19962020

Research output per year

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Research Output

2020

Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

La Morgia, C., Maresca, A., Amore, G., Gramegna, L. L., Carbonelli, M., Scimonelli, E., Danese, A., Patergnani, S., Caporali, L., Tagliavini, F., Del Dotto, V., Capristo, M., Sadun, F., Barboni, P., Savini, G., Evangelisti, S., Bianchini, C., Valentino, M. L., Liguori, R., Tonon, C. & 4 others, Giorgi, C., Pinton, P., Lodi, R. & Carelli, V., Dec 1 2020, In : Scientific Reports. 10, 1, 4785.

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., 2020, In : Journal of Clinical Investigation. 130, 1, p. 108-125 18 p.

Research output: Contribution to journalArticle

2019

Hearing dysfunction in a large family affected by dominant optic atrophy (OPA8-related DOA): A human model of hidden auditory neuropathy

Santarelli, R., La Morgia, C., Valentino, M. L., Barboni, P., Monteleone, A., Scimemi, P. & Carelli, V., Jan 1 2019, In : Frontiers in Neuroscience. 13, MAY, 501.

Research output: Contribution to journalArticle

Open Access

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., Sep 2019, In : Annals of Clinical and Translational Neurology. 6, 9, p. 1893-1899 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

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

2018

Cerebral mitochondrial microangiopathy leads to leukoencephalopathy in mitochondrial neurogastrointestinal encephalopathy

Gramegna, L. L., Pisano, A., Testa, C., Manners, D. N., D'Angelo, R., Boschetti, E., Giancola, F., Pironi, L., Caporali, L., Capristo, M., Valentino, M. L., Plazzi, G., Casali, C., Dotti, M. T., Cenacchi, G., Hirano, M., Giordano, C., Parchi, P., Rinaldi, R., De Giorgio, R. & 3 others, Lodi, R., Carelli, V. & Tonon, C., Mar 1 2018, In : American Journal of Neuroradiology. 39, 3, p. 427-434 8 p.

Research output: Contribution to journalArticle

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells

Trifunov, S., Pyle, A., Valentino, M. L., Liguori, R., Yu-Wai-Man, P., Burté, F., Duff, J., Kleinle, S., Diebold, I., Rugolo, M., Horvath, R. & Carelli, V., Dec 1 2018, In : Scientific Reports. 8, 1, 11682.

Research output: Contribution to journalArticle

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy

Caporali, L., Iommarini, L., La Morgia, C., Olivieri, A., Achilli, A., Maresca, A., Valentino, M. L., Capristo, M., Tagliavini, F., Del Dotto, V., Zanna, C., Liguori, R., Barboni, P., Carbonelli, M., Cocetta, V., Montopoli, M., Martinuzzi, A., Cenacchi, G., De Michele, G., Testa, F. & 5 others, Nesti, A., Simonelli, F., Porcelli, A. M., Torroni, A. & Carelli, V., 2018, In : PLoS Genetics. 14, 2, e1007210.

Research output: Contribution to journalArticle

2017

Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation

Terlizzi, R., Valentino, M. L., Bartoletti-Stella, A., Columbaro, M., Piras, S., Stanzani-Maserati, M., Quadri, M. L., Breedveld, G. J., Bonifati, V., Martinelli, P., Parchi, P. & Capellari, S., 2017, In : Movement Disorders.

Research output: Contribution to journalArticle

Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation

Terlizzi, R., Valentino, M. L., Bartoletti-Stella, A., Columbaro, M., Piras, S., Stanzani-Maserati, M., Quadri, M., Breedveld, G. J., Bonifati, V., Martinelli, P., Parchi, P. & Capellari, S., 2017, (Accepted/In press) In : Movement Disorders. 32, 8, p. 1-2 2 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., 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

2016

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

Cao, M., Donà, M., Valentino, M. L., Semplicini, C., Maresca, A., Cassina, M., Torraco, A., Galletta, E., Manfioli, V., Sorarù, G., Carelli, V., Stramare, R., Bertini, E., Carozzo, R., Salviati, L. & Pegoraro, E., 2016, In : Neurogenetics. 17, p. 65-70

Research output: Contribution to journalArticle

Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

Cao, M., Donà, M., Valentino, M. L., Semplicini, C., Maresca, A., Cassina, M., Torraco, A., Galletta, E., Manfioli, V., Sorarù, G., Carelli, V., Stramare, R., Bertini, E. S., Carozzo, R., Salviati, L. & Pegoraro, E., Feb 29 2016, (Accepted/In press) In : Neurogenetics. p. 1 1 p.

Research output: Contribution to journalArticle

Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction

Santarelli, R., Cama, E., Scimemi, P., La Morgia, C., Caporali, L., Valentino, M. L., Liguori, R. & Carelli, V., 2016, In : Brain. 139, 6, p. e34

Research output: Contribution to journalLetter

2015

An inflammatory myopathy unmasks a case of leprosy in an Italian patient

Liguori, R., Terlizzi, R., Giannoccaro, M. P., Amati, A., Foschini, M. P., Parodi, A. & Valentino, M. L., Sep 22 2015, In : Journal of Neurology. 262, 9, p. 2179-2181 3 p.

Research output: Contribution to journalArticle

A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy

Licchetta, L., Bisulli, F., Fietz, M., Valentino, M. L., Morbin, M., Mostacci, B., Oliver, K. L., Berkovic, S. F. & Tinuper, P., Oct 1 2015, In : European Journal of Medical Genetics. 58, 10, p. 540-544 5 p.

Research output: Contribution to journalArticle

Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways

Giordano, L., Deceglie, S., D'Adamo, P., Valentino, M. L., La Morgia, C., Fracasso, F., Roberti, M., Cappellari, M., Petrosillo, G., Ciaravolo, S., Parente, D., Giordano, C., Maresca, A., Iommarini, L., Del Dotto, V., Ghelli, A. M., Salomao, S. R., Berezovsky, A., Belfort, R., Sadun, A. A. & 3 others, Carelli, V., Loguercio Polosa, P. & Cantatore, P., Dec 17 2015, In : Cell Death and Disease. 6, 12, e2021.

Research output: Contribution to journalArticle

Diffusion tensor imaging mapping of brain white matter pathology in mitochondrial optic neuropathies

Manners, D. N., Rizzo, G., La Morgia, C., Tonon, C., Testa, C., Barboni, P., Malucelli, E., Valentino, M. L., Caporali, L., Strobbe, D., Carelli, V. & Lodi, R., Jul 1 2015, In : American Journal of Neuroradiology. 36, 7, p. 1259-1265 7 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

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P. I., Donati, M. A. L., Federico, A., Minetti, C., Moggio, M., Mongini, T., Santorelli, F. M. A., Servidei, S., Tonin, P., Toscano, A., Bruno, C., Bello, L., Ienco, E. C. A., 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. U., Vercelli, L., Zeviani, M. & Siciliano, G., Dec 1 2015, In : Journal of Neurology. 262, 12, p. 2800 1 p.

Research output: Contribution to journalComment/debate

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

Pippucci, T., Maresca, A., Magini, P., Cenacchi, G., Donadio, V., Palombo, F., Papa, V., Incensi, A., Gasparre, G., Valentino, M. L., Preziuso, C., Pisano, A., Ragno, M., Liguori, R., Giordano, C., Tonon, C., Lodi, R., Parmeggiani, A., Carelli, V. & Seri, M., Jun 1 2015, In : EMBO Molecular Medicine. 7, 6, p. 848-858 11 p.

Research output: Contribution to journalArticle

OPA1-related auditory neuropathy: Site of lesion and outcome of cochlear implantation

Santarelli, R., Rossi, R., Scimemi, P., Cama, E., Valentino, M. L., La Morgia, C., Caporali, L., Liguori, R., Magnavita, V., Monteleone, A., Biscaro, A., Arslan, E. & Carelli, V., 2015, In : Brain. 138, 3, p. 563-576 14 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

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

Carelli, V., Musumeci, O., Caporali, L., Zanna, C., La Morgia, C., Del Dotto, V., Porcelli, A. M., Rugolo, M., Valentino, M. L., Iommarini, L., Maresca, A., Barboni, P., Carbonelli, M., Trombetta, C., Valente, E. M., Patergnani, S., Giorgi, C., Pinton, P., Rizzo, G., Tonon, C. & 6 others, Lodi, R., Avoni, P., Liguori, R., Baruzzi, A., Toscano, A. & Zeviani, M., Jul 1 2015, In : Annals of Neurology. 78, 1, p. 21-38 18 p.

Research output: Contribution to journalArticle

2014

A Novel in-Frame 18-bp Microdeletion in MT-CYB Causes a Multisystem Disorder with Prominent Exercise Intolerance

Carossa, V., Ghelli, A., Tropeano, C. V., Valentino, M. L., Iommarini, L., Maresca, A., Caporali, L., La Morgia, C., Liguori, R., Barboni, P., Carbonelli, M., Rizzo, G., Tonon, C., Lodi, R., Martinuzzi, A., De Nardo, V., Rugolo, M., Ferretti, L., Gandini, F., Pala, M. & 4 others, Achilli, A., Olivieri, A., Torroni, A. & Carelli, V., 2014, In : Human Mutation. 35, 8, p. 954-958 5 p.

Research output: Contribution to journalArticle

A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck

Pallotti, F., Binelli, G., Fabbri, R., Valentino, M. L., Vicenti, R., Macciocca, M., Cevoli, S., Baruzzi, A., DiMauro, S. & Carelli, V., May 7 2014, In : PLoS One. 9, 5, e96663.

Research output: Contribution to journalArticle

Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation

Barboni, P., Savini, G., Cascavilla, M. L., Caporali, L., Milesi, J., Borrelli, E., La Morgia, C., Valentino, M. L., Triolo, G., Lembo, A., Carta, A., De Negri, A., Sadun, F., Rizzo, G., Parisi, V., Pierro, L., Bianchi Marzoli, S., Zeviani, M., Sadun, A. A., Bandello, F. & 1 others, Carelli, V., 2014, In : American Journal of Ophthalmology. 158, 3

Research output: Contribution to journalArticle

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

Giordano, C., Iommarini, L., Giordano, L., Maresca, A., Pisano, A., Valentino, M. L., Caporali, L., Liguori, R., Deceglie, S., Roberti, M., Fanelli, F., Fracasso, F., Ross-Cisneros, F. N., D'adamo, P., Hudson, G., Pyle, A., Yu-Wai-Man, P., Chinnery, P. F., Zeviani, M., Salomao, S. R. & 15 others, Berezovsky, A., Belfort, R., Ventura, D. F., Moraes, M., Moraes Filho, M., Barboni, P., Sadun, F., De Negri, A., Sadun, A. A., Tancredi, A., Mancini, M., D'amati, G., Loguercio Polosa, P., Cantatore, P. & Carelli, V., 2014, In : Brain. 137, 2, p. 335-353 19 p.

Research output: Contribution to journalArticle

Erratum: A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck (PLoS ONE (2014) 9:5 (e96663) DOI: 10.1371/journal.pone.0096663)

Pallotti, F., Binelli, G., Fabbri, R., Valentino, M. L., Vicenti, R., Macciocca, M., Cevoli, S., Baruzzi, A., DiMauro, S. & Carelli, V., Dec 12 2014, In : PLoS One. 9, 12, e115961.

Research output: Contribution to journalArticle

Genetic basis of mitochondrial optic neuropathies

Maresca, A., Caporali, L., Strobbe, D., Zanna, C., Malavolta, D., La Morgia, C., Valentino, M. L. & Carelli, V., Mar 1 2014, In : Current Molecular Medicine. 14, 8, p. 985-992 8 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

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

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

Pippucci, T., Parmeggiani, A., Palombo, F., Maresca, A., Angius, A., Crisponi, L., Cucca, F., Liguori, R., Valentino, M. L., Seri, M. & Carelli, V., Dec 16 2013, In : PLoS One. 8, 12, e82154.

Research output: Contribution to journalArticle

Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

Caporali, L., Ghelli, A. M., Iommarini, L., Maresca, A., Valentino, M. L., La Morgia, C., Liguori, R., Zanna, C., Barboni, P., De Nardo, V., Martinuzzi, A., Rizzo, G., Tonon, C., Lodi, R., Calvaruso, M. A., Cappelletti, M., Porcelli, A. M., Achilli, A., Pala, M., Torroni, A. & 1 others, Carelli, V., Mar 2013, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1832, 3, p. 445-452 8 p.

Research output: Contribution to journalArticle

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy

Barboni, P., Valentino, M. L., La Morgia, C., Carbonelli, M., Savini, G., De Negri, A., Simonelli, F., Sadun, F., Caporali, L., Maresca, A., Liguori, R., Baruzzi, A., Zeviani, M. & Carelli, V., 2013, In : Brain. 136, 2

Research output: Contribution to journalArticle

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Minetti, C., Moggio, M., Mongini, T., Servidei, S., Toninc, P., Toscano, A., Uziel, G., Bruno, C., Ienco, E. C., Filosto, M., Lamperti, C., Martinelli, D., Moroni, I., Musumeci, O. & 11 others, Pegoraro, E., Ronchi, D., Santorelli, F. M., Sauchelli, D., Scarpelli, M., Sciacco, M., Spinazzi, M., Valentino, M. L., Vercelli, L., Zeviani, M. & Siciliano, G., May 28 2013, In : Neurology. 80, 22, p. 2049-2054 6 p.

Research output: Contribution to journalArticle

The optic nerve: A "mito-window" on mitochondrial neurodegeneration

Maresca, A., la Morgia, C., Caporali, L., Valentino, M. L. & Carelli, V., Jul 2013, In : Molecular and Cellular Neuroscience. 55, p. 62-76 15 p.

Research output: Contribution to journalArticle

2012

Rare primary mitochondrial DNA mutations and probable synergistic variants in leber's hereditary optic neuropathy

Achilli, A., Iommarini, L., Olivieri, A., Pala, M., Hooshiar Kashani, B., Reynier, P., La Morgia, C., Valentino, M. L., Liguori, R., Pizza, F., Barboni, P., Sadun, F., de Negri, A. M., Zeviani, M., Dollfus, H., Moulignier, A., Ducos, G., Orssaud, C., Bonneau, D., Procaccio, V. & 6 others, Leo-Kottler, B., Fauser, S., Wissinger, B., Amati-Bonneau, P., Torroni, A. & Carelli, V., Aug 3 2012, In : PLoS One. 7, 8, e42242.

Research output: Contribution to journalArticle

Revisiting the issue of mitochondrial dna contentinopticmitochondriopathies

Iommarini, L., Maresca, A., Caporali, L., Valentino, M. L., Liguori, R., Giordano, C. & Carelli, V., Oct 2 2012, In : Neurology. 79, 14, p. 1517-1519 3 p.

Research output: Contribution to journalArticle

Secondary Post-Geniculate Involvement in Leber's Hereditary Optic Neuropathy

Rizzo, G., Tozer, K. R., Tonon, C., Manners, D., Testa, C., Malucelli, E., Valentino, M. L., la Morgia, C., Barboni, P., Randhawa, R. S., Ross-Cisneros, F. N., Sadun, A. A., Carelli, V. & Lodi, R., Nov 27 2012, In : PLoS One. 7, 11, e50230.

Research output: Contribution to journalArticle

2011

A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16

Carelli, V., Schimpf, S., Fuhrmann, N., Valentino, M. L., Zanna, C., Iommarini, L., Papke, M., Schaich, S., Tippmann, S., Baumann, B., Barboni, P., Longanesi, L., Rugolo, M., Ghelli, A., Alavi, M. V., Youle, R. J., Bucchi, L., Carroccia, R., Giannoccaro, M. P., Tonon, C. & 5 others, Lodi, R., Cenacchi, G., Montagna, P., Liguori, R. & Wissinger, B., May 2011, In : Human Molecular Genetics. 20, 10, p. 1893-1905 13 p., ddr071.

Research output: Contribution to journalArticle

Brain diffusion-weighted imaging in Friedreich's ataxia

Rizzo, G., Tonon, C., Valentino, M. L., Manners, D., Fortuna, F., Gellera, C., Pini, A., Ghezzo, A., Baruzzi, A., Testa, C., Malucelli, E., Barbiroli, B., Carelli, V. & Lodi, R., Mar 2011, In : Movement Disorders. 26, 4, p. 705-712 8 p.

Research output: Contribution to journalArticle

Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations

Lodi, R., Tonon, C., Valentino, M. L., Manners, D., Testa, C., Malucelli, E., La Morgia, C., Barboni, P., Carbonelli, M., Schimpf, S., Wissinger, B., Zeviani, M., Baruzzi, A., Liguori, R., Barbiroli, B. & Carelli, V., Jan 2011, In : Archives of Neurology. 68, 1, p. 67-73 7 p.

Research output: Contribution to journalArticle