20182020

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2020

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

Barp, A., Laforet, P., Bello, L., Tasca, G., Vissing, J., Monforte, M., Ricci, E., Choumert, A., Stojkovic, T., Malfatti, E., Pegoraro, E., Semplicini, C., Stramare, R., Scheidegger, O., Haberlova, J., Straub, V., Marini-Bettolo, C., Løkken, N., Diaz-Manera, J., Urtizberea, J. A. & 4 others, Mercuri, E., Kynčl, M., Walter, M. C. & Carlier, R. Y., Jan 2020, In : Journal of Neurology. 267, 1, p. 45-56 12 p.

Research output: Contribution to journalArticle

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

CINRG-DNHS Investigators, Apr 28 2020, In : Annals of Clinical and Translational Neurology.

Research output: Contribution to journalArticle

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

CINRG-DNHS Investigators, Jan 1 2020, (Accepted/In press) In : Annals of Clinical and Translational Neurology.

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. & 30 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. & Mercuri, E., Mar 3 2020, In : Frontiers in Genetics. 11, 131.

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

2019

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy

Jokela, M., Tasca, G., Vihola, A., Mercuri, E., Jonson, P-H., Lehtinen, S., Välipakka, S., Pane, M., Donati, M., Johari, M., Savarese, M., Huovinen, S., Isohanni, P., Palmio, J., Hartikainen, P. & Udd, B., Apr 2 2019, In : Neurology. 92, 14, p. e1600-e1609

Research output: Contribution to journalArticle

Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry

Muntoni, F., Desguerre, I., Guglieri, M., Osorio, A. N., Kirschner, J., Tulinius, M., Buccella, F., Elfring, G., Werner, C., Schilling, T., Trifillis, P., Zhang, O., Delage, A., Santos, C. L. & Mercuri, E., Oct 2019, In : Journal of Comparative Effectiveness Research. 8, 14, p. 1187-1200 14 p.

Research output: Contribution to journalArticle

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

Sprovieri, T., Ungaro, C., Sivo, S., Quintiliani, M., Contaldo, I., Veredice, C., Citrigno, L., Muglia, M., Cavalcanti, F., Cavallaro, S., Mercuri, E. & Battaglia, D., Mar 12 2019, In : BMC Medical Genetics. 20, 1, p. 40

Research output: Contribution to journalArticle

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

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

Research output: Contribution to journalArticle

Early Neurological Assessment in Infants with Hypoxic Ischemic Encephalopathy Treated with Therapeutic Hypothermia

Romeo, D. M., Bompard, S., Serrao, F., Leo, G., Cicala, G., Velli, C., Gallini, F., Priolo, F., Vento, G. & Mercuri, E., Aug 18 2019, In : Journal of Clinical Medicine. 8, 8

Research output: Contribution to journalArticle

Longitudinal natural history in young boys with Duchenne muscular dystrophy

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

Research output: Contribution to journalArticle

Longitudinal natural history in young boys with Duchenne muscular dystrophy

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

Research output: Contribution to journalArticle

Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy

SYROS and CINRG DNHS Investigators, Nov 5 2019, In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

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

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

Research output: Contribution to journalArticle

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

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

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

Research output: Contribution to journalArticle

Long-term progression in type II spinal muscular atrophy: A retrospective observational study

Mercuri, E., Lucibello, S., Pera, M. C., Carnicella, S., Coratti, G., de Sanctis, R., Messina, S., Mazzone, E., Forcina, N., Fanelli, L., Norcia, G., Antonaci, L., Frongia, A. L. & Pane, M., Sep 24 2019, In : Neurology. 93, 13, p. e1241-e1247

Research output: Contribution to journalArticle

MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients

Brogna, C., Cristiano, L., Verdolotti, T., Pichiecchio, A., Cinnante, C., Sansone, V., Sconfienza, L. M., Berardinelli, A., Garibaldi, M., Antonini, G., Pane, M., Pera, M. C., Antonaci, L., Ficociello, L., Albamonte, E., Tasca, G., Begliuomini, C., Tartaglione, T., Maggi, L., Govoni, A. & 3 others, Comi, G., Colosimo, C. & Mercuri, E., Jan 1 2019, (Accepted/In press) In : Journal of Neurology.

Research output: Contribution to journalArticle

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

Italian Expanded Access Program Working Group, Sep 2019, In : Annals of Neurology. 86, 3, p. 443-451 9 p.

Research output: Contribution to journalArticle

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

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

Research output: Contribution to journalArticle

Predominant distal muscle involvement in spinal muscular atrophy

Brogna, C., Cristiano, L., Verdolotti, T., Ficociello, L., Pera, M. C., Antonaci, L., De Sanctis, R., Pichiecchio, A., Cinnante, C. M., Tartaglione, T., Colosimo, C., Pane, M. & Mercuri, E., 2019, In : Neuromuscular Disorders. 29, 11, p. 910-911

Research output: Contribution to journalArticle

Predominant distal muscle involvement in spinal muscular atrophy

Brogna, C., Cristiano, L., Verdolotti, T., Ficociello, L., Pera, M. C., Antonaci, L., De Sanctis, R., Pichiecchio, A., Cinnante, C. M., Tartaglione, T., Colosimo, C., Pane, M. & Mercuri, E., 2019, In : Neuromuscular Disorders. 29, (11), p. 910-1 2 p.

Research output: Contribution to journalArticle

Resolution of skin necrosis after nusinersen treatment in an infant with spinal muscular atrophy

Salmin, F., Albamonte, E., Morettini, V., Gagliano, N., Mercuri, E. & Sansone, V. A., Jun 2019, In : Muscle and Nerve. 59, 6, p. E42-E44

Research output: Contribution to journalArticle

Revised upper limb module for spinal muscular atrophy: 12 month changes

iSMAC Consortium Group, Apr 2019, In : Muscle and Nerve. 59, 4, p. 426-430 5 p.

Research output: Contribution to journalArticle

Sleep disorders in low-risk preschool very preterm children

Romeo, D. M., Leo, G., Lapenta, L., Leone, D., Turrini, I., Brogna, C., Gallini, F., Cota, F., Vento, G. & Mercuri, E., Nov 2019, In : Sleep Medicine. 63, p. 137-141 5 p.

Research output: Contribution to journalArticle

Value of structured reporting in neuromuscular disorders

Alessandrino, F., Cristiano, L., Cinnante, C. M., Tartaglione, T., Gerevini, S., Verdolotti, T., Colafati, G. S., Ghione, E., Vitale, R., Peverelli, L., Brogna, C., Berardinelli, A., Moggio, M., Mercuri, E. M. & Pichiecchio, A., Jun 9 2019, In : Radiologia Medica. 124, 7, p. 628-635 7 p.

Research output: Contribution to journalArticle

Value of structured reporting in neuromuscular disorders

Alessandrino, F., Cristiano, L., Cinnante, C. M., Tartaglione, T., Gerevini, S., Verdolotti, T., Colafati, G. S., Ghione, E., Vitale, R., Peverelli, L., Brogna, C., Berardinelli, A., Moggio, M., Mercuri, E. M. & Pichiecchio, A., Jan 1 2019, In : Radiologia Medica. 124, 7, p. 628-635

Research output: Contribution to journalArticle

2018

A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript “single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1” written by pechmann and colleagues”

Sansone, V. A., Pane, M., Messina, S., Bruno, C., D'Amico, A., Albamonte, E., Catteruccia, M., Sframeli, M., Pedemonte, M., Vita, G., Bertini, E., Mercuri, E., Leone, D., de Sanctis, R., Forcina, N., Piastra, M., Genovese, O., Pedicelli, A., Versaci, A., Rulli, I. & 30 others, Gitto, E., Faraone, C., La Foresta, S., Macrì, M., Colia, G., Bonetti, A. M., Carlesi, A., Cutrera, R., Chiarini, M. B., Ferretti, M., Garaventa, A., Montobbio, G., Gandolfo, C., Iurilli, V., Tacchetti, P., Bobeica, E., D'Agostino, A., Pirola, A., Lupone, S., De Mattia, E., Falcier, E., Rao, F., Casiraghi, J., Salmin, F., Grandi, C., Fedeli, F., Mancini, L., Stoia, P., Heinen, M. & Cozzi, V., 2018, In : European Journal of Paediatric Neurology. 22, 4, p. 729-731 3 p.

Research output: Contribution to journalArticle

A prospective natural history study of type 1 spinal muscular atrophy

Bertini, E. & Mercuri, E., Apr 1 2018, In : Nature Reviews Neurology. 14, 4, p. 197-198 2 p.

Research output: Contribution to journalArticle

Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy

De Sanctis, R., Pane, M., Coratti, G., Palermo, C., Leone, D., Pera, M. C., Abiusi, E., Fiori, S., Forcina, N., Fanelli, L., Lucibello, S., Mazzone, E. S., Tiziano, F. D. & Mercuri, E., Jan 1 2018, In : Neuromuscular Disorders. 28, 1, p. 24-28 5 p.

Research output: Contribution to journalArticle

Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions

Battini, R., Chieffo, D., Bulgheroni, S., Piccini, G., Pecini, C., Lucibello, S., Lenzi, S., Moriconi, F., Pane, M., Astrea, G., Baranello, G., Alfieri, P., Vicari, S., Riva, D., Cioni, G. & Mercuri, E., 2018, In : Neuromuscular Disorders. 28, 2, p. 122-128 7 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., 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., Oct 26 2018, In : Genes. 9, 11, p. 10.3390/genes9110524

Research output: Contribution to journalArticle

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

Mercuri, E., Finkel, R. S., Muntoni, F., Wirth, B., Montes, J., Main, M., Mazzone, E. S., Vitale, M., Snyder, B., Quijano-Roy, S., Bertini, E., Davis, R. H., Meyer, O. H., Simonds, A. K., Schroth, M. K., Graham, R. J., Kirschner, J., Iannaccone, S. T., Crawford, T. O., Woods, S. & 30 others, Qian, Y., Sejersen, T., Tiziano, F. D., Tizzano, E., Topaloglu, H., Swoboda, K., Laing, N., Kayoko, S., Prior, T., Chung, W. K., Wu, S-M., Coleman, C., Gee, R., Glanzman, A., Kroksmark, A-K., Krosschell, K., Nelson, L., Rose, K., Stępień, A., Vuillerot, C., Dubousset, J., Farrington, D., Flynn, J., Halanski, M., Hasler, C., Miladi, L., Reilly, C., Roye, B., Yazici, M. & Bertoli, S., 2018, In : Neuromuscular Disorders. 28, 2, p. 103-115 13 p.

Research output: Contribution to journalArticle

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

Finkel, R. S., Mercuri, E., Meyer, O. H., Simonds, A. K., Schroth, M. K., Graham, R. J., Kirschner, J., Iannaccone, S. T., Crawford, T. O., Woods, S., Muntoni, F., Wirth, B., Montes, J., Main, M., Mazzone, E. S., Vitale, M., Snyder, B., Quijano-Roy, S., Bertini, E., Davis, R. H. & 3 others, Qian, Y., Sejersen, T. & group, SMA. C., 2018, In : Neuromuscular Disorders. 28, 3, p. 197-207 11 p.

Research output: Contribution to journalArticle

Does albuterol have an effect on neuromuscular junction dysfunction in spinal muscular atrophy?

Pera, M. C., Luigetti, M., Sivo, S., Lapenta, L., Granata, G., Antonaci, L., Coratti, G., Forcina, N., Pane, M. & Mercuri, E., Oct 1 2018, In : Neuromuscular Disorders. 28, 10, p. 863-864 2 p.

Research output: Contribution to journalArticle

Early involvement of the supinator muscle in Duchenne muscular dystrophy

Tartaglione, T., Brogna, C., Cristiano, L., Verdolotti, T., Pane, M., Ficociello, L., Fanelli, L., Colosimo, C. & Mercuri, E., Jan 1 2018, In : Neuromuscular Disorders. 28, 1, p. 62-63 2 p.

Research output: Contribution to journalArticle

Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy

Brogna, C., Cristiano, L., Tartaglione, T., Verdolotti, T., Fanelli, L., Ficociello, L., Tasca, G., Battini, R., Coratti, G., Forcina, N., De Santis, R., Norcia, G., Carnicella, S., Colosimo, C., Carlier, P., Pane, M. & Mercuri, E., 2018, In : PLoS One. 13, 6, p. e0199222

Research output: Contribution to journalArticle

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

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

Research output: Contribution to journalArticle

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., 2018, In : JAMA Neurology. 75, 5, p. 557-565 9 p.

Research output: Contribution to journalArticle

Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care

the Italian EAP working group, Jan 1 2018, (Accepted/In press) In : Neurological Sciences.

Research output: Contribution to journalArticle

Joint Laxity in Preschool Children Born Preterm

Romeo, D. M., Velli, C., Lucibello, S., Ferrantini, G., Leo, G., Brogna, C., Cota, F., Ricci, D., Gallini, F., Romagnoli, C., Vento, G. & Mercuri, E., Jun 1 2018, In : Journal of Pediatrics. 197, p. 104-108 5 p.

Research output: Contribution to journalArticle

Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: Results of a phase IIb double-blind study of salbutamol

Tiziano, F. D., Lomastro, R., Abiusi, E., Pasanisi, M. B., Di Pietro, L., Fiori, S., Baranello, G., Angelini, C., Sorarù, G., Gaiani, A., Mongini, T., Vercelli, L., Mercuri, E., Vasco, G., Pane, M., Vita, G., Vita, G., Messina, S., Petillo, R., Passamano, L. & 4 others, Politano, L., Campanella, A., Mantegazza, R. & Morandi, L., Jan 1 2018, (Accepted/In press) In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

Motor neuron disease: A prospective natural history study of type 1 spinal muscular atrophy

Bertini, E. & Mercuri, E., Apr 2018, In : Nature Reviews Neurology. 14, 4, p. 197-198 2 p.

Research output: Contribution to journalArticle

MRI in sarcoglycanopathies: A large international cohort study

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

Research output: Contribution to journalArticle

MRI in sarcoglycanopathies: A large international cohort study

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

Research output: Contribution to journalArticle

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

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

Research output: Contribution to journalArticle

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

Pane, M., Palermo, C., Messina, S., Sansone, V. A., Bruno, C., Catteruccia, M., Sframeli, M., Albamonte, E., Pedemonte, M., D'Amico, A., Brigati, G., de Sanctis, R., Coratti, G., Lucibello, S., Bertini, E., Vita, G., Tiziano, F. D., Mercuri, E. & group, O. B. O. T. I. EAP. W., 2018, In : Neuromuscular Disorders. 28, 7, p. 582-585 4 p.

Research output: Contribution to journalArticle

Report on the workshop: Meaningful outcome measures for Duchenne muscular dystrophy, London, UK, 30–31 January 2017

DMD outcome measure study group, Aug 1 2018, In : Neuromuscular Disorders. 28, 8, p. 690-701 12 p.

Research output: Contribution to journalArticle