20082019

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2019

Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome

Volpi, S., Insalaco, A., Caorsi, R., Santori, E., Messia, V., Sacco, O., Terheggen-Lagro, S., Cardinale, F., Scarselli, A., Pastorino, C., Moneta, G., Cangemi, G., Passarelli, C., Ricci, M., Girosi, D., Derchi, M., Bocca, P., Diociaiuti, A., El Hachem, M., Cancrini, C. & 7 others, Tomà, P., Granata, C., Ravelli, A., Candotti, F., Picco, P., DeBenedetti, F. & Gattorno, M., Jul 2019, In : Journal of Clinical Immunology. 39, 5, p. 476-485 10 p.

Research output: Contribution to journalArticle

2017

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: A multicentre national study

Caorsi, R., Penco, F., Grossi, A., Insalaco, A., Omenetti, A., Alessio, M., Conti, G., Marchetti, F., Picco, P., Tommasini, A., Martino, S., Malattia, C., Gallizi, R., Podda, R. A., Salis, A., Falcini, F., Schena, F., Garbarino, F., Morreale, A., Pardeo, M. & 11 others, Ventrici, C., Passarelli, C., Zhou, Q., Severino, M., Gandolfo, C., Damonte, G., Martini, A., Ravelli, A., Aksentijevich, I., Ceccherini, I. & Gattorno, M., Oct 1 2017, In : Annals of the Rheumatic Diseases. 76, 10, p. 1648-1656 9 p.

Research output: Contribution to journalArticle

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: A multicentre national study

Caorsi, R., Penco, F., Grossi, A., Insalaco, A., Omenetti, A., Alessio, M., Conti, G., Marchetti, F., Picco, P., Tommasini, A., Martino, S., Malattia, C., Gallizi, R., Podda, R. A., Salis, A., Falcini, F., Schena, F., Garbarino, F., Morreale, A., Pardeo, M. & 11 others, Ventrici, C., Passarelli, C., Zhou, Q., Severino, M., Gandolfo, C., Damonte, G., Martini, A., Ravelli, A., Aksentijevich, I., Ceccherini, I. & Gattorno, M., 2017, In : Annals of the Rheumatic Diseases. 76, 10, p. 1648-1656 9 p.

Research output: Contribution to journalArticle

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: A multicentre national study

Caorsi, R., Penco, F., Grossi, A., Insalaco, A., Omenetti, A., Alessio, M., Conti, G., Marchetti, F., Picco, P., Tommasini, A., Martino, S., Malattia, C., Gallizi, R., Podda, R. A., Salis, A., Falcini, F., Schena, F., Garbarino, F., Morreale, A., Pardeo, M. & 11 others, Ventrici, C., Passarelli, C., Zhou, Q., Severino, M., Gandolfo, C., Damonte, G., Martini, A., Ravelli, A., Aksentijevich, I., Ceccherini, I. & Gattorno, M., 2017, In : Annals of the Rheumatic Diseases. 76, 10, p. 1648-1656 9 p.

Research output: Contribution to journalArticle

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression

Gherardi, S., Bovolenta, M., Passarelli, C., Falzarano, M. S., Pigini, P., Scotton, C., Neri, M., Armaroli, A., Osman, H., Selvatici, R., Gualandi, F., Recchia, A., Mora, M., Bernasconi, P., Maggi, L., Morandi, L., Ferlini, A. & Perini, G., Nov 1 2017, In : Biochimica et Biophysica Acta - Gene Regulatory Mechanisms. 1860, 11, p. 1138-1147 10 p.

Research output: Contribution to journalArticle

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression

Gherardi, S., Bovolenta, M., Passarelli, C., Falzarano, M. S., Pigini, P., Scotton, C., Neri, M., Armaroli, A., Osman, H., Selvatici, R., Gualandi, F., Recchia, A., Mora, M., Bernasconi, P., Maggi, L., Morandi, L., Ferlini, A. & Perini, G., Nov 2017, In : Biochimica et Biophysica Acta - General Subjects. 1860, 11, p. 1138-1147 10 p.

Research output: Contribution to journalArticle

2016

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

Scotton, C., Bovolenta, M., Schwartz, E., Falzarano, M. S., Martoni, E., Passarelli, C., Armaroli, A., Osman, H., Rodolico, C., Messina, S., Pegoraro, E., D'Amico, A., Bertini, E., Gualandi, F., Neri, M., Selvatici, R., Boffi, P., Maioli, M. A., Lochmüller, H., Straub, V. & 21 others, Bushby, K., Castrignanò, T., Pesole, G., Sabatelli, P., Merlini, L., Braghetta, P., Bonaldo, P., Bernardi, P., Foley, R., Cirak, S., Zaharieva, I., Muntoni, F., Capitanio, D., Gelfi, C., Kotelnikova, E., Yuryev, A., Lebowitz, M., Zhang, X., Hodge, B. A., Esser, K. A. & Ferlini, A., Apr 1 2016, In : Journal of Cell Science. 129, 8, p. 1671-1684 14 p.

Research output: Contribution to journalArticle

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

Scotton, C., Bovolenta, M., Schwartz, E., Falzarano, M. S., Martoni, E., Passarelli, C., Armaroli, A., Osman, H., Rodolico, C., Messina, S., Pegoraro, E., D'Amico, A., Bertini, E. S., Gualandi, F., Neri, M., Selvatici, R., Boffi, P., Maioli, M. A., Lochmüller, H., Straub, V. & 21 others, Bushby, K., Castrignanò, T., Pesole, G., Sabatelli, P., Merlini, L., Braghetta, P., Bonaldo, P., Bernardi, P., Foley, R., Cirak, S., Zaharieva, I., Muntoni, F., Capitanio, D., Gelfi, C., Kotelnikova, E., Yuryev, A., Lebowitz, M., Zhang, X., Hodge, B. A., Esser, K. A. & Ferlini, A., Apr 1 2016, In : Journal of Cell Science. 129, 8, p. 1671-1684 14 p.

Research output: Contribution to journalArticle

POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

Schindler, R. F. R., Scotton, C., Zhang, J., Passarelli, C., Ortiz-Bonnin, B., Simrick, S., Schwerte, T., Poon, K. L., Fang, M., Rinné, S., Froese, A., Nikolaev, V. O., Grunert, C., Müller, T., Tasca, G., Sarathchandra, P., Drago, F., Dallapiccola, B., Rapezzi, C., Arbustini, E. & 14 others, Romana Di Raimo, F., Neri, M., Selvatici, R., Gualandi, F., Fattori, F., Pietrangelo, A., Li, W., Jiang, H., Xu, X., Bertini, E. S., Decher, N., Wang, J., Brand, T. & Ferlini, A., Jan 4 2016, In : Journal of Clinical Investigation. 126, 1, p. 239-253 15 p.

Research output: Contribution to journalArticle

POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

Schindler, R. F. R., Scotton, C., Zhang, J., Passarelli, C., Ortiz-Bonnin, B., Simrick, S., Schwerte, T., Poon, K. L., Fang, M., Rinné, S., Froese, A., Nikolaev, V. O., Grunert, C., Müller, T., Tasca, G., Sarathchandra, P., Drago, F., Dallapiccola, B., Rapezzi, C., Arbustini, E. & 14 others, Romana Di Raimo, F., Neri, M., Selvatici, R., Gualandi, F., Fattori, F., Pietrangelo, A., Li, W., Jiang, H., Xu, X., Bertini, E., Decher, N., Wang, J., Brand, T. & Ferlini, A., Jan 4 2016, In : Journal of Clinical Investigation. 126, 1, p. 239-253 15 p.

Research output: Contribution to journalArticle

2015

Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice (Nature Medicine (2014))

Wein, N., Vulin, A., Falzarano, M. S., Szigyarto, C. A. K., Maiti, B., Findlay, A., Heller, K. N., Uhlén, M., Bakthavachalu, B., Messina, S., Vita, G., Passarelli, C., Gualandi, F., Wilton, S. D., Rodino-Klapac, L. R., Yang, L., Dunn, D. M., Schoenberg, D. R., Weiss, R. B., Howard, M. T. & 2 others, Ferlini, A. & Flanigan, K. M., Apr 1 2015, In : Nature Medicine. 21, 4, p. 414 1 p.

Research output: Contribution to journalArticle

Duchenne muscular dystrophy: From diagnosis to therapy

Falzarano, M. S., Scotton, C., Passarelli, C. & Ferlini, A., Oct 7 2015, In : Molecules. 20, 10, p. 18168-18184 17 p.

Research output: Contribution to journalArticle

Erratum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice: (Nature Medicine (2014) 20 (992-1000) DOI:10.1038/nm.3628)

Wein, N., Vulin, A., Falzarano, M. S., Szigyarto, C. A. K., Maiti, B., Findlay, A., Heller, K. N., Uhlén, M., Bakthavachalu, B., Messina, S., Vita, G., Passarelli, C., Brioschi, S., Bovolenta, M., Neri, M., Gualandi, F., Wilton, S. D., Rodino-Klapac, L. R., Yang, L., Dunn, D. M. & 5 others, Schoenberg, D. R., Weiss, R. B., Howard, M. T., Ferlini, A. & Flanigan, K. M., May 1 2015, In : Nature Medicine. 21, 5, p. 537 1 p.

Research output: Contribution to journalArticle

Validation of genetic modifiers for Duchenne muscular dystrophy: A multicentre study assessing SPP1 and LTBP4 variants

Van Den Bergen, J. C., Hiller, M., Böhringer, S., Vijfhuizen, L., Ginjaar, H. B., Chaouch, A., Bushby, K., Straub, V., Scoto, M., Cirak, S., Humbertclaude, V., Claustres, M., Scotton, C., Passarelli, C., Lochmüller, H., Muntoni, F., Tuffery-Giraud, S., Ferlini, A., Aartsma-Rus, A. M., Verschuuren, J. J. G. M. & 2 others, 'T Hoen, P. A. C. & Spitali, P., Oct 1 2015, In : Journal of Neurology, Neurosurgery and Psychiatry. 86, 10, p. 1060-1065 6 p.

Research output: Contribution to journalArticle

2014

Biodistribution studies of polymeric nanoparticles for drug delivery in mice

Falzarano, M. S., Bassi, E., Passarelli, C., Braghetta, P. & Ferlini, A., Nov 1 2014, In : Human Gene Therapy. 25, 11, p. 927-928 2 p.

Research output: Contribution to journalArticle

Biomarkers in rare neuromuscular diseases

Scotton, C., Passarelli, C., Neri, M. & Ferlini, A., Jul 1 2014, In : Experimental Cell Research. 325, 1, p. 44-49 6 p.

Research output: Contribution to journalArticle

Nanoparticle delivery of antisense oligonucleotides and their application in the exon skipping strategy for duchenne muscular dystrophy

Falzarano, M. S., Passarelli, C. & Ferlini, A., Feb 1 2014, In : Nucleic Acid Therapeutics. 24, 1, p. 87-100 14 p.

Research output: Contribution to journalArticle

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

Wein, N., Vulin, A., Falzarano, M. S., Szigyarto, C. A. K., Maiti, B., Findlay, A., Heller, K. N., Uhlén, M., Bakthavachalu, B., Messina, S., Vita, G., Passarelli, C., Brioschi, S., Bovolenta, M., Neri, M., Gualandi, F., Wilton, S. D., Rodino-Klapac, L. R., Yang, L., Dunn, D. M. & 5 others, Schoenberg, D. R., Weiss, R. B., Howard, M. T., Ferlini, A. & Flanigan, K. M., Sep 1 2014, In : Nature Medicine. 20, 9, p. 992-1000 9 p.

Research output: Contribution to journalArticle

2013

Biodistribution and molecular studies on orally administered nanoparticle-AON complexes encapsulated with alginate aiming at inducing dystrophin rescue in mdx mice

Falzarano, M. S., Passarelli, C., Bassi, E., Fabris, M., Perrone, D., Sabatelli, P., Maraldi, N. M., Donà, S., Selvatici, R., Bonaldo, P., Sparnacci, K., Laus, M., Braghetta, P., Rimessi, P. & Ferlini, A., 2013, In : BioMed Research International. 2013, 527418.

Research output: Contribution to journalArticle

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3

Zanni, G., Scotton, C., Passarelli, C., Fang, M., Barresi, S., Dallapiccola, B., Wu, B., Gualandi, F., Ferlini, A., Bertini, E. & Wei, W., 2013, In : Neurogenetics. 14, 3-4, p. 247-250 4 p.

Research output: Contribution to journalArticle

2012

All glutathione forms are depleted in blood of obese and type 1 diabetic children

Pastore, A., Ciampalini, P., Tozzi, G., Pecorelli, L., Passarelli, C., Bertini, E. & Piemonte, F., May 2012, In : Pediatric Diabetes. 13, 3, p. 272-277 6 p.

Research output: Contribution to journalArticle

Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in ullrich myopathy

Gualandi, F., Manzati, E., Sabatelli, P., Passarelli, C., Bovolenta, M., Pellegrini, C., Perrone, D., Squarzoni, S., Pegoraro, E., Bonaldo, P. & Ferlini, A., Dec 1 2012, In : Human Gene Therapy. 23, 12, p. 1313-1318 6 p.

Research output: Contribution to journalArticle

DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy

Barone, R., Aiello, C., Race, V., Morava, E., Foulquier, F., Riemersma, M., Passarelli, C., Concolino, D., Carella, M., Santorelli, F., Vleugels, W., Mercuri, E., Garozzo, D., Sturiale, L., Messina, S., Jaeken, J., Fiumara, A., Wevers, R. A., Bertini, E., Matthijs, G. & 1 others, Lefeber, D. J., Oct 2012, In : Annals of Neurology. 72, 4, p. 550-558 9 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

2011

Effect of protein glutathionylation on neuronal cytoskeleton: A potential link to neurodegeneration

Carletti, B., Passarelli, C., Sparaco, M., Tozzi, G., Pastore, A., Bertini, E. & Piemonte, F., Sep 29 2011, In : Neuroscience. 192, p. 285-294 10 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

Friedreich's ataxia: Oxidative stress and cytoskeletal abnormalities

Sparaco, M., Gaeta, L. M., Santorelli, F. M., Passarelli, C., Tozzi, G., Bertini, E., Simonati, A., Scaravilli, F., Taroni, F., Duyckaerts, C., Feleppa, M. & Piemonte, F., Dec 15 2009, In : Journal of the Neurological Sciences. 287, 1-2, p. 111-118 8 p.

Research output: Contribution to journalArticle

2008

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