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2020

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Patel, V. L., Busch, E. L., Friebel, T. M., Cronin, A., Leslie, G., McGuffog, L., Adlard, J., Agata, S., Agnarsson, B. A., Ahmed, M., Aittomäki, K., Alducci, E., Andrulis, I. L., Arason, A., Arnold, N., Artioli, G., Arver, B., Auber, B., Azzollini, J., Balmaña, J. & 243 others, Barkardottir, R. B., Barnes, D. R., Barroso, A., Barrowdale, D., Belotti, M., Benitez, J., Bertelsen, B., Blok, M. J., Bodrogi, I., Bonadona, V., Bonanni, B., Bondavalli, D., Boonen, S. E., Borde, J., Borg, A., Bradbury, A. R., Brady, A., Brewer, C., Brunet, J., Buecher, B., Buys, S. S., Cabezas-Camarero, S., Caldés, T., Caliebe, A., Caligo, M. A., Calvello, M., Campbell, I. G., Carnevali, I., Carrasco, E., Chan, T. L., Chu, A. T. W., Chung, W. K., Claes, K. B. M., Collaborators, G. S., Collaborators, E., Cook, J., Cortesi, L., Couch, F. J., Daly, M. B., Damante, G., Darder, E., Davidson, R., de la Hoya, M., Puppa, L. D., Dennis, J., Díez, O., Ding, Y. C., Ditsch, N., Domchek, S. M., Donaldson, A., Dworniczak, B., Easton, D. F., Eccles, D. M., Eeles, R. A., Ehrencrona, H., Ejlertsen, B., Engel, C., Evans, D. G., Faivre, L., Faust, U., Feliubadaló, L., Foretova, L., Fostira, F., Fountzilas, G., Frost, D., García-Barberán, V., Garre, P., Gauthier-Villars, M., Géczi, L., Gehrig, A., Gerdes, A-M., Gesta, P., Giannini, G., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gutierrez-Barrera, A. M., Hahnen, E., Hamann, U., Hauke, J., Herold, N., Hogervorst, F. B. L., Honisch, E., Hopper, J. L., Hulick, P. J., Investigators, K., Investigators, H., Izatt, L., Jager, A., James, P., Janavicius, R., Jensen, U. B., Jensen, T. D., Johannsson, O. T., John, E. M., Joseph, V., Kang, E., Kast, K., Kiiski, J. I., Kim, S-W., Kim, Z., Ko, K-P., Konstantopoulou, I., Kramer, G., Krogh, L., Kruse, T. A., Kwong, A., Larsen, M., Lasset, C., Lautrup, C., Lazaro, C., Lee, J., Lee, J. W., Lee, M. H., Lemke, J., Lesueur, F., Liljegren, A., Lindblom, A., Llovet, P., Lopez-Fernández, A., Lopez-Perolio, I., Lorca, V., Loud, J. T., Ma, E. S. K., Mai, P. L., Manoukian, S., Mari, V., Martin, L., Matricardi, L., Mebirouk, N., Medici, V., Meijers-Heijboer, H. E. J., Meindl, A., Mensenkamp, A. R., Miller, C., Gomes, D. M., Montagna, M., Mooij, T. M., Moserle, L., Mouret-Fourme, E., Mulligan, A. M., Nathanson, K. L., Navratilova, M., Nevanlinna, H., Niederacher, D., Nielsen, F. C. C., Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Ong, K-R., Osorio, A., Ott, C-E., Palli, D., Park, S. K., Parsons, M. T., Pedersen, I. S., Peissel, B., Peixoto, A., Pérez-Segura, P., Peterlongo, P., Petersen, A. H., Porteous, M. E., Pujana, M. A., Radice, P., Ramser, J., Rantala, J., Rashid, M. U., Rhiem, K., Rizzolo, P., Robson, M. E., Rookus, M. A., Rossing, C. M., Ruddy, K. J., Santos, C., Saule, C., Scarpitta, R., Schmutzler, R. K., Schuster, H., Senter, L., Seynaeve, C. M., Shah, P. D., Sharma, P., Shin, V. Y., Silvestri, V., Simard, J., Singer, C. F., Skytte, A-B., Snape, K., Solano, A. R., Soucy, P., Southey, M. C., Spurdle, A. B., Steele, L., Steinemann, D., Stoppa-Lyonnet, D., Stradella, A., Sunde, L., Sutter, C., Tan, Y. Y., Teixeira, M. R., Teo, S. H., Thomassen, M., Tibiletti, M. G., Tischkowitz, M., Tognazzo, S., Toland, A. E., Tommasi, S., Torres, D., Toss, A., Trainer, A. H., Tung, N., van Asperen, C. J., van der Baan, F. H., van der Kolk, L. E., van der Luijt, R. B., van Hest, L. P., Varesco, L., Varon-Mateeva, R., Viel, A., Vierstrate, J., Villa, R., von Wachenfeldt, A., Wagner, P., Wang-Gohrke, S., Wappenschmidt, B., Weitzel, J. N., Wieme, G., Yadav, S., Yannoukakos, D., Yoon, S-Y., Zanzottera, C., Zorn, K. K., D'Amico, A. V., Freedman, M. L., Pomerantz, M. M., Chenevix-Trench, G., Antoniou, A. C., Neuhausen, S. L., Ottini, L., Nielsen, H. R. & Rebbeck, T. R., Feb 1 2020, In : Cancer Research. 80, 3, p. 624-638 15 p.

Research output: Contribution to journalArticle

2019

Cardiac and neuromuscular features of patients with LMNA-related cardiomyopathy

Italian Network for Laminopathies (NIL), Peretto, G., Di Resta, C., Perversi, J., Forleo, C., Maggi, L., Politano, L., Barison, A., Previtali, S. C., Carboni, N., Brun, F., Pegoraro, E., D'Amico, A., Rodolico, C., Magri, F., Manzi, R. C., Palladino, A., Isola, F., Gigli, L., Mongini, T. E. & 21 others, Semplicini, C., Calore, C., Ricci, G., Comi, G. P., Ruggiero, L., Bertini, E., Bonomo, P., Nigro, G., Resta, N., Emdin, M., Favale, S., Siciliano, G., Santoro, L., Sinagra, G., Limongelli, G., Ambrosi, A., Ferrari, M., Golzio, P. G., Bella, P. D., Benedetti, S. & Sala, S., 2019, In : Annals of Internal Medicine. 171, 7, p. 458-463 6 p.

Research output: Contribution to journalArticle

Cardiac and Neuromuscular Features of Patients with LMNA-Related Cardiomyopathy

Italian Network for Laminopathies (NIL), Sep 3 2019, In : Annals of Internal Medicine.

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

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

on behalf on the International DMD group, Aug 1 2019, In : PLoS One. 14, 7, p. e0220714

Research output: Contribution to journalArticle

Longitudinal natural history in young boys with Duchenne muscular dystrophy

Coratti, G., Brogna, C., Norcia, G., Ricotti, V., Abbott, L., D'Amico, A., Berardinelli, A., Vita, G. L., Lucibello, S., Messina, S., Sansone, V., Albamonte, E., Colia, G., Salmin, F., Gardani, A., Manzur, A., Main, M., Baranello, G., Arnoldi, M. T., Parsons, J. & 6 others, Carry, T., Connolly, A. M., Bertini, E., Muntoni, F., Pane, M. & Mercuri, E., 2019, In : Neuromuscular Disorders. 29, (11), p. 857-862 6 p.

Research output: Contribution to journalArticle

Longitudinal natural history in young boys with Duchenne muscular dystrophy

Coratti, G., Brogna, C., Norcia, G., Ricotti, V., Abbott, L., D'Amico, A., Berardinelli, A., Vita, G. L., Lucibello, S., Messina, S., Sansone, V., Albamonte, E., Colia, G., Salmin, F., Gardani, A., Manzur, A., Main, M., Baranello, G., Arnoldi, M. T., Parsons, J. & 6 others, Carry, T., Connolly, A. M., Bertini, E., Muntoni, F., Pane, M. & Mercuri, E., 2019, In : Neuromuscular Disorders. 29, (11), p. 857-862 6 p.

Research output: Contribution to journalArticle

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

group, O. B. O. T. I. DMD., Brogna, C., Coratti, G., Pane, M., Ricotti, V., Messina, S., D'Amico, A., Bruno, C., Vita, G., Berardinelli, A., Mazzone, E., Magri, F., Ricci, F., Mongini, T., Battini, R., Bello, L., Pegoraro, E., Baranello, G., Previtali, S. C., Politano, L. & 7 others, Comi, G. P., Sansone, V. A., Donati, A., Bertini, E., Muntoni, F., Goemans, N. & Mercuri, E., 2019, In : PLoS One. 14, 6, p. e0218683

Research output: Contribution to journalArticle

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

on behalf on the International DMD group, 2019, In : PLoS One. 14, 6, p. e0218683

Research output: Contribution to journalArticle

Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data

Group, I. E. A. P. W., Pane, M., Coratti, G., Sansone, V. A., Messina, S., Bruno, C., Catteruccia, M., Sframeli, M., Albamonte, E., Pedemonte, M., D'Amico, A., Bravetti, C., Berti, B., Brigati, G., Tacchetti, P., Salmin, F., de Sanctis, R., Lucibello, S., Piastra, M., Genovese, O. & 4 others, Bertini, E., Vita, G., Tiziano, F. D. & Mercuri, E., Sep 1 2019, In : Annals of Neurology. 86, 3, p. 443-451 9 p.

Research output: Contribution to journalArticle

X-linked myotubular myopathy: A prospective international natural history study

Annoussamy, M., Lilien, C., Gidaro, T., Gargaun, E., Chê, V., Schara, U., Gangfuß, A., D'Amico, A., Dowling, J. J., Darras, B. T., Daron, A., Hernandez, A., de Lattre, C., Arnal, J-M., Mayer, M., Cuisset, J-M., Vuillerot, C., Fontaine, S., Bellance, R., Biancalana, V. & 4 others, Buj-Bello, A., Hogrel, J-Y., Landy, H. & Servais, L., Apr 16 2019, In : Neurology. 92, 16, p. e1852-e1867

Research output: Contribution to journalArticle

An observational study of functional abilities in infants, children, and adults with type 1 SMA

Italian EAP working Group, Aug 21 2018, In : Neurology. 91, 8, p. e696-e703 8 p.

Research output: Contribution to journalArticle

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement

Dabaj, I., Carlier, R. Y., Gómez-Andrés, D., Neto, O. A., Bertini, E., D'amico, A., Fattori, F., PéRéon, Y., Castiglioni, C., Rodillo, E., Catteruccia, M., Guimarães, J. B., Oliveira, A. S. B., Reed, U. C., Mesrob, L., Lechner, D., Boland, A., Deleuze, J-F., Malfatti, E., Bonnemann, C. & 6 others, Laporte, J., Romero, N., Felter, A., Quijano-Roy, S., Moreno, C. A. M. & Zanoteli, E., Aug 2018, In : Muscle and Nerve. 58, 2, p. 224-234 11 p.

Research output: Contribution to journalArticle

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

Giugliano, T., Savarese, M., Garofalo, A., Picillo, E., Fiorillo, C., D'Amico, A., Maggi, L., Ruggiero, L., Vercelli, L., Magri, F., Fattori, F., Torella, A., Ergoli, M., Rubegni, A., Fanin, M., Musumeci, O., Bleecker, J. D., Peverelli, L., Moggio, M., Mercuri, E. & 13 others, Toscano, A., Mora, M., Santoro, L., Mongini, T., Bertini, E., Bruno, C., Minetti, C., Comi, G. P., Santorelli, F. M., Angelini, C., Politano, L., Piluso, G. & Nigro, V., Oct 26 2018, In : Genes. 9, 11

Research output: Contribution to journalArticle

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., 2018, In : Clinical Genetics. 93, 6, p. 1234-1239

Research output: Contribution to journalArticle

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., Jun 2018, In : Clinical Genetics. 93, 6, p. 1234-1239 6 p.

Research output: Contribution to journalArticle

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., Jun 1 2018, In : Clinical Genetics. 93, 6, p. 1234-1239 6 p.

Research output: Contribution to journalArticle

Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?

Vicari, S., Piccini, G., Mercuri, E., Battini, R., Chieffo, D., Bulgheroni, S., Pecini, C., Lucibello, S., Lenzi, S., Moriconi, F., Pane, M., D'Amico, A., Astrea, G., Baranello, G., Riva, D., Cioni, G. & Alfieri, P., Jan 16 2018, In : PLoS One. 13, 1, p. e0191164 10 p.

Research output: Contribution to journalArticle

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

Maggi, L., Bernasconi, P., D'Amico, A., Brugnoni, R., Fiorillo, C., Garibaldi, M., Astrea, G., Bruno, C., Santorelli, F. M., Liguori, R., Antonini, G., Evoli, A., Bertini, E., Rodolico, C. & Mantegazza, R., Dec 15 2018, In : Neurological Sciences. 12 p.

Research output: Contribution to journalArticle

MRI in sarcoglycanopathies: a large international cohort study

Tasca, G., Monforte, M., Díaz-Manera, J., Brisca, G., Semplicini, C., D'Amico, A., Fattori, F., Pichiecchio, A., Berardinelli, A., Maggi, L., Maccagnano, E., Løkken, N., Marini-Bettolo, C., Munell, F., Sanchez, A., Alshaikh, N., Voermans, N. C., Dastgir, J., Vlodavets, D., Haberlová, J. & 15 others, Magnano, G., Walter, M. C., Quijano-Roy, S., Carlier, R-Y., van Engelen, B. G. M., Vissing, J., Straub, V., Bönnemann, C. G., Mercuri, E., Muntoni, F., Pegoraro, E., Bertini, E., Udd, B., Ricci, E. & Bruno, C., 2018, In : Journal of neurology, neurosurgery, and psychiatry. 89, 1, p. 72-77 6 p.

Research output: Contribution to journalArticle

MRI in sarcoglycanopathies: A large international cohort study

Tasca, G., Monforte, M., Díaz-Manera, J., Brisca, G., Semplicini, C., D'Amico, A., Fattori, F., Pichiecchio, A., Berardinelli, A., Maggi, L., Maccagnano, E., Løkken, N., Marini-Bettolo, C., Munell, F., Sanchez, A., Alshaikh, N., Voermans, N. C., Dastgir, J., Vlodavets, D., Haberlová, J. & 15 others, Magnano, G., Walter, M. C., Quijano-Roy, S., Carlier, R-Y., Van Engelen, B. G. M., Vissing, J., Straub, V., Bönnemann, C. G., Mercuri, E., Muntoni, F., Pegoraro, E., Bertini, E., Udd, B., Ricci, E. & Bruno, C., 2018, In : Journal of Neurology, Neurosurgery and Psychiatry. 89, 1

Research output: Contribution to journalArticle

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

Castiglioni, C., Fattori, F., Udd, B., de Los Angeles Avaria, M., Suarez, B., D'Amico, A., Malandrini, A., Carrozzo, R., Verrigni, D., Bertini, E. & Tasca, G., Mar 2018, In : European Journal of Human Genetics. 26, 3, p. 367-373 7 p.

Research output: Contribution to journalArticle

Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function

on behalf of the Italian EAP working Group, Jul 1 2018, In : Neuromuscular Disorders. 28, 7, p. 582-585 4 p.

Research output: Contribution to journalArticle

Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function

Italian EAP working Group, Jul 2018, In : Neuromuscular Disorders. 28, 7, p. 582-585 4 p.

Research output: Contribution to journalArticle

Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data

Pane, M., Coratti, G., Brogna, C., Mazzone, E. S., Mayhew, A., Fanelli, L., Messina, S., D'Amico, A., Catteruccia, M., Scutifero, M., Frosini, S., Lanzillotta, V., Colia, G., Cavallaro, F., Rolle, E., De Sanctis, R., Forcina, N., Petillo, R., Barp, A., Gardani, A. & 19 others, Pini, A., Monaco, G., D'Angelo, M. G., Zanin, R., Vita, G. L., Bruno, C., Mongini, T., Ricci, F., Pegoraro, E., Bello, L., Berardinelli, A., Battini, R., Sansone, V., Albamonte, E., Baranello, G., Bertini, E., Politano, L., Sormani, M. P. & Mercuri, E., 2018, In : PLoS One. 13, 6, p. e0199223

Research output: Contribution to journalArticle

2017

Congenital myopathies: Clinical phenotypes and new diagnostic tools

Cassandrini, D., Trovato, R., Rubegni, A., Lenzi, S., Fiorillo, C., Baldacci, J., Minetti, C., Astrea, G., Bruno, C., Santorelli, F. M., Berardinelli, A., Bertini, E. S., Comi, G., D'Amico, A., Donati, M. A., Dotti, M. T., Fattori, F., Grandis, M., Maggi, L., Magri, F. & 25 others, Maioli, M. A., Malandrini, A., Mari, F., Massa, R., Mercuri, E., Merlini, L., Moggio, M., Mora, M., Morandi, L. O., Musumeci, O., Nigro, V., Pane, M., Pegoraro, E., Pennisi, E. M., Peverelli, L., Ricci, G., Rodolico, C., Ruggiero, L., Sacchini, M., Santoro, L., Savarese, M., Siciliano, G., Simonati, A., Tonin, P. & Toscano, A., 2017, In : Italian Journal of Pediatrics. 43, 1

Research output: Contribution to journalArticle

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

D'Amico, A., Catteruccia, M., Baranello, G., Politano, L., Govoni, A., Previtali, S. C., Pane, M., D'Angelo, M. G., Bruno, C., Messina, S., Ricci, F., Pegoraro, E., Pini, A., Berardinelli, A., Gorni, K., Battini, R., Vita, G., Trucco, F., Scutifero, M., Petillo, R. & 8 others, D'Ambrosio, P., Ardissone, A., Pasanisi, B., Mongini, T., Moggio, M., Comi, G. P., Mercuri, E. & Bertini, E., 2017, In : Neuromuscular Disorders. 27, 5, p. 447-451 5 p.

Research output: Contribution to journalArticle

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

D'Amico, A., Catteruccia, M., Baranello, G., Politano, L., Govoni, A., Previtali, S. C., Pane, M., D'Angelo, M. G., Bruno, C., Messina, S., Ricci, F., Pegoraro, E., Pini, A., Berardinelli, A., Gorni, K., Battini, R., Vita, G., Trucco, F., Scutifero, M., Petillo, R. & 8 others, D'Ambrosio, P., Ardissone, A., Pasanisi, B., Mongini, T., Moggio, M., Comi, G. P., Mercuri, E. & Bertini, E., May 27 2017, In : Neuromuscular Disorders. 27, 5, p. 447-451 5 p.

Research output: Contribution to journalArticle

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

D'Amico, A., Catteruccia, M., Baranello, G., Politano, L., Govoni, A., Previtali, SC., Pane, M., D'Angelo, MG., Bruno, C., Messina, S., Ricci, F., Pegoraro, E., Pini, A., Berardinelli, A., Gorni, K., Battini, R., Vita, G., Trucco, F., Scutifero, M., Petillo, R. & 8 others, D'Ambrosio, P., Ardissone, A., Pasanisi, B., Mongini, T., Moggio, M., Comi, GP., Mercuri, E. & Bertini, E., 2017, In : Neuromuscular Disorders. 27, 5, p. 447-451 5 p.

Research output: Contribution to journalArticle

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

D'Amico, A., Catteruccia, M., Baranello, G., Politano, L., Govoni, A., Previtali, S. C., Pane, M., D'Angelo, M. G., Bruno, C., Messina, S., Ricci, F., Pegoraro, E., Pini, A., Berardinelli, A., Gorni, K., Battini, R., Vita, G. L., Trucco, F., Scutifero, M., Petillo, R. & 9 others, D'Ambrosio, P., Ardissone, A., Pasanisi, B., Vita, G., Mongini, T., Moggio, M., Comi, G. P., Mercuri, E. & Bertini, E., 2017, In : Neuromuscular Disorders. 27, 5, p. 447-451 5 p.

Research output: Contribution to journalArticle

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

D'Amico, A., Catteruccia, M., Baranello, G., Politano, L., Govoni, A., Previtali, S. C., Pane, M., D'Angelo, M. G., Bruno, C., Messina, S., Ricci, F., Pegoraro, E., Pini, A., Berardinelli, A., Gorni, K., Battini, R., Vita, G., Trucco, F., Scutifero, M., Petillo, R. & 9 others, D'Ambrosio, P., Ardissone, A., Pasanisi, B., Vita, G., Mongini, T., Moggio, M., Comi, G. P., Mercuri, E. & Bertini, E., 2017, In : Neuromuscular Disorders. 27, 5, p. 447-451 5 p.

Research output: Contribution to journalArticle

Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions

Politano, L., Scutifero, M., Patalano, M., Sagliocchi, A., Zaccaro, A., Civati, F., Brighina, E., Vita, G., Messina, S., Sframeli, M., Lombardo, M. E., Scalise, R., Colia, G., Catteruccia, M., Berardinelli, A., Motta, M. C., Gaiani, A., Semplicini, C., Bello, L., Astrea, G. & 9 others, Ricci, G., D'Angelo, M. G., Vita, G., Pane, M., D'Amico, A., Balottin, U., Angelini, C., Battini, R. & Magliano, L., 2017, In : Acta Myologica. 36, 1, p. 19-24 6 p.

Research output: Contribution to journalArticle

Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs

Magliano, L., Scutifero, M., Patalano, M., Sagliocchi, A., Zaccaro, A., Civati, F., Brighina, E., Vita, G., Messina, S., Sframeli, M., Lombardo, M. E., Scalise, R., Colia, G., Catteruccia, M., Berardinelli, A., Motta, M. C., Gaiani, A., Semplicini, C., Bello, L., Astrea, G. & 9 others, Ricci, G., D'Angelo, M. G., Vita, G., Pane, M., D'Amico, A., Balottin, U., Angelini, C., Battini, R. & Politano, L., 2017, In : Acta Myologica. 36, 2, p. 41-45 5 p.

Research output: Contribution to journalArticle

MRI in sarcoglycanopathies: a large international cohort study

Tasca, G., Monforte, M., Díaz-Manera, J., Brisca, G., Semplicini, C., D'Amico, A., Fattori, F., Pichiecchio, A., Berardinelli, A., Maggi, L., Maccagnano, E., Løkken, N., Marini-Bettolo, C., Munell, F., Sanchez, A., Alshaikh, N., Voermans, N. C., Dastgir, J., Vlodavets, D., Haberlová, J. & 15 others, Magnano, G., Walter, M. C., Quijano-Roy, S., Carlier, R. Y., van Engelen, B. G. M., Vissing, J., Straub, V., Bönnemann, C. G., Mercuri, E., Muntoni, F., Pegoraro, E., Bertini, E., Udd, B., Ricci, E. & Bruno, C., Sep 9 2017, In : Journal of neurology, neurosurgery, and psychiatry. 89, 1, p. 72-77 6 p.

Research output: Contribution to journalArticle

Muscle MRI in neutral lipid storage disease (NLSD)

Garibaldi, M., Tasca, G., Diaz-Manera, J., Ottaviani, P., Laschena, F., Pantoli, D., Gerevini, S., Fiorillo, C., Maggi, L., Tasca, E., D'Amico, A., Musumeci, O., Toscano, A., Bruno, C., Massa, R., Angelini, C., Bertini, E., Antonini, G. & Pennisi, E. M., Jul 2017, In : Journal of Neurology. 264, 7, p. 1334-1342 9 p.

Research output: Contribution to journalArticle

Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life

Lehmann-Horn, F., D'Amico, A., Bertini, E., Lomonaco, M., Merlini, L., Nelson, K. R., Philippi, H., Siciliano, G., Spaans, F. & Jurkat-Rott, K., Sep 2017, In : Acta Myologica. 36, 3, p. 125-134 10 p.

Research output: Contribution to journalArticle

Neutral Lipid Storage Diseases

Pennisi, E. M., Arca, M., Bertini, E., Bruno, C., Cassandrini, D., D'amico, A., Garibaldi, M., Gragnani, F., Maggi, L., Massa, R., Missaglia, S., Morandi, L., Musumeci, O., Pegoraro, E., Rastelli, E., Santorelli, F. M., Tasca, E., Tavian, D., Toscano, A., Angelini, C. & 1 others, Group, I. NLSD., May 12 2017, In : Orphanet Journal of Rare Diseases. 12, 1

Research output: Contribution to journalArticle

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

Pennisi, E. M., Arca, M., Bertini, E., Bruno, C., Cassandrini, D., D'amico, A., Garibaldi, M., Gragnani, F., Maggi, L., Massa, R., Missaglia, S., Morandi, L., Musumeci, O., Pegoraro, E., Rastelli, E., Santorelli, F. M., Tasca, E., Tavian, D., Toscano, A. & Angelini, C., 2017, In : Orphanet Journal of Rare Diseases. 12, 1, p. 1-10 10 p.

Research output: Contribution to journalArticle

Oxidative stress in Duchenne muscular dystrophy: Focus on the NRF2 redox pathway

Petrillo, S., Pelosi, L., Piemonte, F., Travaglini, L., Forcina, L., Catteruccia, M., Petrini, S., Verardo, M., D'Amico, A., Musaró, A. & Bertini, E., Jul 1 2017, In : Human Molecular Genetics. 26, 14, p. 2781-2790 10 p.

Research output: Contribution to journalArticle

Strategies for Disease Prevention and Health Promotion in Urban Areas: The Erice 50 Charter

50th Course "Urban Health. Instruments for promoting health and for assessing the hygienic and sanitary conditions in urban areas", Jan 1 2017, In : Annali di Igiene. 29, 6, p. 481-493 13 p.

Research output: Contribution to journalArticle

2016