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2020

Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients

Capitanio, D., Moriggi, M., Torretta, E., Barbacini, P., De Palma, S., Viganò, A., Lochmüller, H., Muntoni, F., Ferlini, A., Mora, M. & Gelfi, C., Jan 1 2020, (Accepted/In press) In : Journal of Cachexia, Sarcopenia and Muscle.

Research output: Contribution to journalArticle

Open Access

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Neri, M., Rossi, R., Trabanelli, C., Mauro, A., Selvatici, R., Falzarano, M. S., Spedicato, N., Margutti, A., Rimessi, P., Fortunato, F., Fabris, M., Gualandi, F., Comi, G., Tedeschi, S., Seia, M., Fiorillo, C., Traverso, M., Bruno, C., Giardina, E., Piemontese, M. R. & 35 others, Merla, G., Cau, M., Marica, M., Scuderi, C., Borgione, E., Tessa, A., Astrea, G., Santorelli, F. M., Merlini, L., Mora, M., Bernasconi, P., Gibertini, S., Sansone, V., Mongini, T., Berardinelli, A., Pini, A., Liguori, R., Filosto, M., Messina, S., Vita, G., Toscano, A., Vita, G., Pane, M., Servidei, S., Pegoraro, E., Bello, L., Travaglini, L., Bertini, E., D'Amico, A., Ergoli, M., Politano, L., Torella, A., Nigro, V., Mercuri, E. & Ferlini, A., 2020, In : Frontiers in Genetics. 11, p. 131

Research output: Contribution to journalArticle

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Carmela Scuderi, 2020, In : Frontiers in Genetics. 11

Research output: Contribution to journalArticle

Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy

Galimberti, V., Tironi, R., Lerario, A., Scali, M., Del Bo, R., Rodolico, C., Brizzi, T., Gibertini, S., Maggi, L., Mora, M., Toscano, A., Comi, G. P., Sciacco, M., Moggio, M. & Peverelli, L., 2020, In : European Journal of Neurology. 27, 4, p. 709-715

Research output: Contribution to journalArticle

2019

Expanding the central nervous system disease spectrum associated with FLNC mutation

Previtali, S. C., Scarlato, M., Vezzulli, P., Ruggieri, A., Velardo, D., Benedetti, S., Torini, G., Colombo, B., Maggi, L., Di Bella, D., Gellera, C., D'Angelo, G. & Mora, M., Jan 1 2019, In : Muscle and Nerve. 59, 5, p. E33-E37 5 p.

Research output: Contribution to journalArticle

2018

Botulinum toxin type A affects the transcriptome of cell cultures derived from muscle biopsies of controls and spastic patients

Zanotti, S., Kapetis, D., Gibertini, S., Salerno, F., Ciusani, E., Colombo, C., Gronchi, A., Morandi, L., Mantegazza, R., Molteni, F. & Mora, M., Aug 1 2018, In : Toxicology in Vitro. 50, p. 124-136 13 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., De Bleecker, J., 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., 2018, In : Genes. 9, 11

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., De Bleecker, J., 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., Nov 1 2018, In : Genes. 9, 11, 524.

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

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

Ripolone, M., Violano, R., Ronchi, D., Mondello, S., Nascimbeni, A., Colombo, I., Fagiolari, G., Bordoni, A., Fortunato, F., Lucchini, V., Simona, S., Filosto, M., Musumeci, O., Tonin, P., Mongini, T., Previtali, S., Morandi, L., Angelini, C., Mora, M., Sandri, M. & 4 others, Sciacco, M., Toscano, A., Comi, G. P. & Moggio, M., 2018, In : Neuropathology and Applied Neurobiology. 44, 5, p. 449-462

Research output: Contribution to journalArticle

Exosomes and exosomal miRNAs from muscle-derived fibroblasts promote skeletal muscle fibrosis

Zanotti, S., Gibertini, S., Blasevich, F., Bragato, C., Ruggieri, A., Saredi, S., Fabbri, M., Bernasconi, P., Maggi, L., Mantegazza, R. & Mora, M., 2018, In : Matrix Biology. 74, p. 77-100 24 p.

Research output: Contribution to journalArticle

Exosomes and exosomal miRNAs from muscle-derived fibroblasts promote skeletal muscle fibrosis

Zanotti, S., Gibertini, S., Blasevich, F., Bragato, C., Ruggieri, A., Saredi, S., Fabbri, M., Bernasconi, P., Maggi, L., Mantegazza, R. & Mora, M., Dec 1 2018, In : Matrix Biology. 74, p. 77-100 24 p.

Research output: Contribution to journalArticle

HDAC8 regulates canonical Wnt pathway to promote differentiation in skeletal muscles

Ferrari, L., Bragato, C., Brioschi, L., Spreafico, M., Esposito, S., Pezzotta, A., Pizzetti, F., Moreno-Fortuny, A., Bellipanni, G., Giordano, A., Riva, P., Frabetti, F., Viani, P., Cossu, G., Mora, M., Marozzi, A. & Pistocchi, A., Jan 1 2018, (Accepted/In press) In : Journal of Cellular Physiology.

Research output: Contribution to journalArticle

Interpreting genetic variants in titin in patients with muscle disorders

Savarese, M., Maggi, L., Vihola, A., Jonson, P. H., Tasca, G., Ruggiero, L., Bello, L., Magri, F., Giugliano, T., Torella, A., Evila, A., Di Fruscio, G., Vanakker, O., Gibertini, S., Vercelli, L., Ruggieri, A., Antozzi, C., Luque, H., Janssens, S., Pasanisi, M. B. & 21 others, Fiorillo, C., Raimondi, M., Ergoli, M., Politano, L., Bruno, C., Rubegni, A., Pane, M., Santorelli, F. M., Minetti, C., Angelini, C., De Bleecker, J., Moggio, M., Mongini, T., Comi, G. P., Santoro, L., Mercuri, E., Pegoraro, E., Mora, M., Hackman, P., Udd, B. & Nigro, V., May 1 2018, In : JAMA Neurology. 75, 5, p. 557-565 9 p.

Research output: Contribution to journalArticle

The RD-Connect Registry & Biobank Finder: A tool for sharing aggregated data and metadata among rare disease researchers

Gainotti, S., Torreri, P., Wang, C. M., Reihs, R., Mueller, H., Heslop, E., Roos, M., Badowska, D. M., De Paulis, F., Kodra, Y., Carta, C., Martìn, E. L., Miller, V. R., Filocamo, M., Mora, M., Thompson, M., Rubinstein, Y., Posada De La Paz, M., Monaco, L., Lochmüller, H. & 1 others, Taruscio, D., May 1 2018, In : European Journal of Human Genetics. 26, 5, p. 631-643 13 p.

Research output: Contribution to journalArticle

Zc3h10 is a novel mitochondrial regulator

Audano, M., Pedretti, S., Cermenati, G., Brioschi, E., Diaferia, G. R., Ghisletti, S., Cuomo, A., Bonaldi, T., Salerno, F., Mora, M., Grigore, L., Garlaschelli, K., Baragetti, A., Bonacina, F., Catapano, A. L., Norata, G. D., Crestani, M., Caruso, D., Saez, E., De Fabiani, E. & 1 others, Mitro, N., Apr 1 2018, In : EMBO Reports. 19, 4, e45531.

Research output: Contribution to journalArticle

Zc3h10 is a novel mitochondrial regulator

Audano, M., Pedretti, S., Cermenati, G., Brioschi, E., Diaferia, G. R., Ghisletti, S., Cuomo, A., Bonaldi, T., Salerno, F., Mora, M., Grigore, L., Garlaschelli, K., Baragetti, A., Bonacina, F., Catapano, A. L., Norata, G. D., Crestani, M., Caruso, D., Saez, E., De Fabiani, E. & 1 others, Mitro, N., Apr 1 2018, In : EMBO Reports. 19, 4

Research output: Contribution to journalArticle

Zc3h10 is a novel mitochondrial regulator

Audano, M., Pedretti, S., Cermenati, G., Brioschi, E., Diaferia, G. R., Ghisletti, S., Cuomo, A., Bonaldi, T., Salerno, F., Mora, M., Grigore, L., Garlaschelli, K., Baragetti, A., Bonacina, F., Catapano, A. L., Norata, G. D., Crestani, M., Caruso, D., Saez, E., De Fabiani, E. & 1 others, Mitro, N., 2018, In : EMBO Reports. 19, 4

Research output: Contribution to journalArticle

2017

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

Osborn, D. P. S., Pond, H. L., Mazaheri, N., Dejardin, J., Munn, C. J., Mushref, K., Cauley, E. S., Moroni, I., Pasanisi, M. B., Sellars, E. A., Hill, R. S., Partlow, J. N., Willaert, R. K., Bharj, J., Malamiri, R. A., Galehdari, H., Shariati, G., Maroofian, R., Mora, M., Swan, L. E. & 4 others, Voit, T., Conti, F. J., Jamshidi, Y. & Manzini, M. C., Mar 2 2017, In : American Journal of Human Genetics. 100, 3, p. 537-545 9 p.

Research output: Contribution to journalArticle

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

Böhm, J., Bulla, M., Urquhart, J. E., Malfatti, E., Williams, S. G., O'Sullivan, J., Szlauer, A., Koch, C., Baranello, G., Mora, M., Ripolone, M., Violano, R., Moggio, M., Kingston, H., Dawson, T., DeGoede, C. G., Nixon, J., Boland, A., Deleuze, J. F., Romero, N. & 3 others, Newman, W. G., Demaurex, N. & Laporte, J., Apr 1 2017, In : Human Mutation. 38, 4, p. 426-438 13 p.

Research output: Contribution to journalArticle

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene

Zanolini, A., Potic, A., Carrara, F., Lamantea, E., Diodato, D., Blasevich, F., Marchet, S., Mora, M., Pallotti, F., Morandi, L., Zeviani, M. & Lamperti, C., Mar 1 2017, In : Molecular Genetics and Metabolism Reports. 10, p. 24-27 4 p.

Research output: Contribution to journalArticle

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

Magri, F., Nigro, V., Angelini, C., Mongini, T., Mora, M., Moroni, I., Toscano, A., D'angelo, M. G., Tomelleri, G., Siciliano, G., Ricci, G., Bruno, C., Corti, S., Musumeci, O., Tasca, G., Ricci, E., Monforte, M., Sciacco, M., Fiorillo, C., Gandossini, S. & 13 others, Minetti, C., Morandi, L., Savarese, M., Di Fruscio, G., Semplicini, C., Pegoraro, E., Govoni, A., Brusa, R., Del Bo, R., Ronchi, D., Moggio, M., Bresolin, N. & Comi, G. P., Jan 1 2017, In : Muscle and Nerve. 55, 1, p. 55-68 14 p.

Research output: Contribution to journalArticle

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

Magri, F., Nigro, V., Angelini, C., Mongini, T., Mora, M., Moroni, I., Toscano, A., D'angelo, M. G., Tomelleri, G., Siciliano, G., Ricci, G., Bruno, C., Corti, S., Musumeci, O., Tasca, G., Ricci, E., Monforte, M., Sciacco, M., Fiorillo, C., Gandossini, S. & 13 others, Minetti, C., Morandi, L., Savarese, M., Fruscio, G. D., Semplicini, C., Pegoraro, E., Govoni, A., Brusa, R., Del Bo, R., Ronchi, D., Moggio, M., Bresolin, N. & Comi, G. P., 2017, In : Muscle and Nerve. 55, 1, p. 55-68 14 p.

Research output: Contribution to journalArticle

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

Magri, F., Nigro, V., Angelini, C., Mongini, T., Mora, M., Moroni, I., Toscano, A., D'angelo, M. G., Tomelleri, G., Siciliano, G., Ricci, G., Bruno, C., Corti, S., Musumeci, O., Tasca, G., Ricci, E., Monforte, M., Sciacco, M., Fiorillo, C., Gandossini, S. & 13 others, Minetti, C., Morandi, L., Savarese, M., Fruscio, G. D., Semplicini, C., Pegoraro, E., Govoni, A., Brusa, R., Del Bo, R., Ronchi, D., Moggio, M., Bresolin, N. & Comi, G. P., 2017, In : Muscle and Nerve. 55, 1, p. 55-68 14 p.

Research output: Contribution to journalArticle

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

Magri, F., Nigro, V., Angelini, C., Mongini, T., Mora, M., Moroni, I., Toscano, A., D'angelo, M. G., Tomelleri, G., Siciliano, G., Ricci, G., Bruno, C., Corti, S., Musumeci, O., Tasca, G., Ricci, E., Monforte, M., Sciacco, M., Fiorillo, C., Gandossini, S. & 13 others, Minetti, C., Morandi, L., Savarese, M., Fruscio, G. D., Semplicini, C., Pegoraro, E., Govoni, A., Brusa, R., Del Bo, R., Ronchi, D., Moggio, M., Bresolin, N. & Comi, G. P., 2017, In : Muscle and Nerve. 55, 1, p. 55-68 14 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

A Calsequestrin-1 mutation associated with a skeletal muscle disease alters sarcoplasmic Ca2+ release

D'Adamo, M. C., Sforna, L., Visentin, S., Grottesi, A., Servettini, L., Guglielmi, L., Macchioni, L., Saredi, S., Curcio, M., De Nuccio, C., Hasan, S., Corazzi, L., Franciolini, F., Mora, M., Catacuzzeno, L. & Pessia, M., May 1 2016, In : PLoS One. 11, 5, e0155516.

Research output: Contribution to journalArticle

Anti-fibrotic effect of pirfenidone in muscle derived-fibroblasts from Duchenne muscular dystrophy patients

Zanotti, S., Bragato, C., Zucchella, A., Maggi, L., Mantegazza, R., Morandi, L. & Mora, M., Jan 15 2016, In : Life Sciences. 145, p. 127-136 10 p.

Research output: Contribution to journalArticle

Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: A paradigm to understand and treat ion channelopathies

Imbrici, P., Altamura, C., Camerino, G. M., Mangiatordi, G. F., Conte, E., Maggi, L., Brugnoni, R., Musaraj, K., Caloiero, R., Alberga, D., Marsano, R. M., Ricci, G., Siciliano, G., Nicolotti, O., Mora, M., Bernasconi, P., Desaphy, J. F., Mantegazza, R. & Camerino, D. C., Oct 1 2016, In : FASEB Journal. 30, 10, p. 3285-3295 11 p.

Research output: Contribution to journalArticle

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

Fiorillo, C., Astrea, G., Savarese, M., Cassandrini, D., Brisca, G., Trucco, F., Pedemonte, M., Trovato, R., Ruggiero, L., Vercelli, L., D'Amico, A., Tasca, G., Pane, M., Fanin, M., Bello, L., Broda, P., Musumeci, O., Rodolico, C., Messina, S., Vita, G. L. & 19 others, Sframeli, M., Gibertini, S., Morandi, L., Mora, M., Maggi, L., Petrucci, A., Massa, R., Grandis, M., Toscano, A., Pegoraro, E., Mercuri, E., Bertini, E., Mongini, T., Santoro, L., Nigro, V., Minetti, C., Santorelli, F. M., Bruno, C. & Italian Network on Congenital Myopathies, Jul 7 2016, In : Orphanet Journal of Rare Diseases. 11, 1, p. 91

Research output: Contribution to journalArticle

MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients

Fiorillo, C., Astrea, G., Savarese, M., Cassandrini, D. A., Brisca, G., Trucco, F., Pedemonte, M., Trovato, R., Ruggiero, L., Vercelli, L., D'Amico, A., Tasca, G., Pane, M., Fanin, M., Bello, L., Broda, P., Musumeci, O., Rodolico, C., Messina, S., Vita, G. L. & 18 others, Sframeli, M., Gibertini, S., Morandi, L., Mora, M., Maggi, L., Petrucci, A., Massa, R., Grandis, M., Toscano, A., Pegoraro, E., Mercuri, E., Bertini, E. S., Mongini, T., Santoro, L., Nigro, V., Minetti, C., Santorelli, F. M. & Bruno, C., Jul 7 2016, In : Orphanet Journal of Rare Diseases. 11, 1, 91.

Research output: Contribution to journalArticle

MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients

Fiorillo, C., Astrea, G., Savarese, M., Cassandrini, D. A., Brisca, G., Trucco, F., Pedemonte, M., Trovato, R., Ruggiero, L., Vercelli, L., D'Amico, A., Tasca, G., Pane, M., Fanin, M., Bello, L., Broda, P., Musumeci, O., Rodolico, C., Messina, S., Vita, G. L. & 18 others, Sframeli, M., Gibertini, S., Morandi, L., Mora, M., Maggi, L., Petrucci, A., Massa, R., Grandis, M., Toscano, A., Pegoraro, E., Mercuri, E., Bertini, E. S., Mongini, T., Santoro, L., Nigro, V., Minetti, C., Santorelli, F. M. & Bruno, C., Jul 7 2016, In : Orphanet Journal of Rare Diseases. 11, 1, 91.

Research output: Contribution to journalArticle

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients

Piga, D., Magri, F., Ronchi, D., Corti, S. P., Cassandrini, D. A., Mercuri, E., Tasca, G., Bertini, E. S., Fattori, F., Toscano, A., Messina, S., Moroni, I., Mora, M., Moggio, M. G., Colombo, I., Giugliano, T., Pane, M., Fiorillo, C., D'Amico, A., Bruno, C. & 3 others, Nigro, V., Bresolin, N. & Comi, G. P., Apr 22 2016, (Accepted/In press) In : Journal of Molecular Neuroscience. p. 1-9 9 p.

Research output: Contribution to journalArticle

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients

Piga, D., Magri, F., Ronchi, D., Corti, S., Cassandrini, D., Mercuri, E., Tasca, G., Bertini, E., Fattori, F., Toscano, A., Messina, S., Moroni, I., Mora, M., Moggio, M., Colombo, I., Giugliano, T., Pane, M., Fiorillo, C., D’Amico, A., Bruno, C. & 3 others, Nigro, V., Bresolin, N. & Comi, G. P., 2016, In : Journal of Molecular Neuroscience. 59, 3, p. 351-359 9 p.

Research output: Contribution to journalArticle

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients

Piga, D., Magri, F., Ronchi, D., Corti, S., Cassandrini, D., Mercuri, E., Tasca, G., Bertini, E., Fattori, F., Toscano, A., Messina, S., Moroni, I., Mora, M., Moggio, M., Colombo, I., Giugliano, T., Pane, M., Fiorillo, C., D’Amico, A., Bruno, C. & 3 others, Nigro, V., Bresolin, N. & Comi, G. P., Apr 22 2016, In : Journal of Molecular Neuroscience. p. 1-9 9 p.

Research output: Contribution to journalArticle

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients

Piga, D., Magri, F., Ronchi, D., Corti, S. P., Cassandrini, D. A., Mercuri, E., Tasca, G., Bertini, E. S., Fattori, F., Toscano, A., Messina, S., Moroni, I., Mora, M., Moggio, M. G., Colombo, I., Giugliano, T., Pane, M., Fiorillo, C., D'Amico, A., Bruno, C. & 3 others, Nigro, V., Bresolin, N. & Comi, G. P., Apr 22 2016, (Accepted/In press) In : Journal of Molecular Neuroscience. p. 1-9 9 p.

Research output: Contribution to journalArticle

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

Savarese, M., Musumeci, O., Giugliano, T., Rubegni, A., Fiorillo, C., Fattori, F., Torella, A., Battini, R., Rodolico, C., Pugliese, A., Piluso, G., Maggi, L., D'Amico, A., Bruno, C., Bertini, E. S., Santorelli, F. M., Mora, M., Toscano, A., Minetti, C. & Nigro, V., Apr 1 2016, In : Neuromuscular Disorders. 26, 4-5, p. 292-299 8 p.

Research output: Contribution to journalArticle

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

Savarese, M., Musumeci, O., Giugliano, T., Rubegni, A., Fiorillo, C., Fattori, F., Torella, A., Battini, R., Rodolico, C., Pugliese, A., Piluso, G., Maggi, L., D'Amico, A., Bruno, C., Bertini, E. S., Santorelli, F. M., Mora, M., Toscano, A., Minetti, C. & Nigro, V., Apr 1 2016, In : Neuromuscular Disorders. 26, 4-5, p. 292-299 8 p.

Research output: Contribution to journalArticle

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene

Zanolini, A., Potic, A., Carrara, F., Lamantea, E., Diodato, D., Blasevich, F., Marchet, S., Mora, M., Pallotti, F., Morandi, L., Zeviani, M. & Lamperti, C., Dec 15 2016, In : Molecular Genetics and Metabolism Reports. 10, p. 24-27 4 p.

Research output: Contribution to journalArticle

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

Gang, Q., Bettencourt, C., MacHado, P., Brady, S., Holton, J. L., Pittman, A., Hughes, D., Healy, E., Parton, M., Hilton-Jones, D., Shieh, P. B., Needham, M., Liang, C., Zanoteli, E., de Camargo, L. V., De Paepe, B., De Bleecker, J. L., Shaibani, A., Ripolone, M., Violano, R. & 9 others, Moggio, M., Barohn, R. J., Dimachkie, M. M., Mora, M., Mantegazza, R., Zanotti, S., Singleton, A., Hanna, M. G. & Houlden, H., Mar 17 2016, (Accepted/In press) In : Neurobiology of Aging.

Research output: Contribution to journalArticle

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

Gang, Q., Bettencourt, C., Machado, P. M., Brady, S., Holton, J. L., Pittman, A. M., Hughes, D., Healy, E., Parton, M., Hilton-Jones, D., Shieh, P. B., Needham, M., Liang, C., Zanoteli, E., de Camargo, L. V., De Paepe, B., De Bleecker, J., Shaibani, A., Ripolone, M., Violano, R. & 9 others, Moggio, M. G., Barohn, R. J., Dimachkie, M. M., Mora, M., Mantegazza, R., Zanotti, S., Singleton, A. B., Hanna, M. G. & Houlden, H., 2016, In : Neurobiology of Aging. 47, p. 218.e1–218.e9 9 p.

Research output: Contribution to journalArticle

SEPN1-related myopathy in three patients: novel mutations and diagnostic clues

Ardissone, A., Bragato, C., Blasevich, F., Maccagnano, E., Salerno, F., Gandioli, C., Morandi, L., Mora, M. & Moroni, I., Jan 16 2016, (Accepted/In press) In : European Journal of Pediatrics. p. 1-6 6 p.

Research output: Contribution to journalArticle

Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene

Pasanisi, M. B., Missaglia, S., Cassandrini, D. A., Salerno, F., Farina, S., Andreini, D., Agostoni, P., Morandi, L., Mora, M. & Tavian, D., Mar 15 2016, In : International Journal of Cardiology. 207, p. 165-167 3 p.

Research output: Contribution to journalArticle

Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene

Pasanisi, M. B., Missaglia, S., Cassandrini, D. A., Salerno, F., Farina, S., Andreini, D., Agostoni, P., Morandi, L., Mora, M. & Tavian, D., Mar 15 2016, In : International Journal of Cardiology. 207, p. 165-167 3 p.

Research output: Contribution to journalArticle

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

Baldo, C., Casareto, L., Renieri, A., Merla, G., Garavaglia, B., Goldwurm, S., Pegoraro, E., Moggio, M. G., Mora, M., Politano, L., Sangiorgi, L., Mazzotti, R., Viotti, V., Meloni, I., Pellico, M. T., Barzaghi, C., Wang, C. M., Monaco, L. & Filocamo, M., Oct 24 2016, In : Orphanet Journal of Rare Diseases. 11, 1, p. 1-8 8 p.

Research output: Contribution to journalArticle

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

Baldo, C., Casareto, L., Renieri, A., Merla, G., Garavaglia, B., Goldwurm, S., Pegoraro, E., Moggio, M., Mora, M., Politano, L., Sangiorgi, L., Mazzotti, R., Viotti, V., Meloni, I., Pellico, M. T., Barzaghi, C., Wang, C. M., Monaco, L. & Filocamo, M., Oct 24 2016, In : Orphanet Journal of Rare Diseases. 11, 1, p. 1-8 8 p.

Research output: Contribution to journalArticle

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

Baldo, C., Casareto, L., Renieri, A., Merla, G., Garavaglia, B., Goldwurm, S., Pegoraro, E., Moggio, M. G., Mora, M., Politano, L., Sangiorgi, L., Mazzotti, R., Viotti, V., Meloni, I., Pellico, M. T., Barzaghi, C., Wang, C. M., Monaco, L. & Filocamo, M., Oct 24 2016, In : Orphanet Journal of Rare Diseases. 11, 1, p. 1-8 8 p.

Research output: Contribution to journalArticle