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Research Output

[43] Cytochemistry and immunocytochemistry of mitochondria in tissue sections

Sciacco, M. & Bonilla, E., 1996, In : Methods in Enzymology. 264, p. 509-517 9 p.

Research output: Contribution to journalArticle

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy

Sciacco, M., Prelle, A., Fagiolari, G., Bordoni, A., Crimi, M., Di Fonzo, A., Ciscato, P., Lamperti, C., D'Adda, E., Jann, S., Bresolin, N., Comi, G. P. & Moggio, M., Dec 15 2005, In : Journal of the Neurological Sciences. 239, 1, p. 21-24 4 p.

Research output: Contribution to journalArticle

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

A collection of 33 novel human mtDNA homoplasmic variants.

Crimi, M., Sciacco, M., Galbiati, S., Bordoni, A., Malferrari, G., Del Bo, R., Biunno, I., Bresolin, N. & Comi, G. P., Nov 2002, In : Human Mutation. 20, 5, p. 409 1 p.

Research output: Contribution to journalArticle

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

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome

Crimi, M., Galbiati, S., Moroni, I., Bordoni, A., Perini, M. P., Lamantea, E., Sciacco, M., Zeviani, M., Biunno, I., Moggio, M., Scarlato, G. & Comi, G. P., Jun 10 2003, In : Neurology. 60, 11, p. 1857-1861 5 p.

Research output: Contribution to journalArticle

A mitochondrial tRNAHis gene mutation causing pigmentary retinopathy and neurosensorial deafness

Crimi, M., Galbiati, S., Perini, M. P., Bordoni, A., Malferrari, G., Sciacco, M., Biunno, I., Strazzer, S., Moggio, M., Bresolin, N. & Comi, G. P., Apr 8 2003, In : Neurology. 60, 7, p. 1200-1203 4 p.

Research output: Contribution to journalArticle

Anionic phospholipids calcium binding sites in Duchenne and murine x- linked muscular dystrophy

Moggio, M., Prelle, A., Fagiolari, G., Checcarelli, N., Sciacco, M., Ciscato, P. & Scarlato, G., 1994, In : Muscle and Nerve. 17, 5, p. 485-488 4 p.

Research output: Contribution to journalArticle

A novel missense adenine nucleotide translocator-1 gene mutation in a greek adPEO family

Napoli, L., Bordoni, A., Zeviani, M., Hadjigeorgiou, G. M., Sciacco, M., Tiranti, V., Terentiou, A., Moggio, M., Papadimitriou, A., Scarlato, G. & Comi, G. P., Dec 26 2001, In : Neurology. 57, 12, p. 2295-2298 4 p.

Research output: Contribution to journalArticle

A novel mitochondrial tRNA(Ile) point mutation in chronic progressive external ophthalmoplegia [5]

Franceschina, L., Salani, S., Bordoni, A., Sciacco, M., Napoli, L., Comi, G. P., Prelle, A., Fortunato, F., Hadjigeorgiou, G. M., Farina, E., Bresolin, N., D'Angelo, M. G. & Scarlato, G., 1998, In : Journal of Neurology. 245, 11, p. 755-758 4 p.

Research output: Contribution to journalArticle

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

Appearance and localization of dystrophin in normal human fetal muscle

Prelle, A., Chianese, L., Moggio, M., Gallanti, A., Sciacco, M., Checcarelli, N., Comi, G., Scarpini, E., Bonilla, E. & Scarlato, G., 1991, In : International Journal of Developmental Neuroscience. 9, 6, p. 607-612 6 p.

Research output: Contribution to journalArticle

A sporadic, atypical case of desminopathy: Morphological and immunological characterization

Prelle, A., Sciacco, M., Comi, G. P., Messina, S., Carpo, M., Ciscato, P., Nobile Orazio, E., Fortunato, F., Mora, G., Bignotti, V., Fagiolari, G., Moggio, M. & Scarlato, G., Jul 2000, In : Clinical Neuropathology. 19, 4, p. 208-212 5 p.

Research output: Contribution to journalArticle

Asymptomatic familial hyperCKemia associated with desmin accumulation in skeletal muscle

Prelle, A., Rigoletto, C., Moggio, M., Sciacco, M., Comi, G. P., Ciscato, P., Fagiolari, G., Rapuzzi, S., Bignotti, V. & Scarlato, G., Sep 1 1996, In : Journal of the Neurological Sciences. 140, 1-2, p. 132-136 5 p.

Research output: Contribution to journalArticle

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

Moraes, C. T., Ciacci, F., Silvestri, G., Shanske, S., Sciacco, M., Hirano, M., Schon, E. A., Bonilla, E. & DiMauro, S., 1993, In : Neuromuscular Disorders. 3, 1, p. 43-50 8 p.

Research output: Contribution to journalArticle

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

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

Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency

Prelle, A., Sciacco, M., Tancredi, L., Fagiolari, G., Comi, G. P., Ciscato, P., Serafini, M., Fortunato, F., Zecca, C., Gallanti, A., Chiveri, L., Bresolin, N., Scarlato, G. & Moggio, M., Jun 1 2003, In : Acta Neuropathologica. 105, 6, p. 537-542 6 p.

Research output: Contribution to journalArticle

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

Clinical manifestations of mitochondrial DNA depletion

Vu, T. H., Sciacco, M., Tanji, K., Nichter, C., Bonilla, E., Chatkupt, S., Maertens, P., Shanske, S., Mendell, J., Koenigsberger, M. R., Sharer, L., Schon, E. A., DiMauro, S. & DeVivo, D. C., Jun 1998, In : Neurology. 50, 6, p. 1783-1790 8 p.

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

Critically ill patients: Immunological evidence of inflammation in muscle biopsy

Bazzi, P., Moggio, M., Prelle, A., Sciacco, M., Messina, S., Barbieri, S., Tonin, P., Tomelleri, G., Battistel, A., Adobbati, L., Checcarelli, N., Veschi, G. & Scarlato, G., Jan 1999, In : Clinical Neuropathology. 18, 1, p. 23-30 8 p.

Research output: Contribution to journalArticle

Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease

Comi, G. P., Bordoni, A., Salani, S., Franceschina, L., Sciacco, M., Prelle, A., Fortunato, F., Zeviani, M., Napoli, L., Bresolin, N., Moggio, M., Ausenda, C. D., Taanman, J. W. & Scarlato, G., Jan 1998, In : Annals of Neurology. 43, 1, p. 110-116 7 p.

Research output: Contribution to journalArticle

Decrease of nerve Na+,K+-ATPase activity in the pathogenesis of human diabetic neuropathy

Scarpini, E., Bianchi, R., Moggio, M., Sciacco, M., Fiori, M. G. & Scarlato, G., Dec 15 1993, In : Journal of the Neurological Sciences. 120, 2, p. 159-167 9 p.

Research output: Contribution to journalArticle

Desmin and Vimentin as markers of regeneration in muscle diseases

Gallanti, A., Prelle, A., Moggio, M., Ciscato, P., Checcarelli, N., Sciacco, M., Comini, A. & Scarlato, G., Dec 1992, In : Acta Neuropathologica. 85, 1, p. 88-92 5 p.

Research output: Contribution to journalArticle

Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy

Sciacco, M., Bonilla, E., Schon, E. A., DiMauro, S. & Moraes, C. T., Jan 1994, In : Human Molecular Genetics. 3, 1, p. 13-19 7 p.

Research output: Contribution to journalArticle

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

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

Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients

Del Bo, R., Bordoni, A., Boneschi, F. M., Crimi, M., Sciacco, M., Bresolin, N., Scarlato, G. & Comi, G. P., Oct 15 2002, In : Journal of the Neurological Sciences. 202, 1-2, p. 85-91 7 p.

Research output: Contribution to journalArticle

Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation: A morphological, genetic and spectroscopic study [4]

Sciacco, M., Prelle, A., D'Adda, E., Lamperti, C., Bordoni, A., Rango, M., Crimi, M., Comi, G. P., Bresolin, N. & Moggio, M., Dec 2003, In : Journal of Neurology. 250, 12, p. 1498-1500 3 p.

Research output: Contribution to journalArticle

Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects

D'Adda, E., Sciacco, M., Fruguglietti, M. E., Crugnola, V., Lucchini, V., Martinelli-Boneschi, F., Zecca, C., Lamperti, C., Comi, G. P., Bresolin, N., Moggio, M. & Prelle, A., Nov 2006, In : Journal of Neurology. 253, 11, p. 1399-1403 5 p.

Research output: Contribution to journalArticle

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

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

Guillain-Barré syndrome associated with high titers of anti-GM1 antibodies

Nobile-Orazio, E., Carpo, M., Meucci, N., Grassi, M. P., Capitani, E., Sciacco, M., Mangoni, A. & Scarlato, G., 1992, In : Journal of the Neurological Sciences. 109, 2, p. 200-206 7 p.

Research output: Contribution to journalArticle

High mutational burden in the mtDNA control region from aged muscles: A single-fiber study

Del Bo, R., Crimi, M., Sciacco, M., Malferrari, G., Bordoni, A., Napoli, L., Prelle, A., Biunno, I., Moggio, M., Bresolin, N., Scarlato, G. & Comi, G. P., Oct 2003, In : Neurobiology of Aging. 24, 6, p. 829-838 10 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

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

Immunolocalization of heat shock proteins in ragged-red fibers of patients with mitochondrial encephalomyopathies

Sparaco, M., Rosoklija, G., Tanji, K., Sciacco, M., Latov, N., DiMauro, S. & Bnilla, E., 1993, In : Neuromuscular Disorders. 3, 1, p. 71-76 6 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

Lack of anionic phospholipid calcium binding sites in Duchenne muscular dystrophy

Moggio, M., Fagiolari, G., Prelle, A., Gallanti, A., Sciacco, M. & Scarlato, G., 1992, In : Muscle and Nerve. 15, 3, p. 325-331 7 p.

Research output: Contribution to journalArticle

Lack of apoptosis in mitochondrial encephalomyopathies

Sciacco, M., Fagiolari, G., Lamperti, C., Messina, S., Bazzi, P., Napoli, L., Chiveri, L., Prelle, A., Comi, G. P., Bresolin, N., Scarlato, G. & Moggio, M., Apr 24 2001, In : Neurology. 56, 8, p. 1070-1074 5 p.

Research output: Contribution to journalArticle

Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 gene

Fagiolari, G., Sciacco, M., Chiveri, L., Lamperti, C., Comi, G. P., Scarlato, G., Moggio, M. & Prelle, A., 2002, In : Muscle and Nerve. 26, 2, p. 265-269 5 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

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., Maria Cinnante, C., Fagiolari, G., Ciscato, P., Bordoni, A., Fortunato, F., Magri, F., Previtali, S. C., Velardo, D., Sciacco, M., Comi, G. P. & Moggio, M., Jul 1 2016, In : Journal of Neurology, Neurosurgery and Psychiatry. 87, 7, p. 797 - 800 4 p.

Research output: Contribution to journalLetter

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

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

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