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Research Output 1994 2019

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Article
2019

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

Pareyson, D., Stojkovic, T., Reilly, M. M., Leonard-Louis, S., Laurà, M., Blake, J., Parman, Y., Battaloglu, E., Tazir, M., Bellatache, M., Bonello-Palot, N., Lévy, N., Sacconi, S., Guimarães-Costa, R., Attarian, S., Latour, P., Solé, G., Megarbane, A., Horvath, R., Ricci, G. & 22 others, Choi, B. O., Schenone, A., Gemelli, C., Geroldi, A., Sabatelli, M., Luigetti, M., Santoro, L., Manganelli, F., Quattrone, A., Valentino, P., Murakami, T., Scherer, S. S., Dankwa, L., Shy, M. E., Bacon, C. J., Herrmann, D. N., Zambon, A., Tramacere, I., Pisciotta, C., Magri, S., Previtali, S. C. & Bolino, A., Jul 1 2019, In : Annals of Neurology. 86, 1, p. 55-67 13 p.

Research output: Contribution to journalArticle

Multicenter Studies
Retrospective Studies
Mutation
Proteins
Neural Conduction

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

Lamin Type A
Cardiomyopathies
Neuromuscular Manifestations
Heart Diseases
Nervous System

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

muscular dystrophy
Duchenne Muscular Dystrophy
Natural History
natural history
exons

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

Expanding the spectrum of genes responsible for hereditary motor neuropathies

Previtali, S. C., Zhao, E., Lazarevic, D., Pipitone, G. B., Fabrizi, G. M., Manganelli, F., Mazzeo, A., Pareyson, D., Schenone, A., Taroni, F., Vita, G., Bellone, E., Ferrarini, M., Garibaldi, M., Magri, S., Padua, L., Pennisi, E., Pisciotta, C., Riva, N., Scaioli, V. & 11 others, Scarlato, M., Tozza, S., Geroldi, A., Jordanova, A., Ferrari, M., Molineris, I., Reilly, M. M., Comi, G., Carrera, P., Devoto, M. & Bolino, A., Oct 1 2019, In : Journal of Neurology, Neurosurgery and Psychiatry. 90, 10, p. 1171-1179 9 p.

Research output: Contribution to journalArticle

Charcot-Marie-Tooth Disease
Genes
Exome
Phenotype
Neuromuscular Diseases

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

muscular dystrophy
Duchenne Muscular Dystrophy
Natural History
natural history
exons

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

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., Comi, G. P. & 6 others, Sansone, V. A., Donati, A., Bertini, E., Muntoni, F., Goemans, N. & Mercuri, E., 2019, In : PLoS One. 14, 6, e0218683.

Research output: Contribution to journalArticle

2018

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

Glycogen Storage Disease Type II
Enzyme Replacement Therapy
Skeletal Muscle
Muscles
Biopsy
2017

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

Duchenne Muscular Dystrophy
Italy
Creatine Kinase
Incidental Findings
Muscle Weakness

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

Duchenne Muscular Dystrophy
Italy
Incidental Findings
Creatine
Muscle Weakness

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

Duchenne Muscular Dystrophy
Italy
Creatine Kinase
Incidental Findings
Muscle Weakness

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

Vocal Cord Paralysis
Stretch Reflex
Hoarseness
Respiratory Sounds
Natural History
2016

Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy

Mercuri, E., Signorovitch, J. E., Swallow, E., Song, J., Ward, S. J., Pane, M., Mazzone, E. S., Messina, S., Vita, G., Sormani, M. P., D'Amico, A., Berardinelli, A., Magri, F., Comi, G. P., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Bruno, C. & 9 others, Politano, L., Previtali, S., Binks, M. H., Campion, G., Charnas, L., Kaye, E., Kelly, M., Morris, C. & Reha, A., Sep 1 2016, In : Neuromuscular Disorders. 26, 9, p. 576-583 8 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Natural History
Clinical Trials
Italy
Steroids

Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy

Mercuri, E., Signorovitch, J. E., Swallow, E., Song, J., Ward, S. J., Pane, M., Mazzone, E. S., Messina, S., Vita, G., Sormani, M. P., D'Amico, A., Berardinelli, A., Magri, F., Comi, G. P., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Bruno, C. & 9 others, Politano, L., Previtali, S., Binks, M. H., Campion, G., Charnas, L., Kaye, E., Kelly, M., Morris, C. & Reha, A., Sep 1 2016, In : Neuromuscular Disorders. 26, 9, p. 576-583 8 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Natural History
Clinical Trials
Italy
Steroids

Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy

Mercuri, E., Signorovitch, J. E., Swallow, E., Song, J., Ward, S. J., Pane, M., Mazzone, E., Messina, S., Vita, G. L., Sormani, M. P., D'Amico, A., Berardinelli, A., Magri, F., Comi, G. P., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Bruno, C. & 9 others, Politano, L., Previtali, S., Binks, M. H., Campion, G., Charnas, L., Kaye, E., Kelly, M., Morris, C. & Reha, A., Sep 1 2016, In : Neuromuscular Disorders. 26, 9, p. 576-583 8 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Natural History
Clinical Trials
Italy
Steroids

Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy

Mercuri, E., Signorovitch, J. E., Swallow, E., Song, J., Ward, S. J., Pane, M., Mazzone, E. S., Messina, S., Vita, G., Sormani, M. P., D'Amico, A., Berardinelli, A., Magri, F., Comi, G. P., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Bruno, C. & 9 others, Politano, L., Previtali, S., Binks, M. H., Campion, G., Charnas, L., Kaye, E., Kelly, M., Morris, C. & Reha, A., Sep 1 2016, In : Neuromuscular Disorders. 26, 9, p. 576-583 8 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Natural History
Clinical Trials
Italy
Steroids

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., Jul 4 2016, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Italy
Creatine Kinase
Incidental Findings
Muscle Weakness

Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold

Noseda, R., Guerrero-Valero, M., Alberizzi, V., Previtali, S. C., Sherman, D. L., Palmisano, M., Huganir, R. L., Nave, K. A., Cuenda, A., Feltri, M. L., Brophy, P. J. & Bolino, A., Apr 12 2016, In : PLoS Biology. 14, 4, e1002440.

Research output: Contribution to journalArticle

myelination
Kinesin
peripheral nervous system
Peripheral Nervous System
Neurology

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

Mendell, J. R., Goemans, N., Lowes, L. P., Alfano, L. N., Berry, K., Shao, J., Kaye, E. M., Mercuri, E. & Previtali, S., Feb 1 2016, In : Annals of Neurology. 79, 2, p. 257 - 271 15 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Walking
Exons
Morpholinos
Lung

Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation

Colombo, I., Pagliarani, S., Testolin, S., Cinnante, C. M., Fagiolari, G., Ciscato, P., Bordoni, A., Fortunato, F., Magri, F., Previtali, S. C., Velardo, D., Sciacco, M., Comi, G. P. & Moggio, M., 2016, In : Journal of Neurology, Neurosurgery and Psychiatry. 87, 7, p. 797-800 4 p.

Research output: Contribution to journalArticle

Muscle MRI findings in facioscapulohumeral muscular dystrophy

Gerevini, S., Scarlato, M., Maggi, L., Cava, M., Caliendo, G., Pasanisi, B., Falini, A., Previtali, S. & Morandi, L., Mar 1 2016, In : European Radiology. 26, 3, p. 693-705 13 p.

Research output: Contribution to journalArticle

Facioscapulohumeral Muscular Dystrophy
Muscles
Muscular Dystrophies
Muscular Diseases
Atrophy

Muscle MRI findings in facioscapulohumeral muscular dystrophy

Gerevini, S., Scarlato, M., Maggi, L., Cava, M., Caliendo, G., Pasanisi, B., Falini, A., Previtali, S. C. & Morandi, L., Mar 1 2016, In : European Radiology. 26, 3, p. 693-705 13 p.

Research output: Contribution to journalArticle

Facioscapulohumeral Muscular Dystrophy
Muscles
Muscular Dystrophies
Muscular Diseases
Atrophy

Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination

Bolino, A., Piguet, F., Alberizzi, V., Pellegatta, M., Rivellini, C., Guerrero-Valero, M., Noseda, R., Brombin, C., Nonis, A., D'Adamo, P., Taveggia, C. & Previtali, S., Dec 1 2016, In : EMBO Molecular Medicine. 8, 12, p. 1438-1454 17 p.

Research output: Contribution to journalArticle

Neuregulin-1
Niacin
Amyloid Precursor Protein Secretases
Myelin Sheath
Schwann Cells

Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy?

DMD Italian Group, Apr 1 2016, In : Neuromuscular Disorders. 26, 4-5, p. 261-263 3 p.

Research output: Contribution to journalArticle

Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy?

Mercuri, E., Baranello, G., Battini, R., Berardinelli, A. L., Bertini, E. S., Bruno, C., Comi, G. P., D'Amico, A., D'Angelo, M. G., Gorni, K., Messina, S., Mongini, T., Pane, M., Pegoraro, E., Pini, A., Politano, L., Previtali, S., Ricci, F., Sansone, V. & Vita, G. L., Apr 1 2016, In : Neuromuscular Disorders. 26, 4-5, p. 261-263 3 p.

Research output: Contribution to journalArticle

Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy?

Mercuri, E., Baranello, G., Battini, R., Berardinelli, A. L., Bertini, E. S., Bruno, C., Comi, G. P., D'Amico, A., D'Angelo, M. G., Gorni, K., Messina, S., Mongini, T., Pane, M., Pegoraro, E., Pini, A., Politano, L., Previtali, S., Ricci, F., Sansone, V. & Vita, G. L., Apr 1 2016, In : Neuromuscular Disorders. 26, 4-5, p. 261-263 3 p.

Research output: Contribution to journalArticle

Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy?

Mercuri, E., Baranello, G., Battini, R., Berardinelli, A. L., Bertini, E. S., Bruno, C., Comi, G. P., D'Amico, A., D'Angelo, M. G., Gorni, K., Messina, S., Mongini, T., Pane, M., Pegoraro, E., Pini, A., Politano, L., Previtali, S., Ricci, F., Sansone, V. & Vita, G. L., Apr 1 2016, In : Neuromuscular Disorders. 26, 4-5, p. 261-263 3 p.

Research output: Contribution to journalArticle

Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy?

Mercuri, E., Baranello, G., Battini, R., Berardinelli, A. L., Bertini, E. S., Bruno, C., Comi, G. P., D'Amico, A., D'Angelo, M. G., Gorni, K., Messina, S., Mongini, T., Pane, M., Pegoraro, E., Pini, A., Politano, L., Previtali, S., Ricci, F., Sansone, V. & Vita, G. L., Apr 1 2016, In : Neuromuscular Disorders. 26, 4-5, p. 261-263 3 p.

Research output: Contribution to journalArticle

Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy?

Mercuri, E., Baranello, G., Battini, R., Berardinelli, A., Bertini, E., Bruno, C., Comi, G. P., D'Amico, A., D'Angelo, G., Gorni, K., Messina, S., Mongini, T., Pane, M., Pegoraro, E., Pini, A., Politano, L., Previtali, S., Ricci, F., Sansone, V. & Vita, G. L., Apr 1 2016, In : Neuromuscular Disorders. 26, 4-5, p. 261-263 3 p.

Research output: Contribution to journalArticle

Timed rise from floor as a predictor of disease progression in Duchenne muscular dystrophy: An observational study

Mazzone, E. S., Coratti, G., Sormani, M. P., Messina, S., Pane, M., D'Amico, A., Colia, G., Fanelli, L., Berardinelli, A., Gardani, A., Lanzillotta, V., D'Ambrosio, P., Petillo, R., Cavallaro, F., Frosini, S., Bello, L., Bonfiglio, S., De Sanctis, R., Rolle, E., Forcina, N. & 19 others, Magri, F., Vita, G. L., Palermo, C., Donati, M. A., Procopio, E., Arnoldi, M. T., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Torrente, Y., Previtali, S., Bruno, C., Politano, L., Comi, G. P., D'Angelo, M. G., Bertini, E. S. & Mercuri, E., Mar 1 2016, In : PLoS One. 11, 3, e0151445.

Research output: Contribution to journalArticle

muscular dystrophy
Duchenne Muscular Dystrophy
observational studies
disease course
Observational Studies

Timed rise from floor as a predictor of disease progression in Duchenne muscular dystrophy: An observational study

Mazzone, E. S., Coratti, G., Sormani, M. P., Messina, S., Pane, M., D'Amico, A., Colia, G., Fanelli, L., Berardinelli, A., Gardani, A., Lanzillotta, V., D'Ambrosio, P., Petillo, R., Cavallaro, F., Frosini, S., Bello, L., Bonfiglio, S., De Sanctis, R., Rolle, E., Forcina, N. & 19 others, Magri, F., Vita, G. L., Palermo, C., Donati, M. A., Procopio, E., Arnoldi, M. T., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Torrente, Y., Previtali, S., Bruno, C., Politano, L., Comi, G. P., D'Angelo, M. G., Bertini, E. S. & Mercuri, E., Mar 1 2016, In : PLoS One. 11, 3, e0151445.

Research output: Contribution to journalArticle

muscular dystrophy
Duchenne Muscular Dystrophy
observational studies
disease course
Observational Studies

Timed rise from floor as a predictor of disease progression in Duchenne muscular dystrophy: An observational study

Mazzone, E. S., Coratti, G., Sormani, M. P., Messina, S., Pane, M., D'Amico, A., Colia, G., Fanelli, L., Berardinelli, A., Gardani, A., Lanzillotta, V., D'Ambrosio, P., Petillo, R., Cavallaro, F., Frosini, S., Bello, L., Bonfiglio, S., De Sanctis, R., Rolle, E., Forcina, N. & 19 others, Magri, F., Vita, G. L., Palermo, C., Donati, M. A., Procopio, E., Arnoldi, M. T., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Torrente, Y., Previtali, S., Bruno, C., Politano, L., Comi, G. P., D'Angelo, M. G., Bertini, E. S. & Mercuri, E., Mar 1 2016, In : PLoS One. 11, 3, e0151445.

Research output: Contribution to journalArticle

muscular dystrophy
Duchenne Muscular Dystrophy
observational studies
disease course
Observational Studies

Timed rise from floor as a predictor of disease progression in Duchenne muscular dystrophy: An observational study

Mazzone, E. S., Coratti, G., Sormani, M. P., Messina, S., Pane, M., D'Amico, A., Colia, G., Fanelli, L., Berardinelli, A., Gardani, A., Lanzillotta, V., D'Ambrosio, P., Petillo, R., Cavallaro, F., Frosini, S., Bello, L., Bonfiglio, S., De Sanctis, R., Rolle, E., Forcina, N. & 19 others, Magri, F., Vita, G., Palermo, C., Donati, M. A., Procopio, E., Arnoldi, M. T., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Torrente, Y., Previtali, S. C., Bruno, C., Politano, L., Comi, G. P., D'Angelo, M. G., Bertini, E. & Mercuri, E., Mar 1 2016, In : PLoS One. 11, 3, e0151445.

Research output: Contribution to journalArticle

muscular dystrophy
Duchenne Muscular Dystrophy
observational studies
disease course
Observational Studies

Timed rise from floor as a predictor of disease progression in Duchenne muscular dystrophy: An observational study

Mazzone, E. S., Coratti, G., Sormani, M. P., Messina, S., Pane, M., D'Amico, A., Colia, G., Fanelli, L., Berardinelli, A., Gardani, A., Lanzillotta, V., D'Ambrosio, P., Petillo, R., Cavallaro, F., Frosini, S., Bello, L., Bonfiglio, S., De Sanctis, R., Rolle, E., Forcina, N. & 19 others, Magri, F., Vita, G. L., Palermo, C., Donati, M. A., Procopio, E., Arnoldi, M. T., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Torrente, Y., Previtali, S., Bruno, C., Politano, L., Comi, G. P., D'Angelo, M. G., Bertini, E. S. & Mercuri, E., Mar 1 2016, In : PLoS One. 11, 3, e0151445.

Research output: Contribution to journalArticle

muscular dystrophy
Duchenne Muscular Dystrophy
observational studies
disease course
Observational Studies

Timed rise from floor as a predictor of disease progression in Duchenne muscular dystrophy: An observational study

Mazzone, E. S., Coratti, G., Sormani, M. P., Messina, S., Pane, M., D'Amico, A., Colia, G., Fanelli, L., Berardinelli, A. L., Gardani, A., Lanzillotta, V., D'Ambrosio, P., Petillo, R., Cavallaro, F., Frosini, S., Bello, L., Bonfiglio, S., De Sanctis, R., Rolle, E., Forcina, N. & 19 others, Magri, F., Vita, G., Palermo, C., Donati, M. A., Procopio, E., Arnoldi, M. T., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Torrente, Y., Previtali, S. C., Bruno, C., Politano, L., Comi, G. P., D'Angelo, M. G., Bertini, E. & Mercuri, E., 2016, In : PLoS One. 11, 3

Research output: Contribution to journalArticle

muscular dystrophy
Duchenne Muscular Dystrophy
observational studies
disease course
Observational Studies
2015

A novel heat shock protein 27 homozygous mutation: Widening of the continuum between MND/dHMN/CMT2

Scarlato, M., Viganò, F., Carrera, P., Previtali, S. C. & Bolino, A., Dec 1 2015, In : Journal of the Peripheral Nervous System. 20, 4, p. 419-421 3 p.

Research output: Contribution to journalArticle

Erratum: Long term natural history data in ambulant boys with duchenne muscular dystrophy: 36-month changes (PLoS ONE (2015) 10:12 (e0144079))

Pane, M., Mazzone, E. S., Sivo, S., Sormani, M. P., Messina, S., D'Amico, A., Carlesi, A., Vita, G., Fanelli, L., Berardinelli, A., Torrente, Y., Lanzillotta, V., Viggiano, E., D'Ambrosio, P., Cavallaro, F., Frosini, S., Barp, A., Bonfiglio, S., Scalise, R., De Sanctis, R. & 19 others, Rolle, E., Graziano, A., Magri, F., Palermo, C., Rossi, F., Donati, M. A., Sacchini, M., Arnoldi, M. T., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Previtali, S., Bruno, C., Politano, L., Comi, G. P., Bertini, E. & Mercuri, E., Dec 1 2015, In : PLoS One. 10, 12, 0144079.

Research output: Contribution to journalArticle

How Schwann Cells Sort Axons: New concepts

Feltri, M. L., Poitelon, Y. & Previtali, S. C., 2015, In : Neuroscientist. 22, 3, p. 252-265 14 p.

Research output: Contribution to journalArticle

Schwann Cells
Axons
Neuregulins
Reverse Genetics
Oligodendroglia

Intra-arterial transplantation of HLA-matched donor mesoangioblasts in Duchenne muscular dystrophy

Cossu, G., Previtali, S. C., Napolitano, S., Cicalese, M. P., Tedesco, F. S., Nicastro, F., Noviello, M., Roostalu, U., Natali Sora, M. G., Scarlato, M., De Pellegrin, M., Godi, C., Giuliani, S., Ciotti, F., Tonlorenzi, R., Lorenzetti, I., Rivellini, C., Benedetti, S., Gatti, R., Marktel, S. & 13 others, Mazzi, B., Tettamanti, A., Ragazzi, M., Imro, M. A., Marano, G., Ambrosi, A., Fiori, R., Sormani, M. P., Bonini, C., Venturini, M., Politi, L. S., Torrente, Y. & Ciceri, F., Dec 1 2015, In : EMBO Molecular Medicine. 7, 12, p. 1513-1528 16 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Transplantation
Tissue Donors
Clinical Trials, Phase I
Cell Transplantation

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases

Magri, F., Colombo, I., Del Bo, R., Previtali, S., Brusa, R., Ciscato, P., Scarlato, M., Ronchi, D., D'Angelo, M. G., Corti, S., Moggio, M., Bresolin, N. & Comi, G. P., Sep 24 2015, In : BMC Neurology. 15, 1, 172.

Research output: Contribution to journalArticle

Dystroglycans
Limb-Girdle Muscular Dystrophies
Terpenes
Mutation
Genes

Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy

Vaccari, I., Carbone, A., Previtali, S. C., Mironova, Y. A., Alberizzi, V., Noseda, R., Rivellini, C., Bianchi, F., Del Carro, U., D'Antonio, M., Lenk, G. M., Wrabetz, L., Giger, R. J., Meisler, M. H. & Bolino, A., Jan 15 2015, In : Human Molecular Genetics. 24, 2, p. 383-396 14 p., ddu451.

Research output: Contribution to journalArticle

Schwann Cells
Motor Neurons
Tooth
Demyelinating Diseases
Autophagy

Mesoangioblast delivery of miniagrin ameliorates murine model of merosin-deficient congenital muscular dystrophy type 1A

Domi, T., Porrello, E., Velardo, D., Capotondo, A., Biffi, A., Tonlorenzi, R., Amadio, S., Ambrosi, A., Miyagoe-Suzuki, Y., Takeda, S., Ruegg, M. A. & Previtali, S. C., Sep 3 2015, In : Skeletal Muscle. 5, 1, 30.

Research output: Contribution to journalArticle

Laminin
Laminin Receptors
Genetic Therapy
Muscles
Animal Muscular Dystrophy

Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype

Ronchi, D., Previtali, S. C., Sora, M. G. N., Barera, G., Del Menico, B., Corti, S., Bresolin, N. & Comi, G. P., May 1 2015, In : Journal of Molecular Neuroscience. 56, 1, p. 212-215 4 p.

Research output: Contribution to journalArticle

Spinal Muscular Atrophy
Phenotype
Mutation
RNA Splice Sites
Inborn Genetic Diseases

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy

Robusto, M., Fang, M., Asselta, R., Castorina, P., Previtali, S. C., Caccia, S., Benzoni, E., De Cristofaro, R., Yu, C., Cesarani, A., Liu, X., Li, W., Primignani, P., Ambrosetti, U., Xu, X., Duga, S. & Soldà, G., Jun 15 2015, In : European Journal of Human Genetics. 23, 6, p. 766-773 8 p.

Research output: Contribution to journalArticle

Peripheral Nervous System Diseases
Hearing Loss
Phenotype
Mutation
Genetic Association Studies
2014

6 minute walk test in Duchenne MD patients with different mutations: 12 month changes

Pane, M., Mazzone, E. S., Sormani, M. P., Messina, S., Vita, G. L., Fanelli, L., Berardinelli, A., Torrente, Y., D'Amico, A., Lanzillotta, V., Viggiano, E., D'Ambrosio, P., Cavallaro, F., Frosini, S., Bello, L., Bonfiglio, S., Scalise, R., De Sanctis, R., Rolle, E., Bianco, F. & 24 others, Van Der Haawue, M., Magri, F., Palermo, C., Rossi, F., Donati, M. A., Alfonsi, C., Sacchini, M., Arnoldi, M. T., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Previtali, S. C., Napolitano, S., Bruno, C., Politano, L., Comi, G. P., Bertini, E., Morandi, L., Gualandi, F., Ferlini, A., Goemans, N. & Mercuri, E., Jan 8 2014, In : PLoS One. 9, 1, e83400.

Research output: Contribution to journalArticle

muscular dystrophy
exons
Duchenne Muscular Dystrophy
Exons
mutation

Brain connectivity abnormalities extend beyond the sensorimotor network in peripheral neuropathy

Rocca, M. A., Valsasina, P., Fazio, R., Previtali, S. C., Messina, R., Falini, A., Comi, G. & Filippi, M., Feb 2014, In : Human Brain Mapping. 35, 2, p. 513-526 14 p.

Research output: Contribution to journalArticle

Peripheral Nervous System Diseases
Brain
Parietal Lobe
Corpus Callosum
Frontal Lobe