1987 …2020

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2020

Anti-MAG IgM: differences in antibody tests and correlation with clinical findings

Matà, S., Ambrosini, S., Saccomanno, D., Biagioli, T., Carpo, M., Amantini, A., Giannini, F., Barilaro, A., Toscani, L., Del Mastio, M., Comi, G. P. & Sorbi, S., 2020, In : Neurological Sciences. 41, 2, p. 365-372

Research output: Contribution to journalArticle

Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients

Faravelli, I., Meneri, M., Saccomanno, D., Velardo, D., Abati, E., Gagliardi, D., Parente, V., Petrozzi, L., Ronchi, D., Stocchetti, N., Calderini, E., D’Angelo, G., Chidini, G., Prandi, E., Ricci, G., Siciliano, G., Bresolin, N., Comi, G. P., Corti, S., Magri, F. & 1 others, Govoni, A., Jan 1 2020, (Accepted/In press) In : Journal of Cellular and Molecular Medicine.

Research output: Contribution to journalArticle

Open Access
2019

Anti-MAG IgM: differences in antibody tests and correlation with clinical findings

Matà, S., Ambrosini, S., Saccomanno, D., Biagioli, T., Carpo, M., Amantini, A., Giannini, F., Barilaro, A., Toscani, L., Del Mastio, M., Comi, G. P. & Sorbi, S., Oct 2019, In : Neurological Sciences.

Research output: Contribution to journalArticle

Can intestinal pseudo-obstruction drive recurrent stroke-like episodes in late-onset MELAS syndrome? A case report and review of the literature

Gagliardi, D., Mauri, E., Magri, F., Velardo, D., Meneri, M., Abati, E., Brusa, R., Faravelli, I., Piga, D., Ronchi, D., Triulzi, F., Peverelli, L., Sciacco, M., Bresolin, N., Comi, G. P., Corti, S. & Govoni, A., Jan 1 2019, In : Frontiers in Neurology. 10, JAN, 38.

Research output: Contribution to journalArticle

Open Access

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

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

Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice

Sottnik, J. L., Mallaredy, V., Chauca-Diaz, A., Ritterson Lew, C., Owens, C., Dancik, G. M., Pagliarani, S., Lucchiari, S., Moggio, M., Ripolone, M., Comi, G. P., Frierson, H. F., Clouthier, D. & Theodorescu, D., Mar 12 2019, In : Carcinogenesis. 40, 1, p. 194-201 8 p.

Research output: Contribution to journalArticle

Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons

Rizzo, F., Nizzardo, M., Vashisht, S., Molteni, E., Melzi, V., Taiana, M., Salani, S., Santonicola, P., Di Schiavi, E., Bucchia, M., Bordoni, A., Faravelli, I., Bresolin, N., Comi, G. P., Pozzoli, U. & Corti, S., Feb 1 2019, In : Brain : a journal of neurology. 142, 2, p. 276-294 19 p.

Research output: Contribution to journalArticle

Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons

Rizzo, F., Nizzardo, M., Vashisht, S., Molteni, E., Melzi, V., Taiana, M., Salani, S., Santonicola, P., Di Schiavi, E., Bucchia, M., Bordoni, A., Faravelli, I., Bresolin, N., Comi, G. P., Pozzoli, U. & Corti, S., 2019, In : Brain. 142, 2, p. 276-294 19 p.

Research output: Contribution to journalArticle

Lipomatosis incidence and characteristics in an Italian cohort of mitochondrial patients

Musumeci, O., Barca, E., Lamperti, C., Servidei, S., Comi, G. P., Moggio, M., Mongini, T., Siciliano, G., Filosto, M., Pegoraro, E., Primiano, G., Ronchi, D., Vercelli, L., Orsucci, D., Bello, L., Zeviani, M., Mancuso, M. & Toscano, A., Jan 1 2019, In : Frontiers in Neurology. 10, FEB, 160.

Research output: Contribution to journalArticle

Open Access

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

Musumeci, O., Barca, E., Lamperti, C., Servidei, S., Comi, G. P., Moggio, M., Mongini, T., Siciliano, G., Filosto, M., Pegoraro, E., Primiano, G., Ronchi, D., Vercelli, L., Orsucci, D., Bello, L., Zeviani, M., Mancuso, M. & Toscano, A., 2019, In : Frontiers in Neurology. 10, p. 160

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 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

Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome

Bitetto, G., Ronchi, D., Bonato, S., Pittaro, A., Compagnoni, G. M., Bordoni, A., Salani, S., Frattini, E., Lopez, G., Cribiù, F. M., Corti, S., Comi, G. P., Bresolin, N. & Di Fonzo, A., Dec 1 2019, In : Human Molecular Genetics. 28, 23, p. 3921-3927 7 p.

Research output: Contribution to journalArticle

MicroRNAs as regulators of cell death mechanisms in amyotrophic lateral sclerosis

Gagliardi, D., Comi, G. P., Bresolin, N. & Corti, S., 2019, In : Journal of Cellular and Molecular Medicine. 23, 3, p. 1647-1656

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

Muscle pain in mitochondrial diseases: a picture from the Italian network

Filosto, M., Cotti Piccinelli, S., Lamperti, C., Mongini, T., Servidei, S., Musumeci, O., Tonin, P., Santorelli, F. M., Simoncini, C., Primiano, G., Vercelli, L., Rubegni, A., Galvagni, A., Moggio, M., Comi, G. P., Carelli, V., Toscano, A., Padovani, A., Siciliano, G. & Mancuso, M., 2019, In : Journal of Neurology. 266, 4, p. 953-959 7 p.

Research output: Contribution to journalArticle

Novel mutations in DNA2 associated with myopathy and mtDNA instability

Ronchi, D., Liu, C., Caporali, L., Piga, D., Li, H., Tagliavini, F., Valentino, M. L., Ferrò, M. T., Bini, P., Zheng, L., Carelli, V., Shen, B. & Comi, G. P., 2019, In : Annals of Clinical and Translational Neurology. 6, 9, p. 1893-1899

Research output: Contribution to journalArticle

Open Access

Ophthalmoplegia due to Miller Fisher syndrome in a patient with myasthenia gravis

Brusa, R., Faravelli, I., Gagliardi, D., Magri, F., Cogiamanian, F., Saccomanno, D., Cinnante, C., Mauri, E., Abati, E., Bresolin, N., Corti, S. & Comi, G. P., Jan 1 2019, In : Frontiers in Neurology. 10, JUL, 823.

Research output: Contribution to journalArticle

Open Access

R-Loops in Motor Neuron Diseases

Perego, M. G. L., Taiana, M., Bresolin, N., Comi, G. P. & Corti, S., 2019, In : Molecular Neurobiology. 56, 4, p. 2579-2589

Research output: Contribution to journalArticle

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

Galimberti, V., Tironi, R., Lerario, A., Scali, M., Del Bo, R., Rodolico, C., Brizzi, T., Gibertini, S., Maggi, L., Mora, M., Toscano, A., Comi, G. P., Sciacco, M., Moggio, M. & Peverelli, L., Jan 1 2019, (Accepted/In press) In : European Journal of Neurology.

Research output: Contribution to journalArticle

2018

A de novo C19orf12 heterozygous mutation in a patient with MPAN

Monfrini, E., Melzi, V., Buongarzone, G., Franco, G., Ronchi, D., Dilena, R., Scola, E., Vizziello, P., Bordoni, A., Bresolin, N., Comi, G. P., Corti, S. & Di Fonzo, A., 2018, In : Parkinsonism and Related Disorders. 48, p. 109-111

Research output: Contribution to journalArticle

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

Brusa, R., Magri, F., Papadimitriou, D., Govoni, A., Del Bo, R., Ciscato, P., Savarese, M., Cinnante, C., Walter, M. C., Abicht, A., Bulst, S., Corti, S., Moggio, M., Bresolin, N., Nigro, V. & Comi, G. P., 2018, In : Neuromuscular Disorders. 28, 6, p. 532-537

Research output: Contribution to journalArticle

Bilateral cavernous carotid aneurysms: Atypical presentation of a rare cause of mass effect. A case report and a review of the literature

Gagliardi, D., Faravelli, I., Villa, L., Pero, G., Cinnante, C., Brusa, R., Mauri, E., Tresoldi, L., Magri, F., Govoni, A., Bresolin, N., Comi, G. P. & Corti, S., Aug 2 2018, In : Frontiers in Neurology. 9, AUG, 619.

Research output: Contribution to journalArticle

Central nervous system involvement in common variable immunodeficiency: A case of acute unilateral optic neuritis in a 26 -year-old Italian Patient

Abati, E., Faravelli, I., Magri, F., Govoni, A., Velardo, D., Gagliardi, D., Mauri, E., Brusa, R., Bresolin, N., Fabio, G., Comi, G. P., Carrabba, M. & Corti, S., Nov 30 2018, In : Frontiers in Neurology. 9, NOV, 1031.

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

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

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Nicolas, A., Kenna, K., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., Murphy, N. A., van Vugt, J., Geiger, J. T., Van der Spek, R. A., Pliner, H. A., [Unknown], S., Smith, B. N., Marangi, G. & 401 others, Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., Logullo, F. O., Simone, I. L., Logroscino, G., Salvi, F., Bartolomei, I., Borghero, G., Murru, M. R., Costantino, E., Pani, C., Puddu, R., Caredda, C., Piras, V., Tranquilli, S., Cuccu, S., Corongiu, D., Melis, M., Milia, A., Marrosu, F., Marrosu, M. G., Floris, G., Cannas, A., Capasso, M., Caponnetto, C., Mancardi, G., Origone, P., Mandich, P., Conforti, F. L., Cavallaro, S., Mora, G., Marinou, K., Sideri, R., Penco, S., Mosca, L., Lunetta, C., Pinter, G. L., Corbo, M., Riva, N., Carrera, P., Volanti, P., Mandrioli, J., Fini, N., Fasano, A., Tremolizzo, L., Arosio, A., Ferrarese, C., Trojsi, F., Tedeschi, G., Monsurrò, M. R., Piccirillo, G., Femiano, C., Ticca, A., Ortu, E., La Bella, V., Spataro, R., Colletti, T., Sabatelli, M., Zollino, M., Conte, A., Luigetti, M., Lattante, S., Santarelli, M., Petrucci, A., Pugliatti, M., Pirisi, A., Parish, L. D., Occhineri, P., Giannini, F., Battistini, S., Ricci, C., Benigni, M., Cau, T. B., Loi, D., Calvo, A., Moglia, C., Brunetti, M., Barberis, M., Restagno, G., Casale, F., Marrali, G., Fuda, G., Ossola, I., Cammarosano, S., Canosa, A., Ilardi, A., Manera, U., Grassano, M., Tanel, R., Pisano, F., Mazzini, L., Messina, S., D'Alfonso, S., Corrado, L., Ferrucci, L., Harms, M. B., Goldstein, D. B., Shneider, N. A., Goutman, S., Simmons, Z., Miller, T. M., Chandran, S., Pal, S., Manousakis, G., Appel, S. H., Simpson, E., Wang, L., Baloh, R. H., Gibson, S., Bedlack, R., Lacomis, D., Sareen, D., Sherman, A., Bruijn, L., Penny, M., Moreno, C. D. A. M., Kamalakaran, S., Allen, A. S., Boone, B. E., Brown, R., Carulli, J. P., Chesi, A., Chung, W. K., Cirulli, E. T., Cooper, G. M., Couthouis, J., Day-Williams, A. G., Dion, P. A., Gitler, A. D., Glass, J. D., Han, Y., Harris, T., Hayes, S. D., Jones, A. L., Keebler, J., Krueger, B. J., Lasseigne, B. N., Levy, S. E., Lu, Y-F., Maniatis, T., McKenna-Yasek, D., Myers, R. M., Petrovski, S., Pulst, S. M., Raphael, A. R., Ravits, J., Ren, Z., Rouleau, G. A., Sapp, P. C., Sims, K. B., Staropoli, J. F., Waite, L. L., Wang, Q., Wimbish, J. R., Xin, W. W., Phatnani, H., Kwan, J., Broach, J. R., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Fraenkel, E., Ostrow, L. W., Baas, F., Zaitlen, N., Berry, J. D., Malaspina, A., Fratta, P., Cox, G. A., Thompson, L. M., Finkbeiner, S., Dardiotis, E., Hornstein, E., MacGowan, D. J., Heiman-Patterson, T., Hammell, M. G., Patsopoulos, N. A., Dubnau, J., Nath, A., Musunuri, R. L., Evani, U. S., Abhyankar, A., Zody, M. C., Kaye, J., Wyman, S., LeNail, A., Lima, L., Rothstein, J. D., Svendsen, C. N., Van Eyk, J., Maragakis, N. J., Kolb, S. J., Cudkowicz, M., Baxi, E., Wyman, S. K., Van Eyk, J. E., Benatar, M., Taylor, J. P., Wu, G., Rampersaud, E., Wuu, J., Rademakers, R., Züchner, S., Schule, R., McCauley, J., Hussain, S., Cooley, A., Wallace, M., Clayman, C., Barohn, R., Statland, J., Ravits, J., Swenson, A., Jackson, C., Trivedi, J., Khan, S., Katz, J., Jenkins, L., Burns, T., Gwathmey, K., Caress, J., McMillan, C., Elman, L., Pioro, E., Heckmann, J., So, Y., Walk, D., Maiser, S., Zhang, J., Silani, V., Gellera, C., Ratti, A., Taroni, F., Lauria, G., Verde, F., Fogh, I., Tiloca, C., Comi, G. P., Sorarù, G., Cereda, C., De Marchi, F., Corti, S., Ceroni, M., Siciliano, G., Filosto, M., Inghilleri, M., Peverelli, S., Colombrita, C., Poletti, B., Maderna, L., Del Bo, R., Gagliardi, S., Querin, G., Bertolin, C., Pensato, V., Castellotti, B., Camu, W., Mouzat, K., Lumbroso, S., Corcia, P., Meininger, V., Besson, G., Lagrange, E., Clavelou, P., Guy, N., Couratier, P., Vourch, P., Danel, V., Bernard, E., Lemasson, G., Laaksovirta, H., Myllykangas, L., Jansson, L., Valori, M., Ealing, J., Hamdalla, H., Rollinson, S., Pickering-Brown, S., Orrell, R. W., Sidle, K. C., Hardy, J., Singleton, A. B., Johnson, J. O., Arepalli, S., Polak, M., Asress, S., Al-Sarraj, S., King, A., Troakes, C., Vance, C., de Belleroche, J., ten Asbroek, A. L. M. A., Muñoz-Blanco, J. L., Hernandez, D. G., Ding, J., Gibbs, J. R., Scholz, S. W., Floeter, M. K., Campbell, R. H., Landi, F., Bowser, R., MacGowan, D. J. L., Kirby, J., Pioro, E. P., Pamphlett, R., Broach, J., Gerhard, G., Dunckley, T. L., Brady, C. B., Kowall, N. W., Troncoso, J. C., Le Ber, I., Heiman-Patterson, T. D., Kamel, F., Van Den Bosch, L., Strom, T. M., Meitinger, T., Shatunov, A., Van Eijk, K. R., de Carvalho, M., Kooyman, M., Middelkoop, B., Moisse, M., McLaughlin, R. L., van Es, M., Weber, M., Boylan, K. B., Van Blitterswijk, M., Morrison, K., Basak, A. N., Mora, J. S., Drory, V., Shaw, P. J., Turner, M. R., Talbot, K., Hardiman, O., Williams, K. L., Fifita, J. A., Nicholson, G. A., Blair, I. P., Esteban-Pérez, J., García-Redondo, A., Al-Chalabi, A., Al Kheifat, A., Andersen, P., Chio, A., Cooper-Knock, J., Dekker, A., Drory, V., Redondo, A. G., Gotkine, M., Hide, W., Iacoangeli, A., Glass, J., Kenna, K., Kiernan, M., Landers, J., McLaughlin, R., Mill, J., Neto, M. M., Pardina, J. M., Morrison, K., Newhouse, S., Pinto, S., Pulit, S., Robberecht, W., Shaw, P., Shaw, C., Sproviero, W., Tazelaar, G., Van Damme, P., van den Berg, L., van Eijk, K., van Es, M., van Vugt, J., Veldink, J., Zatz, M., Bauer, D. C., Twine, N. A., Rogaeva, E., Zinman, L., Brice, A., Goutman, S. A., Feldman, E. L., Gibson, S. B., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H., Trojanowski, J. Q., Brown R.H., J., van den Berg, L. H., Veldink, J. H., Stone, D. J., Tienari, P., Chiò, A., Shaw, C. E., Traynor, B. J. & Landers, J. E., 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

ITALSGEN consortium, Mar 21 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consortium, ITALSGEN consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium & Caponnetto, C., Mar 21 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

consortium, ITALSGEN., Nicolas, A., Kenna, K. P., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., Murphy, N. A., van Vugt, J. J. F. A., Geiger, J. T., Van der Spek, R. A., Pliner, H. A., Shankaracharya, N., Smith, B. N. & 31 others, Marangi, G., Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., Mora, G., Calvo, A., Mazzini, L., Riva, N., Mandrioli, J., Caponnetto, C., Battistini, S., Volanti, P., La Bella, V., Conforti, F. L., Borghero, G., Messina, S., Simone, I. L., Trojsi, F., Salvi, F., Logullo, F. O., D'Alfonso, S., Lauria, G., Tiloca, C., Comi, G. P., Cereda, C., Taroni, F., Ratti, A., Gellera, C. & Silani, V., Mar 21 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice

Pagliarani, S., Lucchiari, S., Ulzi, G., Ripolone, M., Violano, R., Fortunato, F., Bordoni, A., Corti, S., Moggio, M., Bresolin, N. & Comi, G. P., 2018, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1864, 10, p. 3407-3417

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

Investigation of new morpholino oligomers to increase survival motor neuron protein levels in spinal muscular atrophy

Ramirez, A., Crisafulli, S. G., Rizzuti, M., Bresolin, N., Comi, G. P., Corti, S. & Nizzardo, M., Jan 6 2018, In : International Journal of Molecular Sciences. 19, 1, 167.

Research output: Contribution to journalArticle

In Vivo Transient and Partial Cell Reprogramming to Pluripotency as a Therapeutic Tool for Neurodegenerative Diseases

Tamanini, S., Comi, G. P. & Corti, S., 2018, In : Molecular Neurobiology. 55, 8, p. 6850-6862 13 p.

Research output: Contribution to journalArticle

MicroRNA expression analysis identifies a subset of downregulated miRNAs in ALS motor neuron progenitors

Rizzuti, M., Filosa, G., Melzi, V., Calandriello, L., Dioni, L., Bollati, V., Bresolin, N., Comi, G. P., Barabino, S., Nizzardo, M. & Corti, S., Dec 1 2018, In : Scientific Reports. 8, 1, 10105.

Research output: Contribution to journalArticle

Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy

Monzio Compagnoni, G., Kleiner, G., Bordoni, A., Fortunato, F., Ronchi, D., Salani, S., Guida, M., Corti, C., Pichler, I., Bergamini, C., Fato, R., Pellecchia, M. T., Vallelunga, A., Del Sorbo, F., Elia, A., Reale, C., Garavaglia, B., Mora, G., Albanese, A., Cogiamanian, F. & 6 others, Ardolino, G., Bresolin, N., Corti, S., Comi, G. P., Quinzii, C. M. & Di Fonzo, A., Dec 1 2018, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1864, 12, p. 3588-3597 10 p.

Research output: Contribution to journalArticle

Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy

Monzio Compagnoni, G., Kleiner, G., Samarani, M., Aureli, M., Faustini, G., Bellucci, A., Ronchi, D., Bordoni, A., Garbellini, M., Salani, S., Fortunato, F., Frattini, E., Abati, E., Bergamini, C., Fato, R., Tabano, S., Miozzo, M., Serratto, G., Passafaro, M., Deleidi, M. & 7 others, Silipigni, R., Nizzardo, M., Bresolin, N., Comi, G. P., Corti, S., Quinzii, C. M. & Di Fonzo, A., Nov 13 2018, In : Stem Cell Reports. 11, 5, p. 1185-1198 14 p.

Research output: Contribution to journalArticle

Novel Lys215Asn mutation in an Italian family with Thomsen myotonia

Mantero, V., Lucchiari, S., Balgera, R., Comi, G. P., Salmaggi, A. & Rigamonti, A., 2018, In : Neurological Sciences. 39, 8, p. 1491-1492 2 p.

Research output: Contribution to journalArticle