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2012

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

Fanin, M., Anichini, A., Cassandrini, D., Fiorillo, C., Scapolan, S., Minetti, C., Cassanello, M., Donati, M. A., Siciliano, G., D'Amico, A., Lilliu, F., Bruno, C. & Angelini, C., Sep 2012, In : Clinical Genetics. 82, 3, p. 232-239 8 p.

Research output: Contribution to journalArticle

Attention deficit hyperactivity disorder and cognitive function in duchenne muscular dystrophy: Phenotype-genotype correlation

Pane, M., Lombardo, M. E., Alfieri, P., D'Amico, A., Bianco, F., Vasco, G., Piccini, G., Mallardi, M., Romeo, D. M., Ricotti, V., Ferlini, A., Gualandi, F., Vicari, S., Bertini, E., Berardinelli, A. & Mercuri, E., Oct 2012, In : Journal of Pediatrics. 161, 4

Research output: Contribution to journalArticle

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: A clinical, biochemical and genetic study

Ciccolella, M., Catteruccia, M., Benedetti, S., Moroni, I., Uziel, G., Pantaleoni, C., Chiapparini, L., Bizzi, A., D'Amico, A., Fattori, F., Salsano, M. L., Pastore, A., Tozzi, G., Piemonte, F. & Bertini, E., Dec 2012, In : Neuromuscular Disorders. 22, 12, p. 1075-1082 8 p.

Research output: Contribution to journalArticle

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy

Bello, L., Melacini, P., Pezzani, R., D'Amico, A., Piva, L., Leonardi, E., Torella, A., Soraru, G., Palmieri, A., Smaniotto, G., Gavassini, B. F., Vianello, A., Nigro, V., Bertini, E., Angelini, C., Tosatto, S. C. E. & Pegoraro, E., Dec 2012, In : European Journal of Human Genetics. 20, 12, p. 1234-1239 6 p.

Research output: Contribution to journalArticle

Exon 45 skipping through U1-snRNA antisense molecules recovers the Dys-nNOS pathway and muscle differentiation in human DMD myoblasts

Cazzella, V., Martone, J., Pinnarò, C., Santini, T., Twayana, S. S., Sthandier, O., D'amico, A., Ricotti, V., Bertini, E., Muntoni, F. & Bozzoni, I., Nov 2012, In : Molecular Therapy. 20, 11, p. 2134-2142 9 p.

Research output: Contribution to journalArticle

Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: A case report

D'Amico, A., Bertini, E., Bianco, F., Papacci, P., Jacobson, L., Vincent, A. & Mercuri, E., Jun 2012, In : Neuromuscular Disorders. 22, 6, p. 546-548 3 p.

Research output: Contribution to journalArticle

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

Brioschi, S., Gualandi, F., Scotton, C., Armaroli, A., Bovolenta, M., Falzarano, M. S., Sabatelli, P., Selvatici, R., D'Amico, A., Pane, M., Ricci, G., Siciliano, G., Tedeschi, S., Pini, A., Vercelli, L., De Grandis, D., Mercuri, E., Bertini, E., Merlini, L., Mongini, T. & 1 others, Ferlini, A., Aug 16 2012, In : BMC Medical Genetics. 13, 73.

Research output: Contribution to journalArticle

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

Bello, L., Piva, L., Barp, A., Taglia, A., Picillo, E., Vasco, G., Pane, M., Previtali, S. C., Torrente, Y., Gazzerro, E., Motta, M. C., Grieco, G. S., Napolitano, S., Magri, F., D'Amico, A., Astrea, G., Messina, S., Sframeli, M., Vita, G. L., Boffi, P. & 17 others, Mongini, T., Ferlini, A., Gualandi, F., Soraru, G., Ermani, M., Vita, G., Battini, R., Bertini, E., Comi, G. P., Berardinelli, A., Minetti, C., Bruno, C., Mercuri, E., Politano, L., Angelini, C., Hoffman, E. P. & Pegoraro, E., Jul 10 2012, In : Neurology. 79, 2, p. 159-162 4 p.

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

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

Pane, M., Messina, S., Vasco, G., Foley, A. R., Morandi, L., Pegoraro, E., Mongini, T., D'Amico, A., Bianco, F., Lombardo, M. E., Scalise, R., Bruno, C., Berardinelli, A., Pini, A., Moroni, I., Mora, M., Toscano, A., Moggio, M., Comi, G., Santorelli, F. M. & 3 others, Bertini, E., Muntoni, F. & Mercuri, E., Aug 2012, In : Neuromuscular Disorders. 22, 8, p. 685-689 5 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

A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features

Di Rosa, G., Messina, S., D'Amico, A., Bertini, E., Pustorino, G., Spanò, M. & Tortorella, G., Sep 2011, In : Epileptic Disorders. 13, 3, p. 259-262 4 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

Functional changes in Duchenne muscular dystrophy

Mazzone, E., Vasco, G., Sormani, M. P., Torrente, Y., Berardinelli, A., Messina, S., D'Amico, A., Doglio, L., Politano, L., Cavallaro, F., Frosini, S., Bello, L., Bonfiglio, S., Zucchini, E., De Sanctis, R., Scutifero, M., Bianco, F., Rossi, F., Motta, M. C., Sacco, A. & 15 others, Donati, M. A., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Pane, M., Gasperini, S., Previtali, S., Napolitano, S., Martinelli, D., Bruno, C., Vita, G., Comi, G., Bertini, E. & Mercuri, E., Jul 19 2011, In : Neurology. 77, 3, p. 250-256 7 p.

Research output: Contribution to journalArticle

GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings

Caciotti, A., Garman, S. C., Rivera-Colón, Y., Procopio, E., Catarzi, S., Ferri, L., Guido, C., Martelli, P., Parini, R., Antuzzi, D., Battini, R., Sibilio, M., Simonati, A., Fontana, E., Salviati, A., Akinci, G., Cereda, C., Dionisi-Vici, C., Deodato, F., d'Amico, A. & 12 others, d'Azzo, A., Bertini, E., Filocamo, M., Scarpa, M., di Rocco, M., Tifft, C. J., Ciani, F., Gasperini, S., Pasquini, E., Guerrini, R., Donati, M. A. & Morrone, A., Jul 2011, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1812, 7, p. 782-790 9 p.

Research output: Contribution to journalArticle

Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita

Modoni, A., D'Amico, A., Dallapiccola, B., Mereu, M. L., Merlini, L., Pagliarani, S., Pisaneschi, E., Silvestri, G., Torrente, I., Valente, E. M. & Lo Monaco, M., Feb 2011, In : Journal of Clinical Neurophysiology. 28, 1, p. 39-44 6 p.

Research output: Contribution to journalArticle

miRNAs as serum biomarkers for Duchenne muscular dystrophy

Cacchiarelli, D., Legnini, I., Martone, J., Cazzella, V., D'Amico, A., Bertini, E. & Bozzoni, I., May 2011, In : EMBO Molecular Medicine. 3, 5, p. 258-265 8 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

Spinal muscular atrophy

D'Amico, A., Mercuri, E., Tiziano, F. D. & Bertini, E., 2011, In : Orphanet Journal of Rare Diseases. 6, 1, 71.

Research output: Contribution to journalArticle

2010

Congenital muscular dystrophies with cognitive impairment: A population study

Messina, S., Bruno, C., Moroni, I., Pegoraro, E., D'Amico, A., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D., Farina, L., Minetti, C., Moggio, M., Mongini, T., Mottarelli, E., Pane, M., Pantaleoni, C., Pichiecchio, A., Pini, A., Ricci, E., Saredi, S. & 10 others, Sframeli, M., Tortorella, G., Toscano, A., Trevisan, C. P., Uggetti, C., Vasco, G., Comi, G. P., Santorelli, F. M., Bertini, E. & Mercuri, E., Sep 7 2010, In : Neurology. 75, 10, p. 898-903 6 p.

Research output: Contribution to journalArticle

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

Odgerel, Z., Sarkozy, A., Lee, H. S., McKenna, C., Rankin, J., Straub, V., Lochmüller, H., Paola, F., D'Amico, A., Bertini, E., Bushby, K. & Goldfarb, L. G., Jul 2010, In : Neuromuscular Disorders. 20, 7, p. 438-442 5 p.

Research output: Contribution to journalArticle

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

Mazzone, E., Martinelli, D., Berardinelli, A., Messina, S., D'Amico, A., Vasco, G., Main, M., Doglio, L., Politano, L., Cavallaro, F., Frosini, S., Bello, L., Carlesi, A., Bonetti, A. M., Zucchini, E., Sanctis, R. D., Scutifero, M., Bianco, F., Rossi, F., Motta, M. C. & 13 others, Sacco, A., Donati, M. A., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Pane, M., Pasquini, E., Bruno, C., Vita, G., Waure, C. D., Bertini, E. & Mercuri, E., Nov 2010, In : Neuromuscular Disorders. 20, 11, p. 712-716 5 p.

Research output: Contribution to journalArticle

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Iannicelli, M., Brancati, F., Mougou-Zerelli, S., Mazzotta, A., Thomas, S., Elkhartoufi, N., Travaglini, L., Gomes, C., Ardissino, G. L., Bertini, E., Boltshauser, E., Castorina, P., D'Arrigo, S., Fischetto, R., Leroy, B., Loget, P., Bonnière, M., Starck, L., Tantau, J., Gentilin, B. & 205 others, Majore, S., Swistun, D., Flori, E., Lalatta, F., Pantaleoni, C., Penzien, J., Grammatico, P., Dallapiccola, B., Gleeson, J. G., Attie-Bitach, T., Valente, E. M., Ali Pacha, L., Tazir, M., Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Loncarevic, D., Mejaski-Bosnjak, V., Petkovic, D., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Lemke, J., Dacou-Voutetakis, C., Kitsiou Tzeli, S., Pons, R., Sztriha, L., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Di Giacomo, M., Gentile, M., Guanti, G., D'Addato, O., Papadia, F., Spano, M., Bernardi, F., Seri, M., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Izzi, C., Pinelli, L., Boccone, L., Guanciali, P., Romoli, R., Bigoni, S., Ferlini, A., Andreucci, E., Donati, M. A., Genuardi, M., Caridi, G., Divizia, M. T., Faravelli, F., Ghiggeri, G., Pessagno, A., Amorini, M., Briguglio, M., Briuglia, S., Rigoli, L., Salpietro, C., Tortorella, G., Adami, A., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Coppola, G., Del Giudice, E., Vitiello, G., Laverda, A. M., Ludwig, K., Permunian, A., Suppiej, A., Macaluso, C., Signorini, S., Uggetti, C., Battini, R., Di Giacomo, M., Priolo, M., Cilio, M. R., D'Amico, A., Di Sabato, M. L., Emma, F., Leuzzi, V., Parisi, P., Stringini, G., Zanni, G., Pollazzon, M., Renieri, A., Vascotto, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A. A., Bastaki, L., Mégarbané, A., Matuleviciene, A., Sabolic Avramovska, V., Said, E., De Jong, M. M., Prescott, T., Stromme, P., Von Der Lippe, C., Koul, R., Rajab, A., Azam, M., Barbot, C., Jocic-Jakubi, B., Gener Querol, B., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I., Strozzi, S., Fluss, J., Teber M, S., Topcu, N. V., Anlar, B., Comu, S., Karaca, E., Kayserili, H., Yüksel, A., Akgul, M., Akcakus, M., Al Gazali, L., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Sheridan, E., Barnicoat, A., Carr, L., Hennekam, R., Lees, M., McKay, F., Yates, L., Blair, E., Bernes, S., Sanchez, H., Clark, A. E., DeMarco, E., Donahue, C., Sherr, E., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Walsh, C. A., McKanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J. & Viskochil, D., May 2010, In : Human Mutation. 31, 5

Research output: Contribution to journalArticle

Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: Relevance for clinical trial design

Tiziano, F. D., Lomastro, R., Pinto, A. M., Messina, S., D'Amico, A., Fiori, S., Angelozzi, C., Pane, M., Mercuri, E., Bertini, E., Neri, G. & Brahe, C., Dec 2010, In : Journal of Medical Genetics. 47, 12, p. 856-858 3 p.

Research output: Contribution to journalArticle

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

Tiziano, F. D., Pinto, A. M., Fiori, S., Lomastro, R., Messina, S., Bruno, C., Pini, A., Pane, M., D'Amico, A., Ghezzo, A., Bertini, E., Mercuri, E., Neri, G. & Brahe, C., Jan 2010, In : European Journal of Human Genetics. 18, 1, p. 52-58 7 p.

Research output: Contribution to journalArticle

2009

Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study

Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D'Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D., Laverda, A., Moggio, M., Morandi, L., Moroni, I., Pane, M., Pezzani, R., Pichiecchio, A., Pini, A. & 15 others, Minetti, C., Mongini, T., Mottarelli, E., Ricci, E., Ruggieri, A., Saredi, S., Scuderi, C., Tessa, A., Toscano, A., Tortorella, G., Trevisan, C. P., Uggetti, C., Vasco, G., Santorelli, F. M. & Bertini, E., May 26 2009, In : Neurology. 72, 21, p. 1802-1809 8 p.

Research output: Contribution to journalArticle

Congenital muscular dystrophy with defective α-dystroglycan, cerebellar hypoplasia, and epilepsy

Messina, S., Tortorella, G., Concolino, D., Spanò, M., D'Amico, A., Bruno, C., Santorelli, F. M., Mercuri, E. & Bertini, E., Nov 2009, In : Neurology. 73, 19, p. 1599-1601 3 p.

Research output: Contribution to journalArticle

Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy

Martoni, E., Urciuolo, A., Sabatelli, P., Fabris, M., Bovolenta, M., Neri, M., Grumati, P., D'Amico, A., Pane, M., Mercuri, E., Bertini, E., Merlini, L., Bonaldo, P., Ferlini, A. & Gualandi, F., May 2009, In : Human Mutation. 30, 5

Research output: Contribution to journalArticle

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian Patients: Identification and structural modeling of novel mutations

Fancello, T., Dardis, A., Rosano, C., Tarugi, P., Tappino, B., Zampieri, S., Pinotti, E., Corsolini, F., Fecarotta, S., D'Amico, A., Di Rocco, M., Uziel, G., Calandra, S., Bembi, B. & Filocamo, M., Jul 2009, In : Neurogenetics. 10, 3, p. 229-239 11 p.

Research output: Contribution to journalArticle

Reliability of the North Star Ambulatory Assessment in a multicentric setting

Mazzone, E. S., Messina, S., Vasco, G., Main, M., Eagle, M., D'Amico, A., Doglio, L., Politano, L., Cavallaro, F., Frosini, S., Bello, L., Magri, F., Corlatti, A., Zucchini, E., Brancalion, B., Rossi, F., Ferretti, M., Motta, M. G., Cecio, M. R., Berardinelli, A. & 16 others, Alfieri, P., Mongini, T., Pini, A., Astrea, G., Battini, R., Comi, G., Pegoraro, E., Morandi, L., Pane, M., Angelini, C., Bruno, C., Villanova, M., Vita, G., Donati, M. A., Bertini, E. & Mercuri, E., Jul 2009, In : Neuromuscular Disorders. 19, 7, p. 458-461 4 p.

Research output: Contribution to journalArticle

2008

Clinical and genetic characterization of Chanarin-Dorfman syndrome

Bruno, C., Bertini, E., Di Rocco, M., Cassandrini, D., Ruffa, G., De Toni, T., Seri, M., Spada, M., Li Volti, G., D'Amico, A., Trucco, F., Arca, M., Casali, C., Angelini, C., DiMauro, S. & Minetti, C., May 16 2008, In : Biochemical and Biophysical Research Communications. 369, 4, p. 1125-1128 4 p.

Research output: Contribution to journalArticle

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

Mihaylova, V., Müller, J. S., Vilchez, J. J., Salih, M. A., Kabiraj, M. M., D'Amico, A., Bertini, E., Wölfle, J., Schreiner, F., Kurlemann, G., Rasic, V. M., Siskova, D., Colomer, J., Herczegfalvi, A., Fabriciova, K., Weschke, B., Scola, R., Hoellen, F., Schara, U., Abicht, A. & 1 others, Lochmüller, H., Mar 2008, In : Brain. 131, 3, p. 747-759 13 p.

Research output: Contribution to journalArticle

Clinical factors as predictors of survival in spinal muscular atrophy type I

D'Amico, A., Cuttini, M., Ravà, L., Mercuri, E., Messina, S., Pane, M., Mastella, C., Chiarini-Testa, M. B., Brahe, C., Tiziano, D., Vita, G. & Bertini, E., Oct 2008, In : Paediatrics and Child Health. 18, SUPPL. 1

Research output: Contribution to journalArticle

Congenital myopathies

D'Amico, A. & Bertini, E., Jan 2008, In : Current Neurology and Neuroscience Reports. 8, 1, p. 73-79 7 p.

Research output: Contribution to journalArticle

Daily salbutamol in young patients with SMA type II

Pane, M., Staccioli, S., Messina, S., D'Amico, A., Pelliccioni, M., Mazzone, E. S., Cuttini, M., Alfieri, P., Battini, R., Main, M., Muntoni, F., Bertini, E., Villanova, M. & Mercuri, E., Jul 2008, In : Neuromuscular Disorders. 18, 7, p. 536-540 5 p.

Research output: Contribution to journalArticle

De novo LMNA mutations cause a new form of congenital muscular dystrophy

Quijano-Roy, S., Mbieleu, B., Bönnemann, C. G., Jeannet, P. Y., Colomer, J., Clarke, N. F., Cuisset, J. M., Roper, H., De Meirleir, L., D'Amico, A., Yaou, R. B., Nascimento, A., Barois, A., Demay, L., Bertini, E., Ferreiro, A., Sewry, C. A., Romero, N. B., Ryan, M., Muntoni, F. & 4 others, Guicheney, P., Richard, P., Bonne, G. & Estournet, B., Aug 2008, In : Annals of Neurology. 64, 2, p. 177-186 10 p.

Research output: Contribution to journalArticle

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.

Pittis, M. G., Donnarumma, M., Montalvo, A. L., Dominissini, S., Kroos, M., Rosano, C., Stroppiano, M., Bianco, M. G., Donati, M. A., Parenti, G., D'Amico, A., Ciana, G., Di Rocco, M., Reuser, A., Bembi, B. & Filocamo, M., Jun 2008, In : Human Mutation. 29, 6

Research output: Contribution to journalArticle

POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study

Messina, S., Mora, M., Pegoraro, E., Pini, A., Mongini, T., D'Amico, A., Pane, M., Aiello, C., Bruno, C., Biancheri, R., Berardinelli, A., Boito, C., Farina, L., Morandi, L., Moroni, I., Pezzani, R., Pichiecchio, A., Ricci, E., Ruggieri, A., Saredi, S. & 9 others, Scuderi, C., Tessa, A., Toscano, A., Tortorella, G., Trevisan, C. P., Uggetti, C., Santorelli, F. M., Bertini, E. & Mercuri, E., Jul 2008, In : Neuromuscular Disorders. 18, 7, p. 565-571 7 p.

Research output: Contribution to journalArticle

Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease

Traverso, M., Bruno, C., Broccolini, A., Sotgia, F., Donati, M. A., Assereto, S., Gazzerro, E., Lo Monaco, M., Modoni, A., D'Amico, A., Gasperini, S., Ricci, E., Zara, F., Lisanti, M. & Minetti, C., Jun 2008, In : Journal of Neurology, Neurosurgery and Psychiatry. 79, 6, p. 735-737 3 p.

Research output: Contribution to journalArticle

2007

Gene expression profiling in the early phases of DMD: A constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

Pescatori, M., Broccolini, A., Minetti, C., Bertini, E., Bruno, C., D'Amico, A., Bernardini, C., Mirabella, M., Silvestri, G., Giglio, V., Modoni, A., Pedemonte, M., Tasca, G., Galluzzi, G., Mercuri, E., Tonali, P. A. & Ricci, E., Apr 2007, In : FASEB Journal. 21, 4, p. 1210-1226 17 p.

Research output: Contribution to journalArticle

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

Zhou, H., Jungbluth, H., Sewry, C. A., Feng, L., Bertini, E., Bushby, K., Straub, V., Roper, H., Rose, M. R., Brockington, M., Kinali, M., Manzur, A., Robb, S., Appleton, R., Messina, S., D'Amico, A., Quinlivan, R., Swash, M., Müller, C. R., Brown, S. & 2 others, Treves, S. & Muntoni, F., Aug 2007, In : Brain. 130, 8, p. 2024-2036 13 p.

Research output: Contribution to journalArticle

Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia

Danhaive, O., Lozzi, S., D'amico, A., Devito, R., Boldrini, R., Corchia, C., Bagolan, P. & Bertini, E., Jul 2007, In : Journal of Pediatric Surgery. 42, 7

Research output: Contribution to journalArticle

Phenotypic clustering of lamin A/C mutations in neuromuscular patients

Benedetti, S., Menditto, I., Degano, M., Rodolico, C., Merlini, L., D'Amico, A., Palmucci, L., Berardinelli, A., Pegoraro, E., Trevisan, C. P., Morandi, L., Moroni, I., Galluzzi, G., Bertini, E., Toscano, A., Olivè, M., Bonne, G., Mari, F., Caldara, R., Fazio, R. & 7 others, Mammì, I., Carrera, P., Toniolo, D., Comi, G., Quattrini, A., Ferrari, M. & Previtali, S. C., Sep 2007, In : Neurology. 69, 12, p. 1285-1292 8 p.

Research output: Contribution to journalArticle

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

Mercuri, E., Bertini, E., Messina, S., Solari, A., D'Amico, A., Angelozzi, C., Battini, R., Berardinelli, A., Boffi, P., Bruno, C., Cini, C., Colitto, F., Kinali, M., Minetti, C., Mongini, T., Morandi, L., Neri, G., Orcesi, S., Pane, M., Pelliccioni, M. & 5 others, Pini, A., Tiziano, F. D., Villanova, M., Vita, G. & Brahe, C., Jan 2007, In : Neurology. 68, 1, p. 51-55 5 p.

Research output: Contribution to journalArticle

The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study

Tiziano, F. D., Bertini, E., Messina, S., Angelozzi, C., Pane, M., D'Amico, A., Alfieri, P., Fiori, S., Battini, R., Berardinelli, A., Boffi, P., Bruno, C., Cini, C., Minetti, C., Mongini, T., Morandi, L., Orcesi, S., Pelliccioni, M., Pini, A., Villanova, M. & 4 others, Vita, G., Locatelli, M., Mercuri, E. & Brahe, C., May 2007, In : Neuromuscular Disorders. 17, 5, p. 400-403 4 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