with Duchenne muscular dystrophy

Bettica, P., Petrini, S., D'Oria, V., D'Amico, A., Catteruccia, M., Pane, M., Sivo, S., Magri, F., Brajkovic, S., Messina, S., Vita, G. L., Gatti, B., Moggio, M. G., Puri, P. L., Rocchetti, M., De Nicolao, G., Vita, G., Comi, G. P., Bertini, E. S. & Mercuri, E., Oct 1 2016, In : Neuromuscular Disorders. 26, 10, p. 643-649 7 p.

Research output: Contribution to journalArticle

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy

Peverelli, L., Testolin, S., Villa, L., D'Amico, A., Petrini, S., Favero, C., Magri, F., Morandi, L., Mora, M., Mongini, T., Bertini, E., Sciacco, M., Comi, G. P. & Moggio, M., Nov 24 2015, In : Neurology. 85, 21, p. 1886-1893 8 p.

Research output: Contribution to journalArticle