1978 …2020

Research output per year

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Research Output

2012

Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR

Terracciano, A., Specchio, N., Darra, F., Sferra, A., Dalla Bernardina, B., Vigevano, F. & Bertini, E., Nov 2012, In : Neurogenetics. 13, 4, p. 341-345 5 p.

Research output: Contribution to journalArticle

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: Confirmation of a recognizable phenotype and first description of a male mosaic patient

Burglen, L., Chantot-Bastaraud, S., Garel, C., Milh, M., Touraine, R., Zanni, G., Petit, F., Afenjar, A., Goizet, C., Barresi, S., Coussement, A., Ioos, C., Lazaro, L., Joriot, S., Desguerre, I., Lacombe, D., Des Portes, V., Bertini, E., Siffroi, J. P., Billette De Villemeur, T. & 1 others, Rodriguez, D., 2012, In : Orphanet Journal of Rare Diseases. 7, 1, 18.

Research output: Contribution to journalArticle

Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1

Zhou, J., Tawk, M., Tiziano, F. D., Veillet, J., Bayes, M., Nolent, F., Garcia, V., Servidei, S., Bertini, E., Castro-Giner, F., Renda, Y., Carpentier, S., Andrieu-Abadie, N., Gut, I., Levade, T., Topaloglu, H. & Melki, J., Jul 13 2012, In : American Journal of Human Genetics. 91, 1, p. 5-14 10 p.

Research output: Contribution to journalArticle

Stem cells in severe infantile spinal muscular atrophy

Mercuri, E. & Bertini, E., Dec 2012, In : Neuromuscular Disorders. 22, 12, p. 1105 1 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

TMEM70: A mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex v biogenesis

Torraco, A., Verrigni, D., Rizza, T., Meschini, M. C., Vazquez-Memije, M. E., Martinelli, D., Bianchi, M., Piemonte, F., Dionisi-Vici, C., Santorelli, F. M., Bertini, E. & Carrozzo, R., Nov 2012, In : Neurogenetics. 13, 4, p. 375-386 12 p.

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

Assessing upper limb function in nonambulant SMA patients: Development of a new module

Mazzone, E., Bianco, F., Martinelli, D., Glanzman, A. M., Messina, S., Sanctis, R. D., Main, M., Eagle, M., Florence, J., Krosschell, K., Vasco, G., Pelliccioni, M., Lombardo, M., Pane, M., Finkel, R., Muntoni, F., Bertini, E. & Mercuri, E., Jun 2011, In : Neuromuscular Disorders. 21, 6, p. 406-412 7 p.

Research output: Contribution to journalArticle

Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene

El-Hafidi, M., Meschini, M. C., Rizza, T., Santorelli, F. M., Bertini, E., Carrozzo, R. & Vázquez-Memije, M. E., Dec 2011, In : Journal of Bioenergetics and Biomembranes. 43, 6, p. 683-690 8 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

Cyclosporine a in Ullrich congenital muscular dystrophy: Long-term results

Merlini, L., Sabatelli, P., Armaroli, A., Gnudi, S., Angelin, A., Grumati, P., Michelini, M. E., Franchella, A., Gualandi, F., Bertini, E., Maraldi, N. M., Ferlini, A., Bonaldo, P. & Bernardi, P., 2011, In : Oxidative Medicine and Cellular Longevity. 139194.

Research output: Contribution to journalArticle

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

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

Unger, S., Lausch, E., Stanzial, F., Gillessen-Kaesbach, G., Stefanova, I., di Stefano, C. M., Bertini, E., Dionisi-Vici, C., Nilius, B., Zabel, B. & Superti-Furga, A., Nov 2011, In : American Journal of Medical Genetics, Part A. 155, 11, p. 2860-2864 5 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

Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family

Pirozzi, F., Di Raimo, F. R., Zanni, G., Bertini, E., Billuart, P., Tartaglione, T., Tabolacci, E., Brancaccio, A., Neri, G. & Chiurazzi, P., Nov 2011, In : Human Mutation. 32, 11

Research output: Contribution to journalArticle

Laminopathies: Many diseases, one gene. Report of the first Italian meeting course on laminopathies

Lattanzi, G., Benedetti, S., Bertini, E., Boriani, G., Mazzanti, L., Novelli, G., Pasquali, R., Pini, A. & Politano, L., Oct 2011, In : Acta Myologica. 30, OCTOBER, p. 138-143 6 p.

Research output: Contribution to journalArticle

Mechanisms inducing low bone density in duchenne muscular dystrophy in mice and humans

Rufo, A., Del Fattore, A., Capulli, M., Carvello, F., De Pasquale, L., Ferrari, S., Pierroz, D., Morandi, L., De Simone, M., Rucci, N., Bertini, E., Bianchi, M. L., De Benedetti, F. & Teti, A., Aug 2011, In : Journal of Bone and Mineral Research. 26, 8, p. 1891-1903 13 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

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

Grossi, S., Regis, S., Biancheri, R., Mort, M., Lualdi, S., Bertini, E., Uziel, G., Boespflug-Tanguy, O., Simonati, A., Corsolini, F., Demir, E., Marchiani, V., Percesepe, A., Stanzial, F., Rossi, A., Vaurs-Barrière, C., Cooper, D. N. & Filocamo, M., 2011, In : Orphanet Journal of Rare Diseases. 6, 1, 40.

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

Motor chip: A comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders

Piluso, G., Dionisi, M., Blanco, F. D. V., Torella, A., Aurino, S., Savarese, M., Giugliano, T., Bertini, E., Terracciano, A., Vainzof, M., Criscuolo, C., Politano, L., Casali, C., Santorelli, F. M. & Nigro, V., Nov 2011, In : Clinical Chemistry. 57, 11, p. 1584-1596 13 p.

Research output: Contribution to journalArticle

Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay

Vingolo, E. M., di Fabio, R., Salvatore, S., Grieco, G., Bertini, E., Leuzzi, V., Nesti, C., Filla, A., Tessa, A., Pierelli, F., Santorelli, F. M. & Casali, C., Sep 2011, In : European Journal of Neurology. 18, 9, p. 1187-1190 4 p.

Research output: Contribution to journalArticle

Progressive cavitating leukoencephalopathy associated with respiratory chain complex i deficiency and a novel mutation in NDUFS1

Ferreira, M., Torraco, A., Rizza, T., Fattori, F., Meschini, M. C., Castana, C., Go, N. E., Nargang, F. E., Duarte, M., Piemonte, F., Dionisi-Vici, C., Videira, A., Vilarinho, L., Santorelli, F. M., Carrozzo, R. & Bertini, E., Feb 2011, In : Neurogenetics. 12, 1, p. 9-17 9 p.

Research output: Contribution to journalArticle

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations

Specchio, N., Marini, C., Terracciano, A., Mei, D., Trivisano, M., Sicca, F., Fusco, L., Cusmai, R., Darra, F., Bernardina, B. D., Bertini, E., Guerrini, R. & Vigevano, F., Jul 2011, In : Epilepsia. 52, 7, p. 1251-1257 7 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

X-linked disorders with cerebellar dysgenesis

Zanni, G. & Bertini, E. S., 2011, In : Orphanet Journal of Rare Diseases. 6, 1, 24.

Research output: Contribution to journalArticle

2010

A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H

Bisceglia, L., Zoccolella, S., Torraco, A., Piemontese, M. R., Dell'Aglio, R., Amati, A., De Bonis, P., Artuso, L., Copetti, M., Santorelli, F. M., Serlenga, L., Zelante, L., Bertini, E. & Petruzzella, V., Jun 2010, In : European Journal of Human Genetics. 18, 6, p. 636-641 6 p.

Research output: Contribution to journalArticle

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

Consensus statement on standard of care for congenital muscular dystrophies

Wang, C. H., Bonnemann, C. G., Rutkowski, A., Sejersen, T., Bellini, J., Battista, V., Florence, J. M., Schara, U., Schuler, P. M., Wahbi, K., Aloysius, A., Bash, R. O., Béroud, C., Bertini, E., Bushby, K., Cohn, R. D., Connolly, A. M., Deconinck, N., Desguerre, I., Eagle, M. & 20 others, Estournet-Mathiaud, B., Ferreiro, A., Fujak, A., Goemans, N., Iannaccone, S. T., Jouinot, P., Main, M., Melacini, P., Mueller-Felber, W., Muntoni, F., Nelson, L. L., Rahbek, J., Quijano-Roy, S., Sewry, C., Storhaug, K., Simonds, A., Tseng, B., Vajsar, J., Vianello, A. & Zeller, R., Dec 2010, In : Journal of Child Neurology. 25, 12, p. 1559-1581 23 p.

Research output: Contribution to journalArticle

GPR56-related bilateral frontoparietal polymicrogyria: Further evidence for an overlap with the cobblestone complex

Bahi-Buisson, N., Poirier, K., Boddaert, N., Fallet-Bianco, C., Specchio, N., Bertini, E., Caglayan, O., Lascelles, K., Elie, C., Rambaud, J., Baulac, M., An, I., Dias, P., Des Portes, V., Moutard, M. L., Soufflet, C., El Maleh, M., Beldjord, C., Villard, L. & Chelly, J., Nov 2010, In : Brain. 133, 11, p. 3194-3209 16 p.

Research output: Contribution to journalArticle

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

Bovolenta, M., Neri, M., Martoni, E., Urciuolo, A., Sabatelli, P., Fabris, M., Grumati, P., Mercuri, E., Bertini, E., Merlini, L., Bonaldo, P., Ferlini, A. & Gualandi, F., Mar 19 2010, In : BMC Medical Genetics. 11, 1, 44.

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

Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studies

Cassandrini, D., Biancheri, R., Tessa, A., Di Rocco, M., Di Capua, M., Bruno, C., Denora, P. S., Sartori, S., Rossi, A., Nozza, P., Emma, F., Mezzano, P., Politi, M. R., Laverda, A. M., Zara, F., Pavone, L., Simonati, A., Leuzzi, V., Santorelli, F. M. & Bertini, E., Oct 19 2010, In : Neurology. 75, 16, p. 1459-1464 6 p.

Research output: Contribution to journalArticle

RYR1 mutations are a common cause of congenital myopathies with central nuclei

Wilmshurst, J. M., Lillis, S., Zhou, H., Pillay, K., Henderson, H., Kress, W., Müller, C. R., Ndondo, A., Cloke, V., Cullup, T., Bertini, E., Boennemann, C., Straub, V., Quinlivan, R., Dowling, J. J., Al-Sarraj, S., Treves, S., Abbs, S., Manzur, A. Y., Sewry, C. A. & 2 others, Muntoni, F. & Jungbluth, H., Nov 2010, In : Annals of Neurology. 68, 5, p. 717-726 10 p.

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

Skin and hair disorders

Dionisi-Vici, C., Hachem, M. E. & Bertini, E., 2010, Inherited Metabolic Diseases: A Clinical Approach. Springer Berlin Heidelberg, p. 197-217 21 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

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

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

The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability

Glanzman, A. M., Mazzone, E., Main, M., Pelliccioni, M., Wood, J., Swoboda, K. J., Scott, C., Pane, M., Messina, S., Bertini, E., Mercuri, E. & Finkel, R. S., Mar 2010, In : Neuromuscular Disorders. 20, 3, p. 155-161 7 p.

Research output: Contribution to journalArticle

2009

Approccio multidisciplinare

Translated title of the contribution: Multidisciplinary approachBartuli, A., Bertini, E., Callea, F., Cappa, M., Caviglia, S., D'Argenio, P., De Benedetti, F., Digilio, M. C., Dionisi Vici, C., El Hachem, M., Emma, F., Nobili, V., Pagnotta, G. & Vignati, E., Dec 2009, In : Minerva Pediatrica. 61, 6, p. 689-691 3 p.

Research output: Contribution to journalArticle