1978 …2019

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

2019

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Flex, E., Martinelli, S., Van Dijck, A., Ciolfi, A., Cecchetti, S., Coluzzi, E., Pannone, L., Andreoli, C., Radio, F. C., Pizzi, S., Carpentieri, G., Bruselles, A., Catanzaro, G., Pedace, L., Miele, E., Carcarino, E., Ge, X., Chijiwa, C., Lewis, M. E. S., Meuwissen, M. & 40 others, Kenis, S., Van der Aa, N., Larson, A., Brown, K., Wasserstein, M. P., Skotko, B. G., Begtrup, A., Person, R., Karayiorgou, M., Roos, J. L., Van Gassen, K. L., Koopmans, M., Bijlsma, E. K., Santen, G. W. E., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Hoffer, M. J. V., Lalani, S. R., Streff, H., Craigen, W. J., Graham, B. H., van den Elzen, A. P. M., Kamphuis, D. J., Õunap, K., Reinson, K., Pajusalu, S., Wojcik, M. H., Viberti, C., Di Gaetano, C., Bertini, E., Petrucci, S., De Luca, A., Rota, R., Ferretti, E., Matullo, G., Dallapiccola, B., Sgura, A., Walkiewicz, M., Kooy, R. F. & Tartaglia, M., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 493-508 16 p.

Research output: Contribution to journalArticle

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Flex, E., Martinelli, S., Van Dijck, A., Ciolfi, A., Cecchetti, S., Coluzzi, E., Pannone, L., Andreoli, C., Radio, F. C., Pizzi, S., Carpentieri, G., Bruselles, A., Catanzaro, G., Pedace, L., Miele, E., Carcarino, E., Ge, X., Chijiwa, C., Lewis, M. E. S., Meuwissen, M. & 40 others, Kenis, S., Van der Aa, N., Larson, A., Brown, K., Wasserstein, M. P., Skotko, B. G., Begtrup, A., Person, R., Karayiorgou, M., Roos, J. L., Van Gassen, K. L., Koopmans, M., Bijlsma, E. K., Santen, G. W. E., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Hoffer, M. J. V., Lalani, S. R., Streff, H., Craigen, W. J., Graham, B. H., van den Elzen, A. P. M., Kamphuis, D. J., Õunap, K., Reinson, K., Pajusalu, S., Wojcik, M. H., Viberti, C., Di Gaetano, C., Bertini, E., Petrucci, S., De Luca, A., Rota, R., Ferretti, E., Matullo, G., Dallapiccola, B., Sgura, A., Walkiewicz, M., Kooy, R. F. & Tartaglia, M., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 493-508 16 p.

Research output: Contribution to journalArticle

A clinical diagnostic algorithm for early onset cerebellar ataxia

Brandsma, R., Verschuuren-Bemelmans, C. C., Amrom, D., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic-Sreckovic, V., Brouwer, O. F., Bürk, K., Catsman-Berrevoets, C. E., Craiu, D., de Coo, I. F. M., Gburek, J., Kennedy, C., de Koning, T. J., Kremer, H. P. H., Kumar, R., Macaya, A., Micalizzi, A. & 14 others, Mirabelli-Badenier, M., Nemeth, A., Nuovo, S., Poll-The, B., Lerman-Sagie, T., Steinlin, M., Synofzik, M., Tijssen, M. A. J., Vasco, G., Willemsen, M. A. A. P., Zanni, G., Valente, E. M., Boltshauser, E. & Sival, D. A., 2019, In : European Journal of Paediatric Neurology. 23, 5, p. 692-706 15 p.

Research output: Contribution to journalArticle

A clinical diagnostic algorithm for early onset cerebellar ataxia

Brandsma, R., Verschuuren-Bemelmans, C. C., Amrom, D., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic-Sreckovic, V., Brouwer, O. F., Bürk, K., Catsman-Berrevoets, C. E., Craiu, D., de Coo, I. F. M., Gburek, J., Kennedy, C., de Koning, T. J., Kremer, H. P. H., Kumar, R., Macaya, A., Micalizzi, A. & 14 others, Mirabelli-Badenier, M., Nemeth, A., Nuovo, S., Poll-The, B., Lerman-Sagie, T., Steinlin, M., Synofzik, M., Tijssen, M. A. J., Vasco, G., Willemsen, M. A. A. P., Zanni, G., Valente, E. M., Boltshauser, E. & Sival, D. A., Aug 10 2019, In : European Journal of Paediatric Neurology.

Research output: Contribution to journalArticle

Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

Zanni, G., De Magistris, P., Nardella, M., Bellacchio, E., Barresi, S., Sferra, A., Ciolfi, A., Motta, M., Lue, H., Moreno-Andres, D., Tartaglia, M., Bertini, E. & Antonin, W., Feb 11 2019, In : Cerebellum.

Research output: Contribution to journalArticle

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

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 1 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

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

Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

Zanni, G., De Magistris, P., Nardella, M., Bellacchio, E., Barresi, S., Sferra, A., Ciolfi, A., Motta, M., Lue, H., Moreno-Andres, D., Tartaglia, M., Bertini, E. & Antonin, W., Jun 2019, In : Cerebellum. 18, 3, p. 433-434 2 p.

Research output: Contribution to journalArticle

Diagnosis of 'possible' mitochondrial disease: an existential crisis

Parikh, S., Karaa, A., Goldstein, A., Bertini, E. S., Chinnery, P. F., Christodoulou, J., Cohen, B. H., Davis, R. L., Falk, M. J., Fratter, C., Horvath, R., Koenig, M. K., Mancuso, M., McCormack, S., McCormick, E. M., McFarland, R., Nesbitt, V., Schiff, M., Steele, H., Stockler, S. & 5 others, Sue, C., Tarnopolsky, M., Thorburn, D. R., Vockley, J. & Rahman, S., Mar 2019, In : Journal of Medical Genetics. 56, 3, p. 123-130 8 p.

Research output: Contribution to journalArticle

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review

Galosi, S., Barca, E., Carrozzo, R., Schirinzi, T., Quinzii, C. M., Lieto, M., Vasco, G., Zanni, G., Di Nottia, M., Galatolo, D., Filla, A., Bertini, E., Santorelli, F. M., Leuzzi, V., Haas, R., Hirano, M. & Friedman, J., Nov 1 2019, In : Parkinsonism and Related Disorders. 68, p. 8-16 9 p.

Research output: Contribution to journalArticle

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Groeneweg, S., Peeters, R. P., Moran, C., Stoupa, A., Auriol, F., Tonduti, D., Dica, A., Paone, L., Rozenkova, K., Malikova, J., van der Walt, A., de Coo, I. F. M., McGowan, A., Lyons, G., Aarsen, F. K., Barca, D., van Beynum, I. M., van der Knoop, M. M., Jansen, J., Manshande, M. & 26 others, Lunsing, R. J., Nowak, S., den Uil, C. A., Zillikens, M. C., Visser, F. E., Vrijmoeth, P., de Wit, M. C. Y., Wolf, N. I., Zandstra, A., Ambegaonkar, G., Singh, Y., de Rijke, Y. B., Medici, M., Bertini, E. S., Depoorter, S., Lebl, J., Cappa, M., De Meirleir, L., Krude, H., Craiu, D., Zibordi, F., Oliver Petit, I., Polak, M., Chatterjee, K., Visser, T. J. & Visser, W. E., Sep 2019, In : The Lancet Diabetes and Endocrinology. 7, 9, p. 695-706 12 p.

Research output: Contribution to journalArticle

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation

Stregapede, F., Travaglini, L., Rebelo, A. P., Cintra, V. P., Bellacchio, E., Bosco, L., Alfieri, P., Pro, S., Zuchner, S., Bertini, E. & Nicita, F., 2019, In : Clinical Genetics. 97, 3, p. 521-526 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

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 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

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

Garau, J., Cavallera, V., Valente, M., Tonduti, D., Sproviero, D., Zucca, S., Battaglia, D., Battini, R., Bertini, E., Cappanera, S., Chiapparini, L., Crasà, C., Crichiutti, G., Dalla Giustina, E., D'Arrigo, S., De Giorgis, V., De Simone, M., Galli, J., La Piana, R., Messana, T. & 19 others, Moroni, I., Nardocci, N., Panteghini, C., Parazzini, C., Pichiecchio, A., Pini, A., Ricci, F., Saletti, V., Salvatici, E., Santorelli, F. M., Sartori, S., Tinelli, F., Uggetti, C., Veneselli, E., Zorzi, G., Garavaglia, B., Fazzi, E., Orcesi, S. & Cereda, C., May 26 2019, In : Journal of Clinical Medicine. 8, 5

Research output: Contribution to journalArticle

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

Garau, J., Cavallera, V., Valente, M., Tonduti, D., Sproviero, D., Zucca, S., Battaglia, D., Battini, R., Bertini, E., Cappanera, S., Chiapparini, L., Crasà, C., Crichiutti, G., Dalla Giustina, E., D'Arrigo, S., De Giorgis, V., De Simone, M., Galli, J., La Piana, R., Messana, T. & 19 others, Moroni, I., Nardocci, N., Panteghini, C., Parazzini, C., Pichiecchio, A., Pini, A., Ricci, F., Saletti, V., Salvatici, E., Santorelli, F. M., Sartori, S., Tinelli, F., Uggetti, C., Veneselli, E., Zorzi, G., Garavaglia, B., Fazzi, E., Orcesi, S. & Cereda, C., May 26 2019, In : Journal of Clinical Medicine. 8, 5

Research output: Contribution to journalArticle

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

Saoura, M., Powell, C. A., Kopajtich, R., Alahmad, A., Al-Balool, H. H., Albash, B., Alfadhel, M., Alston, C. L., Bertini, E., Bonnen, P., Bratkovic, D., Carrozzo, R., Donati, M. A., Nottia, M. D., Ghezzi, D., Goldstein, A., Haan, E., Horvath, R., Hughes, J., Invernizzi, F. & 13 others, Lamantea, E., Lucas, B., Pinnock, K-G., Pujantell, M., Rahman, S., Rebelo-Guiomar, P., Santra, S., Verrigni, D., McFarland, R., Prokisch, H., Taylor, R. W., Levinger, L. & Minczuk, M., May 2 2019, In : Human Mutation.

Research output: Contribution to journalArticle

Nrf2 Induction Re-establishes a Proper Neuronal Differentiation Program in Friedreich's Ataxia Neural Stem Cells

La Rosa, P., Russo, M., D'Amico, J., Petrillo, S., Aquilano, K., Lettieri-Barbato, D., Turchi, R., Bertini, E. S. & Piemonte, F., 2019, In : Frontiers in Cellular Neuroscience. 13, p. 356

Research output: Contribution to journalArticle

Nrf2 Induction Re-establishes a Proper Neuronal Differentiation Program in Friedreich’s Ataxia Neural Stem Cells

La Rosa, P., Russo, M., D’Amico, J., Petrillo, S., Aquilano, K., Lettieri-Barbato, D., Turchi, R., Bertini, E. S. & Piemonte, F., Jul 31 2019, In : Frontiers in Cellular Neuroscience. 13, 356.

Research output: Contribution to journalArticle

Open Access

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

Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile

Alvarez, K., Suarez, B., Palomino, M. A., Hervias, C., Calcagno, G., Martínez-Jalilie, M., Lozano-Arango, A., Lillo, S., Haro, M., Cortés, F., Pantoja, S., Chahin, A., Orellana, P., Bevilacqua, J. A., Bertini, E. & Castiglioni, C., Jul 29 2019, In : Arquivos de Neuro-Psiquiatria. 77, 7, p. 470-477 8 p.

Research output: Contribution to journalArticle

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum

Mendes, M. I., Green, L. M. C., Bertini, E., Tonduti, D., Aiello, C., Smith, D., Salsano, E., Beerepoot, S., Hertecant, J., von Spiczak, S., Livingston, J. H., Emrick, L., Fraser, J., Russell, L., Bernard, G., Magri, S., Di Bella, D., Taroni, F., Koenig, M. K., Moroni, I. & 12 others, Cappuccio, G., Brunetti-Pierri, N., Rhee, J., Mendelsohn, B. A., Helbig, I., Helbig, K., Muhle, H., Ismayl, O., Vanderver, A. L., Salomons, G. S., van der Knaap, M. S. & Wolf, N. I., 2019, In : Annals of Clinical and Translational Neurology. 7, 1, p. 83-93 11 p.

Research output: Contribution to journalArticle

Open Access

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

Del Dotto, V., Ullah, F., Di Meo, I., Magini, P., Gusic, M., Maresca, A., Caporali, L., Palombo, F., Tagliavini, F., Baugh, E. H., Macao, B., Szilagyi, Z., Peron, C., Gustafson, M. A., Khan, K., La Morgia, C., Barboni, P., Carbonelli, M., Valentino, M. L., Liguori, R. & 27 others, Shashi, V., Sullivan, J., Nagaraj, S., El-Dairi, M., Iannaccone, A., Cutcutache, I., Bertini, E., Carrozzo, R., Emma, F., Diomedi-Camassei, F., Zanna, C., Armstrong, M., Page, M., Stong, N., Boesch, S., Kopajtich, R., Wortmann, S., Sperl, W., Davis, E. E., Copeland, W. C., Seri, M., Falkenberg, M., Prokisch, H., Katsanis, N., Tiranti, V., Pippucci, T. & Carelli, V., 2019, In : Journal of Clinical Investigation. 130, 1, p. 108-125 18 p.

Research output: Contribution to journalArticle

Systemic activation of Nrf2 pathway in Parkinson's disease

Petrillo, S., Schirinzi, T., Di Lazzaro, G., D'Amico, J., Colona, V. L., Bertini, E., Pierantozzi, M., Mari, L., Mercuri, N. B., Piemonte, F. & Pisani, A., Jan 1 2019, (Accepted/In press) In : Movement Disorders.

Research output: Contribution to journalArticle

Systemic activation of Nrf2 pathway in Parkinson's disease

Petrillo, S., Schirinzi, T., Di Lazzaro, G., D'Amico, J., Colona, V. L., Bertini, E., Pierantozzi, M., Mari, L., Mercuri, N. B., Piemonte, F. & Pisani, A., Jan 1 2019, In : Movement Disorders.

Research output: Contribution to journalArticle

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