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2020

Awareness of rare and genetic neurological diseases among italian neurologist. A national survey

Mancuso, M., Filosto, M., Lamperti, C., Musumeci, O., Santorelli, F. M., Servidei, S., Valente, E. M., Zeviani, M., Mancardi, G., Tedeschi, G. & Federico, A., Jan 1 2020, (Accepted/In press) In : Neurological Sciences.

Research output: Contribution to journalArticle

2019

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

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

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

New missense variants of NDUFA11 associated with late-onset myopathy

Peverelli, L., Legati, A., Lamantea, E., Nasca, A., Lerario, A., Galimberti, V., Ghezzi, D. & Lamperti, C., Jan 1 2019, In : Muscle and Nerve. 60, 2, p. E11-E14

Research output: Contribution to journalArticle

2018

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

Civiletto, G., Dogan, S. A., Cerutti, R., Fagiolari, G., Moggio, M., Lamperti, C., Benincá, C., Viscomi, C. & Zeviani, M., 2018, In : EMBO Molecular Medicine. 10, 11, e8799.

Research output: Contribution to journalArticle

Retinal dysfunction characterizes subtypes of dominant optic atrophy

Cascavilla, M. L., Parisi, V., Triolo, G., Ziccardi, L., Borrelli, E., Di Renzo, A., Balducci, N., Lamperti, C., Bianchi Marzoli, S., Darvizeh, F., Sadun, A. A., Carelli, V., Bandello, F. & Barboni, P., 2018, In : Acta Ophthalmologica. 96, 2, p. e156-e163

Research output: Contribution to journalArticle

2017

AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome

Di Meo, I., Marchet, S., Lamperti, C., Zeviani, M. & Viscomi, C., Oct 1 2017, In : Gene Therapy. 24, 10, p. 661-667 7 p.

Research output: Contribution to journalArticle

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy

Legati, A., Reyes, A., Ceccatelli Berti, C., Stehling, O., Marchet, S., Lamperti, C., Ferrari, A., Robinson, A. J., Mühlenhoff, U., Lill, R., Zeviani, M., Goffrini, P. & Ghezzi, D., Dec 1 2017, In : Journal of Medical Genetics. 54, 12, p. 815-824 10 p.

Research output: Contribution to journalArticle

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations

Liao, C., Ashley, N., Diot, A., Morten, K., Phadwal, K., Williams, A., Fearnley, I., Rosser, L., Lowndes, J., Fratter, C., Ferguson, D. J. P., Vay, L., Quaghebeur, G., Moroni, I., Bianchi, S., Lamperti, C., Downes, S. M., Sitarz, K. S., Flannery, P. J., Carver, J. & 13 others, Dombi, E., East, D., Laura, M., Reilly, M. M., Mortiboys, H., Prevo, R., Campanella, M., Daniels, M. J., Zeviani, M., Yu-Wai-Man, P., Simon, A. K., Votruba, M. & Poulton, J., Jan 10 2017, In : Neurology. 88, 2, p. 131-142 12 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

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

Patient affected by beta-propeller protein-associated neurodegeneration: A therapeutic attempt with iron vhelation therapy

Fonderico, M., Laudisi, M., Andreasi, N. G., Bigoni, S., Lamperti, C., Panteghini, C., Garavaglia, B., Carecchio, M., Emanuele, E. A., Forni, G. L. & Granieri, E., Aug 21 2017, In : Frontiers in Neurology. 8, AUG, 385.

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

Transcription Factor EB Controls Metabolic Flexibility during Exercise

Mansueto, G., Armani, A., Viscomi, C., Viscomi, C., D'Orsi, L., De Cegli, R., Polishchuk, E. V., Lamperti, C., Di Meo, I., Romanello, V., Romanello, V., Marchet, S., Saha, P. K., Zong, H., Zong, H., Blaauw, B., Solagna, F., Tezze, C., Grumati, P., Bonaldo, P. & 10 others, Pessin, J. E., Zeviani, M., Zeviani, M., Sandri, M., Sandri, M., Sandri, M., Ballabio, A., Ballabio, A., Ballabio, A. & Ballabio, A., Jan 10 2017, In : Cell Metabolism. 25, 1, p. 182-196 15 p.

Research output: Contribution to journalArticle

2016

Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients

Lamperti, C., Invernizzi, F., Solazzi, R., Freri, E., Carella, F., Zeviani, M., Zibordi, F., Fusco, C., Zorzi, G., Granata, T., Garavaglia, B. & Nardocci, N., Jan 1 2016, In : European Journal of Paediatric Neurology. 20, 1, p. 152-157 6 p.

Research output: Contribution to journalArticle

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Wilson, I. J., Carling, P. J., Alston, C. L., Floros, V. I., Pyle, A., Hudson, G., Sallevelt, S. C. E. H., Lamperti, C., Carelli, V., Bindoff, L. A., Samuels, D. C., Wonnapinij, P., Zeviani, M., Taylor, R. W., Smeets, H. J. M., Horvath, R. & Chinnery, P. F., Mar 1 2016, In : Human Molecular Genetics. 25, 5, p. 1031-1041 11 p.

Research output: Contribution to journalArticle

Mitochondrial m.3243A > G mutation and carotid artery dissection

Mancuso, M., Montano, V., Orsucci, D., Peverelli, L., Caputi, L., Gambaro, P., Siciliano, G. & Lamperti, C., Dec 1 2016, In : Molecular Genetics and Metabolism Reports. 9, p. 12-14 3 p.

Research output: Contribution to journalArticle

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E. S., Carelli, V., Comi, G. P., Federico, A., Minetti, C., Moggio, M. G., Mongini, T., Tonin, P., Toscano, A., Bruno, C., Ienco, E. C., Filosto, M., Lamperti, C., Diodato, D., Moroni, I., Musumeci, O., Pegoraro, E. & 7 others, Spinazzi, M., Ahmed, N., Sciacco, M., Vercelli, L., Ardissone, A., Zeviani, M. & Siciliano, G., Apr 1 2016, In : Neuromuscular Disorders. 26, 4-5, p. 272-276 5 p.

Research output: Contribution to journalArticle

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E. S., Carelli, V., Comi, G. P., Federico, A., Minetti, C., Moggio, M. G., Mongini, T., Tonin, P., Toscano, A., Bruno, C., Ienco, E. C., Filosto, M., Lamperti, C., Diodato, D., Moroni, I., Musumeci, O., Pegoraro, E. & 7 others, Spinazzi, M., Ahmed, N., Sciacco, M., Vercelli, L., Ardissone, A., Zeviani, M. & Siciliano, G., Apr 1 2016, In : Neuromuscular Disorders. 26, 4-5, p. 272-276 5 p.

Research output: Contribution to journalArticle

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E. S., Carelli, V., Comi, G. P., Federico, A., Minetti, C., Moggio, M. G., Mongini, T., Tonin, P., Toscano, A., Bruno, C., Ienco, E. C., Filosto, M., Lamperti, C., Diodato, D., Moroni, I., Musumeci, O., Pegoraro, E. & 7 others, Spinazzi, M., Ahmed, N., Sciacco, M., Vercelli, L., Ardissone, A., Zeviani, M. & Siciliano, G., Apr 1 2016, In : Neuromuscular Disorders. 26, 4-5, p. 272-276 5 p.

Research output: Contribution to journalArticle

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Federico, A., Minetti, C., Moggio, M., Mongini, T., Tonin, P., Toscano, A., Bruno, C., Ienco, E. C., Filosto, M., Lamperti, C., Diodato, D., Moroni, I., Musumeci, O., Pegoraro, E. & 7 others, Spinazzi, M., Ahmed, N., Sciacco, M., Vercelli, L., Ardissone, A., Zeviani, M. & Siciliano, G., Apr 1 2016, In : Neuromuscular Disorders. 26, 4-5, p. 272-276 5 p.

Research output: Contribution to journalArticle

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

Legati, A., Reyes, A., Nasca, A., Invernizzi, F., Lamantea, E., Tiranti, V., Garavaglia, B., Lamperti, C., Ardissone, A., Moroni, I., Robinson, A., Ghezzi, D. & Zeviani, M., 2016, In : Biochimica et Biophysica Acta - Bioenergetics.

Research output: Contribution to journalArticle

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene

Zanolini, A., Potic, A., Carrara, F., Lamantea, E., Diodato, D., Blasevich, F., Marchet, S., Mora, M., Pallotti, F., Morandi, L., Zeviani, M. & Lamperti, C., Dec 15 2016, In : Molecular Genetics and Metabolism Reports. 10, p. 24-27 4 p.

Research output: Contribution to journalArticle

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Harel, T., Yoon, W. H., Garone, C., Gu, S., Coban-Akdemir, Z., Eldomery, M. K., Posey, J. E., Jhangiani, S. N., Rosenfeld, J. A., Cho, M. T., Fox, S., Withers, M., Brooks, S. M., Chiang, T., Duraine, L., Erdin, S., Yuan, B., Shao, Y., Moussallem, E., Lamperti, C. & 28 others, Donati, M. A., Smith, J. D., McLaughlin, H. M., Eng, C. M., Walkiewicz, M., Xia, F., Pippucci, T., Magini, P., Seri, M., Zeviani, M., Hirano, M., Hunter, J. V., Srour, M., Zanigni, S., Lewis, R. A., Muzny, D. M., Lotze, T. E., Boerwinkle, E., Gibbs, R. A., Hickey, S. E., Graham, B. H., Yang, Y., Buhas, D., Martin, D. M., Potocki, L., Graziano, C., Bellen, H. J. & Lupski, J. R., Oct 6 2016, In : American Journal of Human Genetics. 99, 4, p. 831-845 15 p.

Research output: Contribution to journalArticle

2015

A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy

Bee, L., Nasca, A., Zanolini, A., Cendron, F., d'Adamo, P., Costa, R., Lamperti, C., Celotti, L., Ghezzi, D. & Zeviani, M., Jul 1 2015, In : EMBO Molecular Medicine. 7, 7, p. 918-929 12 p.

Research output: Contribution to journalArticle

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

Brea-Calvo, G., Haack, T. B., Karall, D., Ohtake, A., Invernizzi, F., Carrozzo, R., Kremer, L., Dusi, S., Fauth, C., Scholl-Bürgi, S., Graf, E., Ahting, U., Resta, N., Laforgia, N., Verrigni, D., Okazaki, Y., Kohda, M., Martinelli, D., Freisinger, P., Strom, T. M. & 10 others, Meitinger, T., Lamperti, C., Lacson, A., Navas, P., Mayr, J. A., Bertini, E., Murayama, K., Zeviani, M., Prokisch, H. & Ghezzi, D., Feb 5 2015, In : American Journal of Human Genetics. 96, 2, p. 309-317 9 p.

Research output: Contribution to journalArticle

Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations

Rocca, M. A., Bianchi-Marzoli, S., Messina, R., Cascavilla, M. L., Zeviani, M., Lamperti, C., Milesi, J., Carta, A., Cammarata, G., Leocani, L., Lamantea, E., Bandello, F., Comi, G., Falini, A. & Filippi, M., Mar 21 2015, In : Journal of Neurology. 262, 5, p. 1216-1227 12 p.

Research output: Contribution to journalArticle

Erratum: Redefining phenotypes associated with mitochondrial DNA single deletion (J Neurol, (2015) 262, (1301-1309), DOI 10.1007/s00415-015-7710-y)

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Donati, M. A., Federico, A., Minetti, C., Moggio, M., Mongini, T., Santorelli, F. M., Servidei, S., Tonin, P., Toscano, A., Bruno, C., Bello, L., Ienco, E. C., Cardaioli, E., Catteruccia, M. & 14 others, Da Pozzo, P., Filosto, M., Lamperti, C., Moroni, I., Musumeci, O., Pegoraro, E., Ronchi, D., Sauchelli, D., Scarpelli, M., Sciacco, M., Valentino, M. L., Vercelli, L., Zeviani, M. & Siciliano, G., Dec 1 2015, In : Journal of Neurology. 262, 12, p. 2800 1 p.

Research output: Contribution to journalArticle

Mitochondrial diseases caused by toxic compound accumulation: From etiopathology to therapeutic approaches

Di Meo, I., Lamperti, C. & Tiranti, V., Oct 1 2015, In : EMBO Molecular Medicine. 7, 10, p. 1257-1266 10 p.

Research output: Contribution to journalArticle

Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models

Civiletto, G., Varanita, T., Cerutti, R., Gorletta, T., Barbaro, S., Marchet, S., Lamperti, C., Viscomi, C., Scorrano, L. & Zeviani, M., Jun 2 2015, In : Cell Metabolism. 21, 6, p. 845-854 10 p.

Research output: Contribution to journalArticle

Redefining phenotypes associated with mitochondrial DNA single deletion

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Donati, M. A., Federico, A., Minetti, C., Moggio, M., Mongini, T., Santorelli, F. M., Servidei, S., Tonin, P., Toscano, A., Bruno, C., Bello, L., Caldarazzo Ienco, E., Cardaioli, E., Catteruccia, M. & 14 others, Da Pozzo, P., Filosto, M., Lamperti, C., Moroni, I., Musumeci, O., Pegoraro, E., Ronchi, D., Sauchelli, D., Scarpelli, M., Sciacco, M., Valentino, M. L., Vercelli, L., Zeviani, M. & Siciliano, G., Mar 26 2015, In : Journal of Neurology. 262, 5, p. 1301-1309 9 p.

Research output: Contribution to journalArticle

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

Reyes, A., Melchionda, L., Nasca, A., Carrara, F., Lamantea, E., Zanolini, A., Lamperti, C., Fang, M., Zhang, J., Ronchi, D., Bonato, S., Fagiolari, G., Moggio, M., Ghezzi, D. & Zeviani, M., 2015, In : American Journal of Human Genetics. 97, 1, p. 186-193 8 p.

Research output: Contribution to journalArticle

2014

AAV-mediated liver-specific MPV17 expression restores mtdna levels and prevents diet-induced liver failure

Bottani, E., Giordano, C., Civiletto, G., Di Meo, I., Auricchio, A., Ciusani, E., Marchet, S., Lamperti, C., D'Amati, G., Viscomi, C. & Zeviani, M., Jan 2014, In : Molecular Therapy. 22, 1, p. 10-17 8 p.

Research output: Contribution to journalArticle

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

Melchionda, L., Haack, T. B., Hardy, S., Abbink, T. E. M., Fernandez-Vizarra, E., Lamantea, E., Marchet, S., Morandi, L., Moggio, M., Carrozzo, R., Torraco, A., Diodato, D., Strom, T. M., Meitinger, T., Tekturk, P., Yapici, Z., Al-Murshedi, F., Stevens, R., Rodenburg, R. J., Lamperti, C. & 9 others, Ardissone, A., Moroni, I., Uziel, G., Prokisch, H., Taylor, R. W., Bertini, E., Van Der Knaap, M. S., Ghezzi, D. & Zeviani, M., 2014, In : American Journal of Human Genetics. 95, 3, p. 315-325 11 p.

Research output: Contribution to journalArticle

Myoclonus in mitochondrial disorders

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E., Catteruccia, M., Pegoraro, E., Carelli, V., Valentino, M. L., Comi, G. P., Minetti, C., Bruno, C., Moggio, M., Ienco, E. C., Mongini, T., Vercelli, L., Primiano, G., Servidei, S., Tonin, P., Scarpelli, M., Toscano, A. & 9 others, Musumeci, O., Moroni, I., Uziel, G., Santorelli, F. M., Nesti, C., Filosto, M., Lamperti, C., Zeviani, M. & Siciliano, G., 2014, In : Movement Disorders. 29, 6, p. 722-728 7 p.

Research output: Contribution to journalArticle

NAD+-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease

Cerutti, R., Pirinen, E., Lamperti, C., Marchet, S., Sauve, A. A., Li, W., Leoni, V., Schon, E. A., Dantzer, F., Auwerx, J., Viscomi, C. & Zeviani, M., Jun 3 2014, In : Cell Metabolism. 19, 6, p. 1042-1049 8 p.

Research output: Contribution to journalArticle

Novel (ovario) leukodystrophy related to AARS2 mutations

Dallabona, C., Diodato, D., Kevelam, S. H., Haack, T. B., Wong, L. J., Salomons, G. S., Baruffini, E., Melchionda, L., Mariotti, C., Strom, T. M., Meitinger, T., Prokisch, H., Chapman, K., Colley, A., Rocha, H., Ounap, K., Schiffmann, R., Salsano, E., Savoiardo, M., Hamilton, E. M. & 8 others, Abbink, T. E. M., Wolf, N. I., Ferrero, I., Lamperti, C., Zeviani, M., Vanderver, A., Ghezzi, D. & Van Der Knaap, M. S., Jun 10 2014, In : Neurology. 82, 23, p. 2063-2071 9 p.

Research output: Contribution to journalArticle

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

Brunetti, D., Dusi, S., Giordano, C., Lamperti, C., Morbin, M., Fugnanesi, V., Marchet, S., Fagiolari, G., Sibon, O., Moggio, M., D'Amati, G. & Tiranti, V., 2014, In : Brain. 137, 1, p. 57-68 12 p.

Research output: Contribution to journalArticle

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Donati, A., Minetti, C., Moggio, M., Mongini, T., Servidei, S., Tonin, P., Toscano, A., Uziel, G., Bruno, C., Ienco, E. C., Filosto, M., Lamperti, C., Catteruccia, M., Moroni, I. & 11 others, Musumeci, O., Pegoraro, E., Ronchi, D., Santorelli, F. M., Sauchelli, D., Scarpelli, M., Sciacco, M., Valentino, M. L., Vercelli, L., Zeviani, M. & Siciliano, G., 2014, In : Journal of Neurology. 261, 3, p. 504-510 7 p.

Research output: Contribution to journalArticle

VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

Diodato, D., Melchionda, L., Haack, T. B., Dallabona, C., Baruffini, E., Donnini, C., Granata, T., Ragona, F., Balestri, P., Margollicci, M., Lamantea, E., Nasca, A., Powell, C. A., Minczuk, M., Strom, T. M., Meitinger, T., Prokisch, H., Lamperti, C., Zeviani, M. & Ghezzi, D., 2014, In : Human Mutation. 35, 8, p. 983-989 7 p.

Research output: Contribution to journalArticle

2013

A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation

Saracchi, E., Difrancesco, J. C., Brighina, L., Marzorati, L., Curtò, N. A., Lamperti, C., Carrara, F., Zeviani, M. & Ferrarese, C., Mar 2013, In : Neurological Sciences. 34, 3, p. 407-408 2 p.

Research output: Contribution to journalArticle

Adult-onset leukodystrophies from respiratory chain disorders: Do they exist?

Salsano, E., Farina, L., Lamperti, C., Piscosquito, G., Salerno, F., Morandi, L., Carrara, F., Lamantea, E., Zeviani, M., Uziel, G., Savoiardo, M. & Pareyson, D., Jun 2013, In : Journal of Neurology. 260, 6, p. 1617-1623 7 p.

Research output: Contribution to journalArticle