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Article
2020

Distal motor neuropathy associated with novel EMILIN1 mutation

Iacomino, M., Doliana, R., Marchese, M., Capuano, A., Striano, P., Spessotto, P., Bosisio, G., Iodice, R., Manganelli, F., Lanteri, P., Orsini, A., Baldassari, S., Baratto, S., Fruscione, F., Prada, V., Broda, P., Tessa, A., Bertocci, G., Schenone, A., Colombatti, A. & 4 others, Minetti, C., Santorelli, F. M., Zara, F. & Fiorillo, C., Apr 2020, In : Neurobiology of Disease. 137, 104757.

Research output: Contribution to journalArticle

Open Access
2019

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene

Marchet, S., Invernizzi, F., Blasevich, F., Bruno, V., Dusi, S., Venco, P., Fiorillo, C., Baranello, G., Pallotti, F., Lamantea, E., Mora, M., Tiranti, V. & Lamperti, C., Jul 2019, In : Mitochondrion. 47, p. 24-29 6 p.

Research output: Contribution to journalArticle

'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene

D'Amico, A., Fattori, F., Fiorillo, C., Paglietti, M. G., Testa, M. B. C., Verardo, M., Catteruccia, M., Bruno, C. & Bertini, E., Oct 2019, In : Neuromuscular Disorders. 29, 10, p. 766-770 5 p.

Research output: Contribution to journalArticle

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SKABAR ALDO, 2019, In : Nature Communications. 10, 1

Research output: Contribution to journalArticle

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SYNAPS Study Group, Dec 1 2019, In : Nature Communications. 10, 1, 3094.

Research output: Contribution to journalArticle

Open Access

A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy

Gemelli, C., Prada, V., Fiorillo, C., Fabbri, S., Maggi, L., Geroldi, A., Gibertini, S., Mandich, P., Trevisan, L., Fossa, P., Tagliafico, A. S., Schenone, A. & Grandis, M., Mar 15 2019, In : Journal of the Neurological Sciences. 398, p. 75-78 4 p.

Research output: Contribution to journalArticle

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course

Esposito, A., Falace, A., Wagner, M., Gal, M., Mei, D., Conti, V., Pisano, T., Aprile, D., Cerullo, M. S., De Fusco, A., Giovedì, S., Seibt, A., Magen, D., Polster, T., Eran, A., Stenton, S. L., Fiorillo, C., Ravid, S., Mayatepek, E., Hafner, H. & 8 others, Wortmann, S., Levanon, E. Y., Marini, C., Mandel, H., Benfenati, F., Distelmaier, F., Fassio, A. & Guerrini, R., 2019, In : Brain. 142, 12, p. 3876-3891 16 p.

Research output: Contribution to journalArticle

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course

Esposito, A., Falace, A., Wagner, M., Gal, M., Mei, D., Conti, V., Pisano, T., Aprile, D., Cerullo, M. S., De Fusco, A., Giovedì, S., Seibt, A., Magen, D., Polster, T., Eran, A., Stenton, S. L., Fiorillo, C., Ravid, S., Mayatepek, E., Hafner, H. & 8 others, Wortmann, S., Levanon, E. Y., Marini, C., Mandel, H., Benfenati, F., Distelmaier, F., Fassio, A. & Guerrini, R., Dec 1 2019, In : Brain : a journal of neurology. 142, 12, p. 3876-3891 16 p.

Research output: Contribution to journalArticle

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

Ross, J. A., Levy, Y., Ripolone, M., Kolb, J. S., Turmaine, M., Holt, M., Lindqvist, J., Claeys, K. G., Weis, J., Monforte, M., Tasca, G., Moggio, M., Figeac, N., Zammit, P. S., Jungbluth, H., Fiorillo, C., Vissing, J., Witting, N., Granzier, H., Zanoteli, E. & 3 others, Hardeman, E. C., Wallgren-Pettersson, C. & Ochala, J., 2019, In : Acta Neuropathologica. 138, 3, p. 477-495 19 p.

Research output: Contribution to journalArticle

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

Ross, J. A., Levy, Y., Ripolone, M., Kolb, J. S., Turmaine, M., Holt, M., Lindqvist, J., Claeys, K. G., Weis, J., Monforte, M., Tasca, G., Moggio, M., Figeac, N., Zammit, P. S., Jungbluth, H., Fiorillo, C., Vissing, J., Witting, N., Granzier, H., Zanoteli, E. & 3 others, Hardeman, E. C., Wallgren-Pettersson, C. & Ochala, J., Jan 1 2019, In : Acta Neuropathologica. 138, 3, p. 477-495

Research output: Contribution to journalArticle

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

Maggi, L., Bernasconi, P., D’Amico, A., Brugnoni, R., Fiorillo, C., Garibaldi, M., Astrea, G., Bruno, C., Santorelli, F. M., Liguori, R., Antonini, G., Evoli, A., Bertini, E., Rodolico, C. & Mantegazza, R., 2019, In : Neurological Sciences. 40, 3, p. 457-468 12 p.

Research output: Contribution to journalArticle

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

Scala, M., Brigati, G., Fiorillo, C., Nesti, C., Rubegni, A., Pedemonte, M., Bruno, C., Severino, M., Derchi, M., Minetti, C. & Santorelli, F. M., 2019, In : Neurogenetics. 20, 3, p. 165-172 8 p.

Research output: Contribution to journalArticle

Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14

Castori, M., Fiorillo, C., Agolini, E., Sacco, M., Minetti, C., Novelli, A., Guglielmi, G. & Bertini, E., 2019, In : American Journal of Medical Genetics, Part A. 179, 2, p. 317-321 5 p.

Research output: Contribution to journalArticle

Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging

Cozzi, A., Orellana, D. I., Santambrogio, P., Rubio, A., Cancellieri, C., Giannelli, S., Ripamonti, M., Taverna, S., Di Lullo, G., Rovida, E., Ferrari, M., Forni, G. L., Fiorillo, C., Broccoli, V. & Levi, S., Nov 12 2019, In : Stem Cell Reports. 13, 5, p. 832-846 15 p.

Research output: Contribution to journalArticle

The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan-Deficient Muscular Dystrophy

Gazzerro, E., Baratto, S., Assereto, S., Baldassari, S., Panicucci, C., Raffaghello, L., Scudieri, P., De Battista, D., Fiorillo, C., Volpi, S., Chaabane, L., Malnati, M., Messina, G., Bruzzone, S., Traggiai, E., Grassi, F., Minetti, C. & Bruno, C., Feb 2019, In : American Journal of Pathology. 189, 2, p. 354-369 16 p.

Research output: Contribution to journalArticle

2018

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study

Astrea, G., Romano, A., Angelini, C., Antozzi, C. G., Barresi, R., Battini, R., Battisti, C., Bertini, E., Bruno, C., Cassandrini, D., Fanin, M., Fattori, F., Fiorillo, C., Guerrini, R., Maggi, L., Mercuri, E., Morani, F., Mora, M., Moro, F., Pezzini, I. & 15 others, Picillo, E., Pinelli, M., Politano, L., Rubegni, A., Sanseverino, W., Savarese, M., Striano, P., Torella, A., Trevisan, C. P., Trovato, R., Zaraieva, I., Muntoni, F., Nigro, V., D'Amico, A. & Santorelli, F. M., 2018, In : Orphanet Journal of Rare Diseases. 13

Research output: Contribution to journalArticle

Clinical and molecular consequences of exon 78 deletion in DMD gene

Traverso, M., Assereto, S., Baratto, S., Iacomino, M., Pedemonte, M., Diana, M. C., Ferretti, M., Broda, P., Minetti, C., Gazzerro, E., Madia, F., Bruno, C., Zara, F. & Fiorillo, C., Jun 2018, In : Journal of Human Genetics. 63, 6, p. 761-764 4 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., 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., 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. 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

Detection of early nocturnal hypoventilation in neuromuscular disorders

Trucco, F., Pedemonte, M., Fiorillo, C., Tan, H-L., Carlucci, A., Brisca, G., Tacchetti, P., Bruno, C. & Minetti, C., 2018, In : Journal of International Medical Research. 46, 3, p. 1153-1161 9 p.

Research output: Contribution to journalArticle

Detection of early nocturnal hypoventilation in neuromuscular disorders

Trucco, F., Pedemonte, M., Fiorillo, C., Tan, H-L., Carlucci, A., Brisca, G., Tacchetti, P., Bruno, C. & Minetti, C., Mar 2018, In : Journal of International Medical Research. 46, 3, p. 1153-1161 9 p.

Research output: Contribution to journalArticle

Electrocardiographic Evaluation in Patients With Spinal Muscular Atrophy: A Case-Control Study

Falsaperla, R., Vitaliti, G., Collotta, A. D., Fiorillo, C., Pulvirenti, A., Alaimo, S., Romano, C. & Ruggieri, M., Jun 1 2018, In : Journal of Child Neurology. 33, 7, p. 487-492 6 p.

Research output: Contribution to journalArticle

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., 2018, In : Clinical Genetics. 93, 6, p. 1234-1239

Research output: Contribution to journalArticle

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., Jun 2018, In : Clinical Genetics. 93, 6, p. 1234-1239 6 p.

Research output: Contribution to journalArticle

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., Jun 1 2018, In : Clinical Genetics. 93, 6, p. 1234-1239 6 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

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

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

Maggi, L., Bernasconi, P., D'Amico, A., Brugnoni, R., Fiorillo, C., Garibaldi, M., Astrea, G., Bruno, C., Santorelli, F. M., Liguori, R., Antonini, G., Evoli, A., Bertini, E., Rodolico, C. & Mantegazza, R., Dec 15 2018, In : Neurological Sciences. 12 p.

Research output: Contribution to journalArticle

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

Undiagnosed Diseases Network, Dec 3 2018, In : EMBO Journal. 37, 23

Research output: Contribution to journalArticle

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

D'Amore, A., Tessa, A., Casali, C., Dotti, M. T., Filla, A., Silvestri, G., Antenora, A., Astrea, G., Barghigiani, M., Battini, R., Battisti, C., Bruno, I., Cereda, C., Dato, C., Di Iorio, G., Donadio, V., Felicori, M., Fini, N., Fiorillo, C., Gallone, S. & 33 others, Gemignani, F., Gigli, G. L., Graziano, C., Guerrini, R., Gurrieri, F., Kariminejad, A., Lieto, M., Marques LourenḈo, C., Malandrini, A., Mandich, P., Marcotulli, C., Mari, F., Massacesi, L., Melone, M. A. B., Mignarri, A., Milone, R., Musumeci, O., Pegoraro, E., Perna, A., Petrucci, A., Pini, A., Pochiero, F., Pons, M. R., Ricca, I., Rossi, S., Seri, M., Stanzial, F., Tinelli, F., Toscano, A., Valente, M., Federico, A., Rubegni, A. & Santorelli, F. M., 2018, In : Frontiers in Neurology. 9, p. 981

Research output: Contribution to journalArticle

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation

Iacomino, M., Fiorillo, C., Torella, A., Severino, M., Broda, P., Romano, C., Falsaperla, R., Pozzolini, G., Minetti, C., Striano, P., Nigro, V. & Zara, F., May 1 2018, In : European Journal of Paediatric Neurology. 22, 3, p. 541-543 3 p.

Research output: Contribution to journalArticle

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

Savarese, M., Torella, A., Musumeci, O., Angelini, C., Astrea, G., Bello, L., Bruno, C., Comi, G. P., Di Fruscio, G., Piluso, G., Di Iorio, G., Ergoli, M., Esposito, G., Fanin, M., Farina, O., Fiorillo, C., Garofalo, A., Giugliano, T., Magri, F., Minetti, C. & 11 others, Moggio, M., Passamano, L., Pegoraro, E., Picillo, E., Sampaolo, S., Santorelli, F. M., Semplicini, C., Udd, B., Toscano, A., Politano, L. & Nigro, V., 2018, In : Neuromuscular Disorders. 28, 7, p. 586-591 6 p.

Research output: Contribution to journalArticle

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

Savarese, M., Torella, A., Musumeci, O., Angelini, C., Astrea, G., Bello, L., Bruno, C., Comi, G. P., Di Fruscio, G., Piluso, G., Di Iorio, G., Ergoli, M., Esposito, G., Fanin, M., Farina, O., Fiorillo, C., Garofalo, A., Giugliano, T., Magri, F., Minetti, C. & 11 others, Moggio, M., Passamano, L., Pegoraro, E., Picillo, E., Sampaolo, S., Santorelli, F. M., Semplicini, C., Udd, B., Toscano, A., Politano, L. & Nigro, V., 2018, In : Neuromuscular Disorders. 28, 7, p. 586-591

Research output: Contribution to journalArticle

Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations

Severino, M., Lualdi, S., Fiorillo, C., Striano, P., De Toni, T., Peluso, S., De Michele, G., Rossi, A., Filocamo, M. & Bruno, C., Jun 1 2018, In : Journal of Neurology. 265, 6, p. 1419-1425 7 p.

Research output: Contribution to journalArticle

2017

Congenital myopathies: Clinical phenotypes and new diagnostic tools

Cassandrini, D., Trovato, R., Rubegni, A., Lenzi, S., Fiorillo, C., Baldacci, J., Minetti, C., Astrea, G., Bruno, C., Santorelli, F. M., Berardinelli, A., Bertini, E. S., Comi, G., D'Amico, A., Donati, M. A., Dotti, M. T., Fattori, F., Grandis, M., Maggi, L., Magri, F. & 25 others, Maioli, M. A., Malandrini, A., Mari, F., Massa, R., Mercuri, E., Merlini, L., Moggio, M., Mora, M., Morandi, L. O., Musumeci, O., Nigro, V., Pane, M., Pegoraro, E., Pennisi, E. M., Peverelli, L., Ricci, G., Rodolico, C., Ruggiero, L., Sacchini, M., Santoro, L., Savarese, M., Siciliano, G., Simonati, A., Tonin, P. & Toscano, A., 2017, In : Italian Journal of Pediatrics. 43, 1

Research output: Contribution to journalArticle

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD)

Garibaldi, M., Tasca, G., Diaz-Manera, J., Ottaviani, P., Laschena, F., Pantoli, D., Gerevini, S., Fiorillo, C., Maggi, L., Tasca, E., D'Amico, A., Musumeci, O., Toscano, A., Bruno, C., Massa, R., Angelini, C., Bertini, E., Antonini, G. & Pennisi, E. M., Jul 2017, In : Journal of Neurology. 264, 7, p. 1343-1344 2 p.

Research output: Contribution to journalArticle

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder

Cappuccio, G., Alagia, M., D'Anna, M., Ranieri, C., Di Tommaso, S., Bruno, C., Fiorillo, C., Pedemonte, M., Loconte, D., Della Casa, R., Strisciuglio, P., Ginocchio, M. I., Pinelli, M., Resta, N. & Brunetti-Pierri, N., Dec 2017, In : European Journal of Medical Genetics. 60, 12, p. 655-657 3 p.

Research output: Contribution to journalArticle

Muscle MRI in neutral lipid storage disease (NLSD)

Garibaldi, M., Tasca, G., Diaz-Manera, J., Ottaviani, P., Laschena, F., Pantoli, D., Gerevini, S., Fiorillo, C., Maggi, L., Tasca, E., D'Amico, A., Musumeci, O., Toscano, A., Bruno, C., Massa, R., Angelini, C., Bertini, E., Antonini, G. & Pennisi, E. M., Jul 2017, In : Journal of Neurology. 264, 7, p. 1334-1342 9 p.

Research output: Contribution to journalArticle

Muscle MRI in neutral lipid storage disease (NLSD)

Garibaldi, M., Tasca, G., Diaz-Manera, J., Ottaviani, P., Laschena, F., Pantoli, D., Gerevini, S., Fiorillo, C., Maggi, L., Tasca, E., D’Amico, A., Musumeci, O., Toscano, A., Bruno, C., Massa, R., Angelini, C., Bertini, E., Antonini, G. & Pennisi, EM., 2017, In : Journal of Neurology. 264, 7, p. 1334-1342 9 p.

Research output: Contribution to journalArticle

Muscle MRI in neutral lipid storage disease (NLSD)

Garibaldi, M., Tasca, G., Diaz-Manera, J., Ottaviani, P., Laschena, F., Pantoli, D., Gerevini, S., Fiorillo, C., Maggi, L., Tasca, E., D'Amico, A., Musumeci, O., Toscano, A., Bruno, C., Massa, R., Angelini, C., Bertini, E., Antonini, G. & Pennisi, E. M., Jul 2017, In : Journal of Neurology. 264, 7, p. 1334-1342 9 p.

Research output: Contribution to journalArticle

Muscle MRI in neutral lipid storage disease (NLSD)

Garibaldi, M., Tasca, G., Diaz-Manera, J., Ottaviani, P., Laschena, F., Pantoli, D., Gerevini, S., Fiorillo, C., Maggi, L., Tasca, E., D’Amico, A., Musumeci, O., Toscano, A., Bruno, C., Massa, R., Angelini, C., Bertini, E., Antonini, G. & Pennisi, E. M., 2017, In : Journal of Neurology. 264, 7, p. 1334-1342 9 p.

Research output: Contribution to journalArticle

Muscle MRI in neutral lipid storage disease (NLSD)

Garibaldi, M., Tasca, G., Diaz-Manera, J., Diaz-Manera, J., Ottaviani, P., Laschena, F., Pantoli, D., Gerevini, S., Fiorillo, C., Maggi, L., Tasca, E., D’Amico, A., Musumeci, O., Toscano, A., Bruno, C., Massa, R., Angelini, C., Bertini, E., Antonini, G. & Pennisi, E. M., Jul 1 2017, In : Journal of Neurology. 264, 7, p. 1334-1342 9 p.

Research output: Contribution to journalArticle

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

Finkel, R. S., Mercuri, E., Darras, B. T., Connolly, A. M., Kuntz, N. L., Kirschner, J., Chiriboga, C. A., Saito, K., Servais, L., Tizzano, E., Topaloglu, H., Tulinius, M., Montes, J., Glanzman, A. M., Bishop, K., Zhong, Z. J., Gheuens, S., Bennett, C. F., Schneider, E., Farwell, W. & 10 others, De Vivo, D. C., ENDEAR Study Group, Bruno, C., Fiorillo, C., Garaventa, A., Lanteri, P., Lanzillotta, V., Tacchetti, P., Manzitti, C. & Trucco, F., Nov 2 2017, In : New England Journal of Medicine. 377, 18, p. 1723-1732 10 p.

Research output: Contribution to journalArticle