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

Research Output

Filter
Article
2020
Open Access

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

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

2019

Can intestinal pseudo-obstruction drive recurrent stroke-like episodes in late-onset MELAS syndrome? A case report and review of the literature

Gagliardi, D., Mauri, E., Magri, F., Velardo, D., Meneri, M., Abati, E., Brusa, R., Faravelli, I., Piga, D., Ronchi, D., Triulzi, F., Peverelli, L., Sciacco, M., Bresolin, N., Comi, G. P., Corti, S. & Govoni, A., Jan 1 2019, In : Frontiers in Neurology. 10, JAN, 38.

Research output: Contribution to journalArticle

Open Access
2018

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

Ripolone, M., Violano, R., Ronchi, D., Mondello, S., Nascimbeni, A., Colombo, I., Fagiolari, G., Bordoni, A., Fortunato, F., Lucchini, V., Simona, S., Filosto, M., Musumeci, O., Tonin, P., Mongini, T., Previtali, S., Morandi, L., Angelini, C., Mora, M., Sandri, M. & 4 others, Sciacco, M., Toscano, A., Comi, G. P. & Moggio, M., 2018, In : Neuropathology and Applied Neurobiology. 44, 5, p. 449-462

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

2017

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Feichtinger, R. G., Oláhová, M., Kishita, Y., Garone, C., Kremer, L. S., Yagi, M., Uchiumi, T., Jourdain, A. A., Thompson, K., D'Souza, A. R., Kopajtich, R., Alston, C. L., Koch, J., Sperl, W., Mastantuono, E., Strom, T. M., Wortmann, S. B., Meitinger, T., Pierre, G., Chinnery, P. F. & 19 others, Chrzanowska-Lightowlers, Z. M., Lightowlers, R. N., DiMauro, S., Calvo, S. E., Mootha, V. K., Moggio, M., Sciacco, M., Comi, G. P., Ronchi, D., Murayama, K., Ohtake, A., Rebelo-Guiomar, P., Kohda, M., Kang, D., Mayr, J. A., Taylor, R. W., Okazaki, Y., Minczuk, M. & Prokisch, H., 2017, In : American Journal of Human Genetics. 101, 4, p. 525-538

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

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

2016

A case report with the peculiar concomitance of 2 different genetic syndromes

Lerario, A., Colombo, I., Milani, D., Peverelli, L., Villa, L., Del Bo, R., Sciacco, M., Comi, G. P., Esposito, S. & Moggio, M., 2016, In : Medicine (United States). 95, 49, p. e5567

Research output: Contribution to journalArticle

Coexistence of VHL disease and CPT2 deficiency: A case report

Ferrara, A. M., Sciacco, M., Zovato, S., Rizzati, S., Colombo, I., Boaretto, F., Moggio, M. & Opocher, G., 2016, In : Cancer Research and Treatment. 48, 4, p. 1438-1442 5 p.

Research output: Contribution to journalArticle

Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation

Colombo, I., Pagliarani, S., Testolin, S., Cinnante, C. M., Fagiolari, G., Ciscato, P., Bordoni, A., Fortunato, F., Magri, F., Previtali, S. C., Velardo, D., Sciacco, M., Comi, G. P. & Moggio, M., 2016, In : Journal of Neurology, Neurosurgery and Psychiatry. 87, 7, p. 797-800 4 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

2015

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

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy

Peverelli, L., Testolin, S., Villa, L., D'Amico, A., Petrini, S., Favero, C., Magri, F., Morandi, L., Mora, M., Mongini, T., Bertini, E., Sciacco, M., Comi, G. P. & Moggio, M., Nov 24 2015, In : Neurology. 85, 21, p. 1886-1893 8 p.

Research output: Contribution to journalArticle

Impaired muscle mitochondrial biogenesis and myogenesis in spinal muscular atrophy

Ripolone, M., Ronchi, D., Violano, R., Vallejo, D., Fagiolari, G., Barca, E., Lucchini, V., Colombo, I., Villa, L., Berardinelli, A., Balottin, U., Morandi, L., Mora, M., Bordoni, A., Fortunato, F., Corti, S., Parisi, D., Toscano, A., Sciacco, M., Di Mauro, S. & 2 others, Comi, G. P. & Moggio, M., Jun 1 2015, In : JAMA Neurology. 72, 6, p. 666-675 10 p.

Research output: Contribution to journalArticle

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

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

2014

Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family

Colombo, I., Pagliarani, S., Testolin, S., Salsano, E., Napoli, L. M., Bordoni, A., Salani, S., D'Adda, E., Morandi, L., Farina, L., Magri, F., Riva, M., Prelle, A., Sciacco, M., Comi, G. P. & Moggio, M., Sep 15 2014, In : Neuromuscular Disorders. 25, 5, p. 423-428 6 p.

Research output: Contribution to journalArticle

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease

Nicholls, T. J., Zsurka, G., Peeva, V., Schöler, S., Szczesny, R. J., Cysewski, D., Reyes, A., Kornblum, C., Sciacco, M., Moggio, M., Dziembowski, A., Kunz, W. S. & Minczuk, M., Dec 1 2014, In : Human Molecular Genetics. 23, 23, p. 6147-6162 16 p.

Research output: Contribution to journalArticle

Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3: A case report and review of the literature

Levy, R. J., Ríos, P. G., Akman, H. O., Sciacco, M., Vivo, D. C. D. & Dimauro, S., Oct 1 2014, In : Journal of Child Neurology. 29, 10, p. NP105-NP110

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

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

2013

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Kornblum, C., Nicholls, T. J., Haack, T. B., Schöler, S., Peeva, V., Danhauser, K., Hallmann, K., Zsurka, G., Rorbach, J., Iuso, A., Wieland, T., Sciacco, M., Ronchi, D., Comi, G. P., Moggio, M., Quinzii, C. M., Dimauro, S., Calvo, S. E., Mootha, V. K., Klopstock, T. & 5 others, Strom, T. M., Meitinger, T., Minczuk, M., Kunz, W. S. & Prokisch, H., Feb 2013, In : Nature Genetics. 45, 2, p. 214-219 6 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

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

2012

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

Magri, F., Bo, R. D., D'Angelo, M. G., Sciacco, M., Gandossini, S., Govoni, A., Napoli, L., Ciscato, P., Fortunato, F., Brighina, E., Bonato, S., Bordoni, A., Lucchini, V., Corti, S., Moggio, M., Bresolin, N. & Comi, G. P., Nov 2012, In : Neuromuscular Disorders. 22, 11, p. 934-943 10 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

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

2011

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

Magri, F., Del Bo, R., D'Angelo, M. G., Govoni, A., Ghezzi, S., Gandossini, S., Sciacco, M., Ciscato, P., Bordoni, A., Tedeschi, S., Fortunato, F., Lucchini, V., Cereda, M., Corti, S., Moggio, M., Bresolin, N. & Comi, G. P., Mar 11 2011, In : BMC Medical Genetics. 12, 37.

Research output: Contribution to journalArticle

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: A case report

Ronchi, D., Cosi, A., Tonduti, D., Orcesi, S., Bordoni, A., Fortunato, F., Rizzuti, M., Sciacco, M., Collotta, M., Cagdas, S., Capovilla, G., Moggio, M., Berardinelli, A., Veggiotti, P. & Comi, G. P., Jul 12 2011, In : BMC Neurology. 11, 85.

Research output: Contribution to journalArticle

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

Magri, F., Govoni, A., D'Angelo, M. G., Del Bo, R., Ghezzi, S., Sandra, G., Turconi, A. C., Sciacco, M., Ciscato, P., Bordoni, A., Tedeschi, S., Fortunato, F., Lucchini, V., Bonato, S., Lamperti, C., Coviello, D., Torrente, Y., Corti, S., Moggio, M., Bresolin, N. & 1 others, Comi, G. P., Sep 2011, In : Journal of Neurology. 258, 9, p. 1610-1623 14 p.

Research output: Contribution to journalArticle

Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington's disease

Ciammola, A., Sassone, J., Sciacco, M., Mencacci, N. E., Ripolone, M., Bizzi, C., Colciago, C., Moggio, M., Parati, G., Silani, V. & Malfatto, G., Jan 2011, In : Movement Disorders. 26, 1, p. 130-137 8 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

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

2010

IgD multiple myeloma paraproteinemia as a cause of myositis

Colombo, I., Fruguglietti, M. E., Napoli, L., Sciacco, M., Tagliaferri, E., Della Volpe, A., Crugnola, V., Bresolin, N., Moggio, M. & Prelle, A., 2010, In : Neurology Research International. 2010, 808474.

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

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

2009

Aphasic and visual aura with increased vasogenic leakage: An atypical migrainosus status

Lanfranconi, S., Corti, S., Bersano, A., Costa, A., Prelle, A., Sciacco, M., Bresolin, N. & Ghione, I., Oct 15 2009, In : Journal of the Neurological Sciences. 285, 1-2, p. 227-229 3 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