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Mitochondrial disease heterogeneity: A prognostic challenge

Moggio, M., Colombo, I., Peverelli, L., Villa, L., Xhani, R., Testolin, S., Di Mauro, S. & Sciacco, M., Oct 1 2015, In : Acta Myologica. 33, 2, p. 86-93 8 p.

Research output: Contribution to journalArticle

Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations: The confirmation in two new cases

Crimi, M., Galbiati, S., Sciacco, M., Bordoni, A., Natali, M. G., Raimondi, M., Bresolin, N. & Comi, G. P., Apr 2004, In : Mitochondrion. 3, 5, p. 279-283 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

"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 respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis

Crugnola, V., Lamperti, C., Lucchini, V., Ronchi, D., Peverelli, L., Prelle, A., Sciacco, M., Bordoni, A., Fassone, E., Fortunato, F., Corti, S., Silani, V., Bresolin, N., Di Mauro, S., Comi, G. P. & Moggio, M., Jul 2010, In : Archives of Neurology. 67, 7, p. 849-854 6 p.

Research output: Contribution to journalArticle

Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: A study of 56 patients

Santorelli, F. M., Sciacco, M., Tanji, K., Shanske, S., Vu, T. H., Golzi, V., Griggs, R. C., Mendell, J. R., Hays, A. P., Bertorini, T. E., Pestronk, A., Bonilla, E. & DiMauro, S., Jun 1996, In : Annals of Neurology. 39, 6, p. 789-795 7 p.

Research output: Contribution to journalArticle

Muscle coenzyme Q10 level in statin-related myopathy

Lamperti, C., Naini, A. B., Lucchini, V., Prelle, A., Bresolin, N., Moggio, M., Sciacco, M., Kaufmann, P. & DiMauro, S., Nov 2005, In : Archives of Neurology. 62, 11, p. 1709-1712 4 p.

Research output: Contribution to journalArticle

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

Ronchi, D., Di Fonzo, A., Lin, W., Bordoni, A., Liu, C., Fassone, E., Pagliarani, S., Rizzuti, M., Zheng, L., Filosto, M., Ferrò, M. T., Ranieri, M., Magri, F., Peverelli, L., Li, H., Yuan, Y. C., Corti, S., Sciacco, M., Moggio, M., Bresolin, N. & 2 others, Shen, B. & Comi, G. P., Feb 7 2013, In : American Journal of Human Genetics. 92, 2, p. 293-300 8 p.

Research output: Contribution to journalArticle

Open Access

New morphological approaches to the study of mitochondrial encephalomyopathies

Bonilla, E., Sciacco, M., Tanji, K., Sparaco, M., Petruzzella, V. & Moraes, C. T., 1992, In : Brain Pathology. 2, 2, p. 113-119 7 p.

Research output: Contribution to journalArticle

New mutations in TK2 gene associated with mitochondrial DNA depletion

Galbiati, S., Bordoni, A., Papadimitriou, D., Toscano, A., Rodolico, C., Katsarou, E., Sciacco, M., Garufi, A., Prelle, A., Aguennouz, MH., Bonsignore, M., Crimi, M., Martinuzzi, A., Bresolin, N., Papadimitriou, A. & Comi, G. P., Mar 2006, In : Pediatric Neurology. 34, 3, p. 177-185 9 p.

Research output: Contribution to journalArticle

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

Ronchi, D., Garone, C., Bordoni, A., Gutierrez Rios, P., Calvo, S. E., Ripolone, M., Ranieri, M., Rizzuti, M., Villa, L., Magri, F., Corti, S., Bresolin, N., Mootha, V. K., Moggio, M., Dimauro, S., Comi, G. P. & Sciacco, M., 2012, In : Brain. 135, 11, p. 3404-3415 12 p.

Research output: Contribution to journalArticle

Non-alcoholic beriberi, Wernicke encephalopathy and long-term eating disorder: case report and a mini-review

Mantero, V., Rifino, N., Costantino, G., Farina, A., Pozzetti, U., Sciacco, M., Ripolone, M., Bianchi, G., Salmaggi, A. & Rigamonti, A., Jan 1 2020, (Accepted/In press) In : Eating and Weight Disorders.

Research output: Contribution to journalArticle

Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome

Papadimitriou, A., Comi, G. P., Hadjigeorgiou, G. M., Bordoni, A., Sciacco, M., Napoli, L., Prelle, A., Moggio, M., Fagiolari, G., Bresolin, N., Salani, S., Anastasopoulos, I., Giassakis, G., Divari, R. & Scarlato, G., Oct 1998, In : Neurology. 51, 4, p. 1086-1092 7 p.

Research output: Contribution to journalArticle

Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patients

Chen, X., Bonilla, E., Sciacco, M. & Schon, E. A., May 24 1995, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1271, 1, p. 229-233 5 p.

Research output: Contribution to journalArticle

Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions

Moraes, C. T., Sciacco, M., Ricci, E., Tengan, C. H., Hao, H., Bonilla, E., Schon, E. A. & DiMauro, S., 1995, In : Muscle and Nerve. 18, SUPPL. 3

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

POLG1 mutations and stroke like episodes: A distinct clinical entity rather than an atypical MELAS syndrome

Cheldi, A., Ronchi, D., Bordoni, A., Bordo, B., Lanfranconi, S., Bellotti, M. G., Corti, S., Lucchini, V., Sciacco, M., Moggio, M., Baron, P., Comi, G. P., Colombo, A. & Bersano, A., Jan 15 2013, In : BMC Neurology. 13, 8.

Research output: Contribution to journalArticle

Purkinje cell cox deficiency and mtdna depletion in an animal model of spinocerebellar ataxia type 1

Ripolone, M., Lucchini, V., Ronchi, D., Fagiolari, G., Bordoni, A., Fortunato, F., Mondello, S., Bonato, S., Meregalli, M., Torrente, Y., Corti, S., Comi, G. P., Moggio, M. & Sciacco, M., Jan 1 2018, In : Journal of Neuroscience Research. 96, 9, p. 1576-1585 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

Remarkable infidelity of polymerase γA associated with mutations in POLG1 exonuclease domain

Del Bo, R., Bordoni, A., Sciacco, M., Di Fonzo, A., Galbiati, S., Crimi, M., Bresolin, N. & Comi, G. P., Oct 14 2003, In : Neurology. 61, 7, p. 903-908 6 p.

Research output: Contribution to journalArticle

Retrospective study of a large population of patients affected with mitochondrial disorders: Clinical, morphological and molecular genetic evaluation

Sciacco, M., Prelle, A., Comi, G. P., Napoli, L., Battistel, A., Bresolin, N., Tancredi, L., Lamperti, C., Bordoni, A., Fagiolari, G., Ciscato, P., Chiveri, L., Perini, M. P., Fortunato, F., Adobbati, L., Messina, S., Toscano, A., Martinelli-Boneschi, F., Papadimitriou, A., Scarlato, G. & 1 others, Moggio, M., 2001, In : Journal of Neural Transmission. 108, 8-9, p. 778-788 11 p.

Research output: Contribution to journalArticle

Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation.

Sciacco, M., Prelle, A., Comi, G. P., Napoli, L., Battistel, A., Bresolin, N., Tancredi, L., Lamperti, C., Bordoni, A., Fagiolari, G., Ciscato, P., Chiveri, L., Perini, M. P., Fortunato, F., Adobbati, L., Messina, S., Toscano, A., Martinelli-Boneschi, F., Papadimitriou, A., Scarlato, G. & 1 others, Moggio, M., Sep 2001, In : Journal of Neurology. 248, 9, p. 778-788 11 p.

Research output: Contribution to journalArticle

Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels

Prelle, A., Tancredi, L., Sciacco, M., Chiveri, L., Comi, G. P., Battistel, A., Bazzi, P., Boneschi, F. M., Bagnardi, V., Ciscato, P., Bordoni, A., Fortunato, F., Strazzer, S., Bresolin, N., Scarlato, G. & Moggio, M., 2002, In : Journal of Neurology. 249, 3, p. 305-311 7 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

Sarcoglycan deficiency in a large Italian population of myopathic patients

Prelle, A., Comi, G. P., Tancredi, L., Rigoletto, C., Ciscato, P., Fortunato, F., Nesti, S., Sciacco, M., Robotti, M., Bazzi, P., Felisari, G., Moggio, M. & Scarlato, G., Nov 1998, In : Acta Neuropathologica. 96, 5, p. 509-514 6 p.

Research output: Contribution to journalArticle

Schizophreniform disorder with cerebrospinal fluid PCR positivity for herpes simplex virus type 1

Chiveri, L., Sciacco, M. & Prelle, A., 2003, In : European Neurology. 50, 3, p. 182-183 2 p.

Research output: Contribution to journalArticle

Severe acute multineuropathy in Churg-Strauss syndrome in a patient with a history of melanoma

Fruguglietti, M. E., Napoli, L., Sciacco, M., Ripolone, M., Serafini, M., Grimoldi, N., Bresolin, N., Moggio, M. & Prelle, A., 2009, In : Clinical Neuropathology. 28, 2, p. 125-128 4 p.

Research output: Contribution to journalArticle

Severe polyneuropathy in a patient with Churg-Strauss syndrome

Bazzi, P., Tancredi, L., Scarpini, E., Messina, S., Sciacco, M., Livraghi, S., Vanoli, M., Prelle, A., Scarlato, G. & Moggio, M., Jun 2000, In : Journal of the Peripheral Nervous System. 5, 2, p. 106-110 5 p.

Research output: Contribution to journalArticle

Steroid-responsive Hashimoto encephalopathy mimicking Creutzfeldt-Jakob disease

Santoro, D., Colombo, I., Ghione, I., Peverelli, L., Bresolin, N., Sciacco, M. & Prelle, A., Aug 2011, In : Neurological Sciences. 32, 4, p. 719-722 4 p.

Research output: Contribution to journalArticle

Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction

Sciacco, M., Gasparo-Rippa, P., Vu, T. H., Tanji, K., Shanske, S., Mendell, J. R., Schon, E. A., DiMauro, S. & Bonilla, E., 1998, In : Muscle and Nerve. 21, 11, p. 1374-1381 8 p.

Research output: Contribution to journalArticle

Sural nerve immunoreactivity for nerve growth factor receptor in a case of localized hypertrophic neuropathy

Sciacco, M., Scarpini, E., Baron, P. L., Doronzo, R., Moggio, M., Passerini, D. & Scarlato, G., Apr 1992, In : Acta Neuropathologica. 83, 5, p. 547-553 7 p.

Research output: Contribution to journalArticle

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

Magri, F., Nigro, V., Angelini, C., Mongini, T., Mora, M., Moroni, I., Toscano, A., D'angelo, M. G., Tomelleri, G., Siciliano, G., Ricci, G., Bruno, C., Corti, S., Musumeci, O., Tasca, G., Ricci, E., Monforte, M., Sciacco, M., Fiorillo, C., Gandossini, S. & 13 others, Minetti, C., Morandi, L., Savarese, M., Di Fruscio, G., Semplicini, C., Pegoraro, E., Govoni, A., Brusa, R., Del Bo, R., Ronchi, D., Moggio, M., Bresolin, N. & Comi, G. P., Jan 1 2017, In : Muscle and Nerve. 55, 1, p. 55-68 14 p.

Research output: Contribution to journalArticle

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

Magri, F., Nigro, V., Angelini, C., Mongini, T., Mora, M., Moroni, I., Toscano, A., D'angelo, M. G., Tomelleri, G., Siciliano, G., Ricci, G., Bruno, C., Corti, S., Musumeci, O., Tasca, G., Ricci, E., Monforte, M., Sciacco, M., Fiorillo, C., Gandossini, S. & 13 others, Minetti, C., Morandi, L., Savarese, M., Fruscio, G. D., Semplicini, C., Pegoraro, E., Govoni, A., Brusa, R., Del Bo, R., Ronchi, D., Moggio, M., Bresolin, N. & Comi, G. P., 2017, In : Muscle and Nerve. 55, 1, p. 55-68 14 p.

Research output: Contribution to journalArticle

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

Magri, F., Nigro, V., Angelini, C., Mongini, T., Mora, M., Moroni, I., Toscano, A., D'angelo, M. G., Tomelleri, G., Siciliano, G., Ricci, G., Bruno, C., Corti, S., Musumeci, O., Tasca, G., Ricci, E., Monforte, M., Sciacco, M., Fiorillo, C., Gandossini, S. & 13 others, Minetti, C., Morandi, L., Savarese, M., Fruscio, G. D., Semplicini, C., Pegoraro, E., Govoni, A., Brusa, R., Del Bo, R., Ronchi, D., Moggio, M., Bresolin, N. & Comi, G. P., 2017, In : Muscle and Nerve. 55, 1, p. 55-68 14 p.

Research output: Contribution to journalArticle

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

Magri, F., Nigro, V., Angelini, C., Mongini, T., Mora, M., Moroni, I., Toscano, A., D'angelo, M. G., Tomelleri, G., Siciliano, G., Ricci, G., Bruno, C., Corti, S., Musumeci, O., Tasca, G., Ricci, E., Monforte, M., Sciacco, M., Fiorillo, C., Gandossini, S. & 13 others, Minetti, C., Morandi, L., Savarese, M., Fruscio, G. D., Semplicini, C., Pegoraro, E., Govoni, A., Brusa, R., Del Bo, R., Ronchi, D., Moggio, M., Bresolin, N. & Comi, G. P., 2017, In : Muscle and Nerve. 55, 1, p. 55-68 14 p.

Research output: Contribution to journalArticle

The m.12316G>A mutation in the mitochondrial tRNALeu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment

Ronchi, D., Virgilio, R., Bordoni, A., Fassone, E., Sciacco, M., Ciscato, P., Moggio, M., Govoni, A., Corti, S., Bresolin, N. & Comi, G. P., May 15 2010, In : Journal of the Neurological Sciences. 292, 1-2, p. 107-110 4 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

The novel mitochondrial tRNA Asn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

Ronchi, D., Sciacco, M., Bordoni, A., Raimondi, M., Ripolone, M., Fassone, E., Di Fonzo, A., Rizzuti, M., Ciscato, P., Cosi, A., Servida, M., Moggio, M., Corti, S., Bresolin, N. & Comi, G. P., Mar 2012, In : European Journal of Human Genetics. 20, 3, p. 357-360 4 p.

Research output: Contribution to journalArticle

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

Kalko, S. G., Paco, S., Jou, C., Rodríguez, M. A., Meznaric, M., Rogac, M., Jekovec-Vrhovsek, M., Sciacco, M., Moggio, M., Fagiolari, G., De Paepe, B., De Meirleir, L., Ferrer, I., Roig-Quilis, M., Munell, F., Montoya, J., López-Gallardo, E., Ruiz-Pesini, E., Artuch, R., Montero, R. & 5 others, Torner, F., Nascimento, A., Ortez, C., Colomer, J. & Jimenez-Mallebrera, C., Feb 1 2014, In : BMC Genomics. 15, 1, 91.

Research output: Contribution to journalArticle

Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia

Ronchi, D., Fassone, E., Bordoni, A., Sciacco, M., Lucchini, V., Di Fonzo, A., Rizzuti, M., Colombo, I., Napoli, L., Ciscato, P., Moggio, M., Cosi, A., Collotta, M., Corti, S., Bresolin, N. & Comi, G. P., Sep 15 2011, In : Journal of the Neurological Sciences. 308, 1-2, p. 173-176 4 p.

Research output: Contribution to journalArticle

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation

Ronchi, D., Bordoni, A., Cosi, A., Rizzuti, M., Fassone, E., Di Fonzo, A., Servida, M., Sciacco, M., Collotta, M., Ronzoni, M., Lucchini, V., Mattioli, M., Moggio, M., Bresolin, N., Corti, S. & Comi, G. P., Aug 26 2011, In : Biochemical and Biophysical Research Communications. 412, 2, p. 245-248 4 p.

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., 2020, In : European Journal of Neurology. 27, 4, p. 709-715

Research output: Contribution to journalArticle

Women with pregnancy-related polymyositis and high serum CK levels in the newborn

Messina, S., Fagiolari, G., Lamperti, C., Cavaletti, G., Prelle, A., Scarlato, G., Bresolin, M., Moggio, M. & Sciacco, M., Feb 12 2002, In : Neurology. 58, 3, p. 482-484 3 p.

Research output: Contribution to journalArticle