1978 …2020

Research output per year

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Research Output

2017

A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations

Vicario, M., Calì, T., Cieri, D., Vallese, F., Bortolotto, R., Lopreiato, R., Zonta, F., Nardella, M., Micalizzi, A., Lefeber, D. J., Valente, E. M., Bertini, E., Zanotti, G., Zanni, G., Brini, M. & Carafoli, E., Dec 1 2017, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1863, 12, p. 3303-3312 10 p.

Research output: Contribution to journalArticle

A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect

Vicario, M., Calì, T., Cieri, D., Vallese, F., Bortolotto, R., Lopreiato, R., Zonta, F., Nardella, M., Micalizzi, A., Lefeber, D. J., Valente, E. M., Bertini, E., Zanotti, G., Zanni, G., Brini, M. & Carafoli, E., Dec 1 2017, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1863, 12, p. 3303-3312 10 p.

Research output: Contribution to journalArticle

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

McDonald, C. M., Campbell, C., Torricelli, R. E., Finkel, R. S., Flanigan, K. M., Goemans, N., Heydemann, P., Kaminska, A., Kirschner, J., Muntoni, F., Osorio, A. N., Schara, U., Sejersen, T., Shieh, P. B., Sweeney, H. L., Topaloglu, H., Tulinius, M., Vilchez, J. J., Voit, T., Wong, B. & 33 others, Elfring, G., Kroger, H., Luo, X., McIntosh, J., Ong, T., Riebling, P., Souza, M., Spiegel, R. J., Peltz, S. W., Mercuri, E., Alfano, L. N., Eagle, M., James, M. K., Lowes, L., Mayhew, A., Mazzone, E. S., Nelson, L., Rose, K. J., Abdel-Hamid, H. Z., Apkon, S. D., Barohn, R. J., Bertini, E., Bloetzer, C., de Vaud, L. C., Butterfield, R. J., Chabrol, B., Chae, J. H., Jongno-gu, D. R., Iannaccone, S. T., Clinical Evaluator Training Group, ACT DMD Study Group, Clinical Evaluator Training Group & Comi, G. P., Sep 23 2017, In : The Lancet. 390, 10101, p. 1489-1498 10 p.

Research output: Contribution to journalArticle

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

Dorboz, I., Aiello, C., Simons, C., Stone, R. T., Niceta, M., Elmaleh, M., Abuawad, M., Doummar, D., Bruselles, A., Wolf, N. I., Travaglini, L., Boespflug-Tanguy, O., Tartaglia, M., Vanderver, A., Rodriguez, D. & Bertini, E., Jan 1 2017, In : Brain. 140, 10, p. 2550-2556 7 p.

Research output: Contribution to journalArticle

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

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

SMA Care Group, Nov 11 2017, 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. & 2 others, Qian, Y. & Sejersen, T., Nov 23 2017, In : Neuromuscular Disorders.

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

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

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

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, 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

Estudio clínico y molecular en una familia con displasia cleidocraneal

Translated title of the contribution: Clinical and molecular study in a family with cleidocranial dysplasiaCallea, M., Fattori, F., Bertini, E. S., Yavuz, I., Bellacchio, E., Avendaño, A., Araque, D., Lacruz-Rengel, M. A., Da Silva, G. & Cammarata-Scalisi, F., Jan 1 2017, In : Archivos Argentinos de Pediatria. 115, 6, p. e440-e444

Research output: Contribution to journalArticle

Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience

Messina, S., Pane, M., Sansone, V., Bruno, C., Catteruccia, M., Vita, G., Palermo, C., Albamonte, E., Pedemonte, M., Bertini, E., Binetti, L., Mercuri, E., Italian EAP working Group & Ambrosini, A., Dec 2017, In : Neuromuscular Disorders. 27, 12, p. 1084-1086 3 p.

Research output: Contribution to journalArticle

Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience

Messina, S., Pane, M., Sansone, V., Bruno, C., Catteruccia, M., Vita, G., Palermo, C., Albamonte, E., Pedemonte, M., Bertini, E., Binetti, L., Mercuri, E., Group, I. EAP. W. & Ambrosini, A., Dec 1 2017, In : Neuromuscular Disorders. 27, 12, p. 1084-1086 3 p.

Research output: Contribution to journalArticle

Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin

Rizzo, F., Ramirez, A., Compagnucci, C., Salani, S., Melzi, V., Bordoni, A., Fortunato, F., Niceforo, A., Bresolin, N., Comi, G. P., Bertini, E., Nizzardo, M. & Corti, S., Apr 6 2017, In : Scientific Reports. 7, 46271.

Research output: Contribution to journalArticle

Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin

Rizzo, F., Ramirez, A., Compagnucci, C., Salani, S., Melzi, V., Bordoni, A., Fortunato, F., Niceforo, A., Bresolin, N., Comi, G. P., Bertini, E., Nizzardo, M. & Corti, S., Apr 6 2017, In : Scientific Reports. 7, p. 46271

Research output: Contribution to journalArticle

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

De Mori, R., Romani, M., D'Arrigo, S., Zaki, M. S., Lorefice, E., Tardivo, S., Biagini, T., Stanley, V., Musaev, D., Fluss, J., Micalizzi, A., Nuovo, S., Illi, B., Chiapparini, L., Di Marcotullio, L., Issa, M. Y., Anello, D., Casella, A., Ginevrino, M., Leggins, A. S. & 10 others, Roosing, S., Alfonsi, R., Rosati, J., Schot, R., Mancini, G. M. S., Bertini, E., Dobyns, W. B., Mazza, T., Gleeson, J. G. & Valente, E. M., Oct 5 2017, In : American Journal of Human Genetics. 101, 4, p. 552-563 12 p.

Research output: Contribution to journalArticle

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

De Mori, R., Romani, M., D'Arrigo, S., Zaki, M. S., Lorefice, E., Tardivo, S., Biagini, T., Stanley, V., Musaev, D., Fluss, J., Micalizzi, A., Nuovo, S., Illi, B., Chiapparini, L., Di Marcotullio, L., Issa, M. Y., Anello, D., Casella, A., Ginevrino, M., Leggins, A. S. N. & 10 others, Roosing, S., Alfonsi, R., Rosati, J., Schot, R., Mancini, G. M. S., Bertini, E., Dobyns, W. B., Mazza, T., Gleeson, J. G. & Valente, E. M., Oct 5 2017, In : American Journal of Human Genetics. 101, 4, p. 552-563 12 p.

Research output: Contribution to journalArticle

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome

Dentici, M. L., Barresi, S., Nardella, M., Bellacchio, E., Alfieri, P., Bruselles, A., Pantaleoni, F., Danieli, A., Iarossi, G., Cappa, M., Bertini, E., Tartaglia, M. & Zanni, G., Sep 10 2017, In : Gene. 628, p. 141-145 5 p.

Research output: Contribution to journalArticle

Identifying the dynamics of actin and tubulin polymerization in iPSCs and in iPSC-derived neurons

Magliocca, V., Petrini, S., Franchin, T., Borghi, R., Niceforo, A., Abbaszadeh, Z., Bertini, E. & Compagnucci, C., Dec 19 2017, In : Oncotarget. 8, 67, p. 111096-111109 14 p.

Research output: Contribution to journalArticle

Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy

Wang, H., Castiglioni, C., Kaçar Bayram, A., Fattori, F., Pekuz, S., Araneda, D., Per, H., Erazo, R., Gümüş, H., Zorludemir, S., Becker, K., Ortega, X., Bevilacqua, J. A., Bertini, E. & Cirak, S., Sep 1 2017, In : Neuromuscular Disorders. 27, 9, p. 836-842 7 p.

Research output: Contribution to journalArticle

International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

Mancuso, M., McFarland, R., Klopstock, T., Hirano, M., Artuch, R., Bertini, E., Bindoff, L., Carelli, V., Gorman, G., Hirano, M., Horvath, R., Kaufmann, P., Klopstock, T., Koga, Y., Koene, S., Lamperti, C., McFarland, R., Mancuso, M., Montoya, J., Javier Pérez-Mínguez Caneda, F. & 17 others, Procaccio, V., Prokisch, H., Rahman, S., Santantonio, P., Schülke, M., Servidei, S., Shungu, D. C., Siciliano, G., Smeitink, J., Taivassalo, T., Thompson, J. L. P., Turnbull, D., Van der Veer, E., Yeske, P. E., Zeviani, M., on behalf of the & consortium on Trial Readiness in Mitochondrial Myopathies, Dec 1 2017, In : Neuromuscular Disorders. 27, 12, p. 1126-1137 12 p.

Research output: Contribution to journalArticle

Keloids, spontaneous or after minor skin injury: Importance of not missing Bethlem myopathy

Echeverría, C., Diaz, A., Suarez, B., Bevilacqua, J. A., Bonnemann, C., Bertini, E. & Castiglioni, C., Feb 1 2017, In : Acta Dermato-Venereologica. 97, 2, p. 297-298 2 p.

Research output: Contribution to journalComment/debate

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., Sep 9 2017, In : Journal of neurology, neurosurgery, and psychiatry. 89, 1, p. 72-77 6 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., 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., 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

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

Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life

Lehmann-Horn, F., D'Amico, A., Bertini, E., Lomonaco, M., Merlini, L., Nelson, K. R., Philippi, H., Siciliano, G., Spaans, F. & Jurkat-Rott, K., Sep 2017, In : Acta Myologica. 36, 3, p. 125-134 10 p.

Research output: Contribution to journalArticle

Neutral Lipid Storage Diseases

Pennisi, E. M., Arca, M., Bertini, E., Bruno, C., Cassandrini, D., D'amico, A., Garibaldi, M., Gragnani, F., Maggi, L., Massa, R., Missaglia, S., Morandi, L., Musumeci, O., Pegoraro, E., Rastelli, E., Santorelli, F. M., Tasca, E., Tavian, D., Toscano, A., Angelini, C. & 1 others, Group, I. NLSD., May 12 2017, In : Orphanet Journal of Rare Diseases. 12, 1

Research output: Contribution to journalArticle

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

Pennisi, E. M., Arca, M., Bertini, E., Bruno, C., Cassandrini, D., D'amico, A., Garibaldi, M., Gragnani, F., Maggi, L., Massa, R., Missaglia, S., Morandi, L., Musumeci, O., Pegoraro, E., Rastelli, E., Santorelli, F. M., Tasca, E., Tavian, D., Toscano, A. & Angelini, C., 2017, In : Orphanet Journal of Rare Diseases. 12, 1, p. 1-10 10 p.

Research output: Contribution to journalArticle

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Nasca, A., Rizza, T., Doimo, M., Legati, A., Ciolfi, A., Diodato, D., Calderan, C., Carrara, G., Lamantea, E., Aiello, C., Di Nottia, M., Niceta, M., Lamperti, C., Ardissone, A., Bianchi-Marzoli, S., Iarossi, G., Bertini, E., Moroni, I., Tartaglia, M., Salviati, L. & 2 others, Carrozzo, R. & Ghezzi, D., May 12 2017, In : Orphanet Journal of Rare Diseases. 12, 1, p. 89

Research output: Contribution to journalArticle

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Nasca, A., Rizza, T., Doimo, M., Legati, A., Ciolfi, A., Diodato, D., Calderan, C., Carrara, G., Lamantea, E., Aiello, C., Di Nottia, M., Niceta, M., Lamperti, C., Ardissone, A., Bianchi-Marzoli, S., Iarossi, G., Bertini, E., Moroni, I., Tartaglia, M., Salviati, L. & 2 others, Carrozzo, R. & Ghezzi, D., May 12 2017, In : Orphanet Journal of Rare Diseases. 12, 1, p. 1-10 10 p.

Research output: Contribution to journalArticle

Oxidative stress in Duchenne muscular dystrophy: Focus on the NRF2 redox pathway

Petrillo, S., Pelosi, L., Piemonte, F., Travaglini, L., Forcina, L., Catteruccia, M., Petrini, S., Verardo, M., D'Amico, A., Musaró, A. & Bertini, E., Jul 1 2017, In : Human Molecular Genetics. 26, 14, p. 2781-2790 10 p.

Research output: Contribution to journalArticle

Reduced steroidogenesis in patients with PCDH19-female limited epilepsy

Trivisano, M., Lucchi, C., Rustichelli, C., Terracciano, A., Cusmai, R., Ubertini, G. M., Giannone, G., Bertini, E. S., Vigevano, F., Gecz, J., Biagini, G. & Specchio, N., Jun 1 2017, In : Epilepsia. 58, 6, p. e91-e95

Research output: Contribution to journalArticle

Revisiting mitochondrial ocular myopathies: a study from the Italian Network

Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Federico, A., Minetti, C., Moggio, M., Mongini, T., Santorelli, F. M., Servidei, S., Tonin, P., Ardissone, A., Bello, L., Bruno, C., Ienco, E. C., Diodato, D., Filosto, M., Lamperti, C., Moroni, I. & 13 others, Musumeci, O., Pegoraro, E., Primiano, G., Ronchi, D., Rubegni, A., Salvatore, S., Sciacco, M., Valentino, M. L., Vercelli, L., Toscano, A., Zeviani, M., Siciliano, G. & Mancuso, M., 2017, In : Journal of Neurology. 264, 8, p. 1777-1784 8 p.

Research output: Contribution to journalArticle

Revisiting mitochondrial ocular myopathies: a study from the Italian Network

Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Federico, A., Minetti, C., Moggio, M., Mongini, T., Santorelli, F. M., Servidei, S., Tonin, P., Ardissone, A., Bello, L., Bruno, C., Ienco, E. C., Diodato, D., Filosto, M., Lamperti, C., Moroni, I. & 13 others, Musumeci, O., Pegoraro, E., Primiano, G., Ronchi, D., Rubegni, A., Salvatore, S., Sciacco, M., Valentino, M. L., Vercelli, L., Toscano, A., Zeviani, M., Siciliano, G. & Mancuso, M., 2017, In : Journal of Neurology. 264, 8, p. 1777-1784 8 p.

Research output: Contribution to journalArticle

Revisiting mitochondrial ocular myopathies: a study from the Italian Network

Orsucci, D., Bertini, E., Angelini, C., Carelli, V., Comi, G. P., Federico, A., Minetti, C., Moggio, M., Mongini, T., Santorelli, F. M., Servidei, S., Tonin, P., Ardissone, A., Bello, L., Bruno, C., Ienco, E. C., Diodato, D., Filosto, M., Lamperti, C., Moroni, I. & 14 others, Musumeci, O., Pegoraro, E., Primiano, G., Ronchi, D., Rubegni, A., Salvatore, S., Sciacco, M., Valentino, M. L., Vercelli, L., Toscano, A., Zeviani, M., Siciliano, G., Mancuso, M. & Angelini, G., 2017, In : Journal of Neurology. 264, 8, p. 1777-1784 8 p.

Research output: Contribution to journalArticle

Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy

Bertini, E., Dessaud, E., Mercuri, E., Muntoni, F., Kirschner, J., Reid, C., Lusakowska, A., Comi, G. P., Cuisset, J. M., Abitbol, J. L., Scherrer, B., Ducray, P. S., Buchbjerg, J., Vianna, E., van der Pol, W. L., Vuillerot, C., Blaettler, T., Fontoura, P., André, C., Bruno, C. & 19 others, Chabrol, B., Deconinck, N., Estournet, B., Fontaine-Carbonnel, S., Goemans, N., Gorni, K., Govoni, A., Guglieri, M., Lochmuller, H., Magri, F., Mayer, M., Müller-Felber, W., Rivier, F., Roper, H., Schara, U., Scoto, M., van den Berg, L., Vita, G. & Walter, M. C., Jul 1 2017, In : The Lancet Neurology. 16, 7, p. 513-522 10 p.

Research output: Contribution to journalArticle

Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial

Bertini, E., Dessaud, E., Mercuri, E., Muntoni, F., Kirschner, J., Reid, C., Lusakowska, A., Comi, G. P., Cuisset, J. M., Abitbol, J. L., Scherrer, B., Ducray, P. S., Buchbjerg, J., Vianna, E., van der Pol, W. L., Vuillerot, C., Blaettler, T., Fontoura, P., André, C., Bruno, C. & 19 others, Chabrol, B., Deconinck, N., Estournet, B., Fontaine-Carbonnel, S., Goemans, N., Gorni, K., Govoni, A., Guglieri, M., Lochmuller, H., Magri, F., Mayer, M., Müller-Felber, W., Rivier, F., Roper, H., Schara, U., Scoto, M., van den Berg, L., Vita, G. & Walter, M. C., Jul 1 2017, In : The Lancet Neurology. 16, 7, p. 513-522 10 p.

Research output: Contribution to journalArticle

Senescence-associated ultrastructural features of long-term cultures of induced pluripotent stem cells (iPSCs)

Colasuonno, F., Borghi, R., Niceforo, A., Muzzi, M., Bertini, E., Di Giulio, A., Moreno, S. & Compagnucci, C., Jan 1 2017, In : Aging. 9, 10, p. 2206-2219 14 p.

Research output: Contribution to journalArticle