1978 …2020

Research output per year

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Research Output

2019

Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy

Kahn-Kirby, A. H., Amagata, A., Maeder, C. I., Mei, J. J., Sideris, S., Kosaka, Y., Hinman, A., Malone, S. A., Bruegger, J. J., Wang, L., Kim, V., Shrader, W. D., Hoff, K. G., Latham, J. C., Ashley, E. A., Wheeler, M. T., Bertini, E., Carrozzo, R., Martinelli, D., Dionisi-Vici, C. & 9 others, Chapman, K. A., Enns, G. M., Gahl, W., Wolfe, L., Saneto, R. P., Johnson, S. C., Trimmer, J. K., Klein, M. B. & Holst, C. R., Mar 28 2019, In : PLoS One. 14, 3, p. e0214250

Research output: Contribution to journalArticle

An observational study of functional abilities in infants, children, and adults with type 1 SMA

Italian EAP working Group, Aug 21 2018, In : Neurology. 91, 8, p. e696-e703 8 p.

Research output: Contribution to journalArticle

A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder

Graziola, F., Stregapede, F., Travaglini, L., Garone, G., Verardo, M., Bosco, L., Pro, S., Bertini, E., Curatolo, P., Vigevano, F. & Capuano, A., Dec 7 2018, In : Parkinsonism and Related Disorders. 3 p.

Research output: Contribution to journalArticle

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS

Signes, A., Cerutti, R., Dickson, A. S., Benincá, C., Hinchy, E. C., Ghezzi, D., Carrozzo, R., Bertini, E., Murphy, M. P., Nathan, J. A., Viscomi, C., Fernandez-Vizarra, E. & Zeviani, M., Dec 14 2018, In : EMBO Molecular Medicine. 21 p.

Research output: Contribution to journalArticle

ATP1A3-related epileptic encephalopathy responding to ketogenic diet

Schirinzi, T., Graziola, F., Cusmai, R., Fusco, L., Nicita, F., Elia, M., Travaglini, L., Bertini, E., Curatolo, P., Vigevano, F. & Capuano, A., May 2018, In : Brain and Development. 40, 5, p. 433-438 6 p.

Research output: Contribution to journalArticle

A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia

Vicario, M., Zanni, G., Vallese, F., Santorelli, F., Grinzato, A., Cieri, D., Berto, P., Frizzarin, M., Lopreiato, R., Zonta, F., Ferro, S., Sandre, M., Marin, O., Ruzzene, M., Bertini, E., Zanotti, G., Brini, M., Calì, T. & Carafoli, E., Jul 2018, In : Neurobiology of Disease. 115, p. 157-166 10 p.

Research output: Contribution to journalArticle

Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations

Schirinzi, T., Graziola, F., Nicita, F., Travaglini, L., Stregapede, F., Valeriani, M., Curatolo, P., Bertini, E., Vigevano, F. & Capuano, A., Aug 2018, In : Cerebellum. 17, 4, p. 489-493 5 p.

Research output: Contribution to journalArticle

Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome

Sharkia, R., Wierenga, K. J., Kessel, A., Azem, A., Bertini, E., Carrozzo, R., Torraco, A., Goffrini, P., Berti, C. C., McCormick, M. E., Plecko, B., Klein, A., Abela, L., Hengel, H., Schöls, L., Shalev, S., Khayat, M., Mahajnah, M. & Spiegel, R., Dec 27 2018, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticle

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement

Dabaj, I., Carlier, R. Y., Gómez-Andrés, D., Neto, O. A., Bertini, E., D'amico, A., Fattori, F., PéRéon, Y., Castiglioni, C., Rodillo, E., Catteruccia, M., Guimarães, J. B., Oliveira, A. S. B., Reed, U. C., Mesrob, L., Lechner, D., Boland, A., Deleuze, J-F., Malfatti, E., Bonnemann, C. & 6 others, Laporte, J., Romero, N., Felter, A., Quijano-Roy, S., Moreno, C. A. M. & Zanoteli, E., Aug 2018, In : Muscle and Nerve. 58, 2, p. 224-234 11 p.

Research output: Contribution to journalArticle

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis

Catania, A., Ardissone, A., Verrigni, D., Legati, A., Reyes, A., Lamantea, E., Diodato, D., Tonduti, D., Imperatore, V., Pinto, A. M., Moroni, I., Bertini, E., Robinson, A., Carrozzo, R., Zeviani, M. & Ghezzi, D., May 2018, In : Journal of Human Genetics. 63, 5, p. 563-568 6 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

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Garibaldi, M., Fattori, F., Bortolotti, C. A., Brochier, G., Labasse, C., Verardo, M., Servian-Morilla, E., Gibellini, L., Pinti, M., Di Rocco, G., Raffa, S., Pennisi, E. M., Bertini, E. S., Paradas, C., Romero, N. B. & Antonini, G., Sep 13 2018, In : Acta neuropathologica communications. 6, 1, p. 94

Research output: Contribution to journalArticle

Corrigendum to “Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia” [Clin. Neurol. Neurosurg. 168 (May) (2018) 60–63] (S0303846718300933) (10.1016/j.clineuro.2018.02.042))

Coarelli, G., Romano, S., Travaglini, L., Ferraldeschi, M., Nicita, F., Spadaro, M., Fornasiero, A., Frontali, M., Salvetti, M., Bertini, E. & Ristori, G., Sep 1 2018, In : Clinical Neurology and Neurosurgery. 172, 1 p.

Research output: Contribution to journalComment/debate

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy

Sferra, A., Fattori, F., Rizza, T., Flex, E., Bellacchio, E., Bruselles, A., Petrini, S., Cecchetti, S., Teson, M., Restaldi, F., Ciolfi, A., Santorelli, F. M., Zanni, G., Barresi, S., Castiglioni, C., Tartaglia, M. & Bertini, E., Jun 1 2018, In : Human Molecular Genetics. 27, 11, p. 1892-1904 13 p.

Research output: Contribution to journalArticle

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study

Trivisano, M., Pietrafusa, N., Terracciano, A., Marini, C., Mei, D., Darra, F., Accorsi, P., Battaglia, D., Caffi, L., Canevini, M. P., Cappelletti, S., Cesaroni, E., de Palma, L., Costa, P., Cusmai, R., Giordano, L., Ferrari, A., Freri, E., Fusco, L., Granata, T. & 20 others, Martino, T., Mastrangelo, M., Bova, S. M., Parmeggiani, L., Ragona, F., Sicca, F., Striano, P., Specchio, L. M., Tondo, I., Zambrelli, E., Zamponi, N., Zanus, C., Boniver, C., Vecchi, M., Avolio, C., Dalla Bernardina, B., Bertini, E., Guerrini, R., Vigevano, F. & Specchio, N., Dec 2018, In : Epilepsia. 59, 12, p. 2260-2271 12 p.

Research output: Contribution to journalArticle

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study

Trivisano, M., Pietrafusa, N., Terracciano, A., Marini, C., Mei, D., Darra, F., Accorsi, P., Battaglia, D., Caffi, L., Canevini, M. P., Cappelletti, S., Cesaroni, E., de Palma, L., Costa, P., Cusmai, R., Giordano, L., Ferrari, A., Freri, E., Fusco, L., Granata, T. & 20 others, Martino, T., Mastrangelo, M., Bova, S. M., Parmeggiani, L., Ragona, F., Sicca, F., Striano, P., Specchio, L. M., Tondo, I., Zambrelli, E., Zamponi, N., Zanus, C., Boniver, C., Vecchi, M., Avolio, C., Dalla Bernardina, B., Bertini, E., Guerrini, R., Vigevano, F. & Specchio, N., Dec 1 2018, In : Epilepsia. 59, 12, p. 2260-2271 12 p.

Research output: Contribution to journalArticle

Encephalopathies with intracranial calcification in children: Clinical and genetic characterization

Tonduti, D., Panteghini, C., Pichiecchio, A., Decio, A., Carecchio, M., Reale, C., Moroni, I., Nardocci, N., Campistol, J., Garcia-Cazorla, A., Perez Duenas, B., Zorzi, G., Ardissone, A., Granata, T., Freri, E., Zibordi, F., Ragona, F., D'Arrigo, S., Saletti, V., Esposito, S. & 22 others, Pantaleoni, C., Riva, D., De Giorgis, V., Cereda, C., Valente, M. L., Sproviero, D., Poo Arguelles, M. P., Estupina, C. F., Sans Fito, A. M., Martorell Sampol, L., Del Mar O'Callaghan Gordo, M., Ortez Gonzalez, C. I., Gonzalez Alvarez, V., Garcia-Segarra, N., Fusco, C., Bertini, E., Diodato, D., Fazzi, E., Galli, J., Chiapparini, L., Garavaglia, B. & Orcesi, S., Aug 16 2018, In : Orphanet Journal of Rare Diseases. 13, 1, 135.

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

ISCA1 Mutation In A Patient With Infantile-Onset Leukodystrophy Causes Defects In Mitochondrial [4Fe-4S] Proteins

Torraco, A., Stehling, O., Stümpfig, C., Rösser, R., De Rasmo, D., Fiermonte, G., Verrigni, D., Rizza, T., Vozza, A., Di Nottia, M., Diodato, D., Martinelli, D., Piemonte, F., Dionisi-Vici, C., Bertini, E., Lill, R. & Carrozzo, R., Aug 1 2018, In : Human Molecular Genetics. p. 2739–2754 16 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

Longitudinal gait assessment in a stiff person syndrome

Schirinzi, T., Sancesario, A., Romano, A., Favetta, M., Gobbi, M., Valeriani, M., Bertini, E. S., Castelli, E., Vasco, G., Petrarca, M. & Della Bella, G., Dec 2018, In : International Journal of Rehabilitation Research. 41, 4, p. 377-379 3 p.

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, p. 72-77 6 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

Natural history of a cohort of ABCD1 variants female carriers

Schirinzi, T., Vasco, G., Aiello, C., Rizzo, C., Sancesario, A., Romano, A., Favetta, M., Petrarca, M., Paone, L., Castelli, E., Bertini, E. S. & Cappa, M., Oct 8 2018, In : European Journal of Neurology. p. 326-332 7 p.

Research output: Contribution to journalArticle

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

Castiglioni, C., Fattori, F., Udd, B., de Los Angeles Avaria, M., Suarez, B., D'Amico, A., Malandrini, A., Carrozzo, R., Verrigni, D., Bertini, E. & Tasca, G., Mar 2018, In : European Journal of Human Genetics. 26, 3, p. 367-373 7 p.

Research output: Contribution to journalArticle

Non-invasive Focal Mechanical Vibrations Delivered by Wearable Devices: An Open-Label Pilot Study in Childhood Ataxia

Schirinzi, T., Romano, A., Favetta, M., Sancesario, A., Burattini, R., Summa, S., Della Bella, G., Castelli, E., Bertini, E., Petrarca, M. & Vasco, G., 2018, In : Frontiers in Neurology. 9, p. 849

Research output: Contribution to journalArticle

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia

Coarelli, G., Romano, S., Travaglini, L., Ferraldeschi, M., Nicita, F., Spadaro, M., Fornasiero, A., Frontali, M., Salvetti, M., Bertini, E. & Ristori, G., May 2018, In : Clinical Neurology and Neurosurgery. 168, p. 60-63 4 p.

Research output: Contribution to journalArticle

Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia

Nicita, F., Tasca, G., Nardella, M., Bellacchio, E., Camponeschi, I., Vasco, G., Schirinzi, T., Bertini, E. & Zanni, G., Aug 2018, In : Cerebellum. 17, 4, p. 499-503 5 p.

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

Italian EAP working Group, Jul 2018, In : Neuromuscular Disorders. 28, 7, p. 582-585 4 p.

Research output: Contribution to journalArticle

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop

Koene, S., van Bon, L., Bertini, E., Jimenez-Moreno, C., van der Giessen, L., de Groot, I., McFarland, R., Parikh, S., Rahman, S., Wood, M., Zeman, J., Janssen, A. & Smeitink, J., Jul 19 2018, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticle

Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review

Schirinzi, T., Garone, G., Travaglini, L., Vasco, G., Galosi, S., Rios, L., Castiglioni, C., Barassi, C., Battaglia, D., Gambardella, M. L., Cantonetti, L., Graziola, F., Marras, C. E., Castelli, E., Bertini, E., Capuano, A. & Leuzzi, V., Nov 16 2018, In : Parkinsonism and Related Disorders.

Research output: Contribution to journalReview article

Serum uric acid in Friedreich Ataxia

Schirinzi, T., Vasco, G., Zanni, G., Petrillo, S., Piemonte, F., Castelli, E. & Bertini, E. S., Apr 2018, In : Clinical Biochemistry. 54, p. 139-141 3 p.

Research output: Contribution to journalArticle

SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia

Nicita, F., Schirinzi, T., Stregapede, F., Vasco, G., Bertini, E. & Travaglini, L., Dec 18 2018, In : European Journal of Paediatric Neurology.

Research output: Contribution to journalArticle

Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data

Pane, M., Coratti, G., Brogna, C., Mazzone, E. S., Mayhew, A., Fanelli, L., Messina, S., D'Amico, A., Catteruccia, M., Scutifero, M., Frosini, S., Lanzillotta, V., Colia, G., Cavallaro, F., Rolle, E., De Sanctis, R., Forcina, N., Petillo, R., Barp, A., Gardani, A. & 19 others, Pini, A., Monaco, G., D'Angelo, M. G., Zanin, R., Vita, G. L., Bruno, C., Mongini, T., Ricci, F., Pegoraro, E., Bello, L., Berardinelli, A., Battini, R., Sansone, V., Albamonte, E., Baranello, G., Bertini, E., Politano, L., Sormani, M. P. & Mercuri, E., 2018, In : PLoS One. 13, 6, p. e0199223

Research output: Contribution to journalArticle

Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data

Pane, M., Coratti, G., Brogna, C., Mazzone, E. S., Mayhew, A., Fanelli, L., Messina, S., Amico, A. D., Catteruccia, M., Scutifero, M., Frosini, S., Lanzillotta, V., Colia, G., Cavallaro, F., Rolle, E., De Sanctis, R., Forcina, N., Petillo, R., Barp, A., Gardani, A. & 19 others, Pini, A., Monaco, G., Angelo, M. G. D., Zanin, R., Vita, G. L., Bruno, C., Mongini, T., Ricci, F., Pegoraro, E., Bello, L., Berardinelli, A., Battini, R., Sansone, V., Albamonte, E., Baranello, G., Bertini, E., Politano, L., Sormani, M. P. & Mercuri, E., 2018, In : PLoS One. 13, 6

Research output: Contribution to journalArticle

Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data

Pane, M., Coratti, G., Brogna, C., Mazzone, E. S., Mayhew, A., Fanelli, L., Messina, S., Amico, A. D., Catteruccia, M., Scutifero, M., Frosini, S., Lanzillotta, V., Colia, G., Cavallaro, F., Rolle, E., De Sanctis, R., Forcina, N., Petillo, R., Barp, A., Gardani, A. & 19 others, Pini, A., Monaco, G., Angelo, M. G. D., Zanin, R., Vita, G. L., Bruno, C., Mongini, T., Ricci, F., Pegoraro, E., Bello, L., Berardinelli, A., Battini, R., Sansone, V., Albamonte, E., Baranello, G., Bertini, E., Politano, L., Sormani, M. P. & Mercuri, E., 2018, In : PLoS One. 13, 6

Research output: Contribution to journalArticle

2017

Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging

Petrini, S., Borghi, R., D'Oria, V., Restaldi, F., Moreno, S., Novelli, A., Bertini, E. & Compagnucci, C., May 1 2017, In : Aging. 9, 5, p. 1453-1469 17 p.

Research output: Contribution to journalArticle