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Research Output 1992 2018

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1992

Congenital myopathy associated with abnormal accumulation of desmin and dystrophin

Prelle, A., Moggio, M., Comi, G. P., Gallanti, A., Checcarelli, N., Bresolin, N., Ciscato, P., Fortunato, F. & Scarlato, G., 1992, In : Neuromuscular Disorders. 2, 3, p. 169-175 7 p.

Research output: Contribution to journalArticle

Myotonia Congenita
Dystrophin
Desmin
Cytoskeletal Proteins
Actinin

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

Desmin
Vimentin
Regeneration
Muscles
Sarcomeres
1994

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

Muscular Dystrophies
Duchenne Muscular Dystrophy
Phospholipids
Binding Sites
Calcium

Clinical variability in Becker muscular dystrophy: Genetic, biochemical and immunohistochemical correlates

Comi, G. P., Prelle, A., Bresolin, N., Moggio, M., Bardoni, A., Gallanti, A., Vita, G., Toscano, A., Ferro, M. T., Bordoni, A., Fortunato, F., Ciscato, P., Felisari, G., Tedeschi, S., Castelli, E., Garghentino, R., Turconi, A., Fraschini, P., Marchi, E., Negretto, G. G. & 5 others, Adobbati, L., Meola, G., Tonin, P., Papadimitriou, A. & Scarlato, G., Feb 1994, In : Brain. 117, 1, p. 1-14 14 p.

Research output: Contribution to journalArticle

dystrophin
muscular dystrophy
Dystrophin
Duchenne Muscular Dystrophy
molecular genetics
1995

A G+1→A transversion at the 5′ splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient

Comi, G. P., Ciafaloni, E., De Silva, H. A. R., Prelle, A., Bardoni, A., Rigoletto, C., Robotti, M., Bresolin, N., Moggio, M., Fortunato, F., Ciscato, P., Turconi, A., Rose, A. D. & Scarlato, G., Nov 1995, In : Human Molecular Genetics. 4, 11, p. 2171-2174 4 p.

Research output: Contribution to journalArticle

High serum creatine kinase levels associated with cylindrical spirals at muscle biopsy

Rapuzzi, S., Prelle, A., Moggio, M., Rigoletto, C., Ciscato, P., Comi, G., Francesca, F. & Scarlato, G., Dec 1995, In : Acta Neuropathologica. 90, 6, p. 660-664 5 p.

Research output: Contribution to journalArticle

Cytoskeletal Proteins
Succinate Dehydrogenase
Creatine Kinase
Microscopy
Observation

Utrophin expression during human fetal development

Rigoletto, C., Prelle, A., Ciscato, P., Moggio, M., Comi, G., Fortunato, F. & Scarlato, G., 1995, In : International Journal of Developmental Neuroscience. 13, 6, p. 585-593 9 p.

Research output: Contribution to journalArticle

Utrophin
Dystrophin
Human Development
Fetal Development
Bungarotoxins
1996

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

Desmin
Siblings
Skeletal Muscle
Myalgia
Neurologic Examination
1997

An atypical case of partial merosin deficiency congenital muscular dystrophy.

Prelle, A., Comi, G. P., Rigoletto, C., Turconi, A., Felisari, G., Ciscato, P., Fortunato, F., Messina, S., Bresolin, N., Mora, M., Moggio, M. & Scarlato, G., Jun 1997, In : Journal of Neurology. 244, 6, p. 391-395 5 p.

Research output: Contribution to journalArticle

1998

Polyneuropathy due to cobalamin deficiency in the rat

Tredici, G., Buccellato, F. R., Braga, M., Cavaletti, G., Ciscato, P., Moggio, A. & Scalabrino, G., Mar 17 1998, In : Journal of the Neurological Sciences. 156, 1, p. 18-29 12 p.

Research output: Contribution to journalArticle

Polyneuropathies
Vitamin B 12
Peripheral Nervous System
Diet
Peroneal Nerve

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

Sarcoglycans
Population
Sarcoglycanopathies
Dystrophin-Associated Proteins
Protein Deficiency
1999

Erratum: Polyneuropathy due to cobalamin deficiency in the rat (Journal of the Neurological Sciences (1998) 156 (18-29) PII S0022510X98000057)

Tredici, G., Buccellato, F. R., Braga, M., Cavaletti, G., Ciscato, P., Moggio, A. & Scalabrino, G., Jan 15 1999, In : Journal of the Neurological Sciences. 162, 2, p. 209 1 p.

Research output: Contribution to journalArticle

2000

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

Desmin
Nuclear Matrix-Associated Proteins
Cyclin-Dependent Kinases
Phosphotransferases
Biopsy
2001

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

Mitochondrial Diseases
Molecular Biology
Retrospective Studies
Chronic Progressive External Ophthalmoplegia
Lactic Acid

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

Mitochondrial Diseases
Molecular Biology
Retrospective Studies
Chronic Progressive External Ophthalmoplegia
Lactic Acid

β-enolase deficiency, a new metabolic myopathy of distal glycolysis

Comi, G. P., Fortunato, F., Lucchiari, S., Bordoni, A., Prelle, A., Jann, S., Keller, A., Ciscato, P., Galbiati, S., Chiveri, L., Torrente, Y., Scarlato, G. & Bresolin, N., 2001, In : Annals of Neurology. 50, 2, p. 202-207 6 p.

Research output: Contribution to journalArticle

Distal Myopathies
Phosphopyruvate Hydratase
Glycolysis
Muscles
Glycine
2002
Inbred mdx Mouse
Bone Marrow Cells
Bone Marrow
Muscles
Skeletal Muscle

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

Creatine Kinase
Retrospective Studies
Biopsy
Muscles
Skeletal Muscle
2003

A CAV3 microdeletion differentially affects skeletal muscle and myocardium

Cagliani, R., Bresolin, N., Prelle, A., Gallanti, A., Fortunato, F., Sironi, M., Ciscato, P., Fagiolari, G., Bonato, S., Galbiati, S., Corti, S., Lamperti, C., Moggio, M. & Comi, G. P., Dec 9 2003, In : Neurology. 61, 11, p. 1513-1519 7 p.

Research output: Contribution to journalArticle

Caveolin 3
Myocardium
Skeletal Muscle
Dystrophin
Muscle Proteins

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

Muscular Diseases
Skeletal Muscle
Distal Myopathies
Sarcoglycans
Caveolins
2005

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

Slow-Twitch Muscle Fibers
Mitochondrial DNA
Myoglobinuria
Leber's Hereditary Optic Atrophy
Biopsy

Decorin and biglycan expression is differentially altered in several muscular dystrophies

Zanotti, S., Negri, T., Cappelletti, C., Bernasconi, P., Canioni, E., Di Blasi, C., Pegoraro, E., Angelini, C., Ciscato, P., Prelle, A., Mantegazza, R., Morandi, L. & Mora, M., Nov 2005, In : Brain. 128, 11, p. 2546-2555 10 p.

Research output: Contribution to journalArticle

Biglycan
Decorin
Duchenne Muscular Dystrophy
Muscular Dystrophies
Sarcoglycans

Expression and localization of myotonic dystrophy protein kinase in human skeletal muscle cells determined with a novel antibody: Possible role of the protein in cytoskeleton rearrangements during differentiation

Beffy, P., Barsanti, C., Del Carratore, R., Simi, S., Benedetti, P. A., Benzi, L., Prelle, A., Ciscato, P. & Simili, M., Sep 2005, In : Cell Biology International. 29, 9, p. 742-753 12 p.

Research output: Contribution to journalArticle

Cytoskeleton
Muscle Cells
Skeletal Muscle
Antibodies
Anti-Idiotypic Antibodies

Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.

Cagliani, R., Magri, F., Toscano, A., Merlini, L., Fortunato, F., Lamperti, C., Rodolico, C., Prelle, A., Sironi, M., Aguennouz, M., Ciscato, P., Uncini, A., Moggio, M., Bresolin, N. & Comi, G. P., Sep 2005, In : Human Mutation. 26, 3, p. 283 1 p.

Research output: Contribution to journalArticle

Annexin A2
Annexin A1
Annexins
Muscular Dystrophies
Limb-Girdle Muscular Dystrophies
2006
Dystroglycans
Muscular Dystrophies
Glycosylation
Inflammation
Muscles

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

Gabellini, D., D'Antona, G., Moggio, M., Prelle, A., Zecca, C., Adami, R., Angeletti, B., Ciscato, P., Pellegrino, M. A., Bottinelli, R., Green, M. R. & Tupler, R., Feb 23 2006, In : Nature. 439, 7079, p. 973-977 5 p.

Research output: Contribution to journalArticle

Facioscapulohumeral Muscular Dystrophy
Transgenic Mice
Skeletal Muscle
RNA Precursors
Alternative Splicing
2008

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

Guglieri, M., Magri, F., D'Angelo, M. G., Prelle, A., Morandi, L., Rodolico, C., Cagliani, R., Mora, M., Fortunato, F., Bordoni, A., Del Bo, R., Ghezzi, S., Pagliarani, S., Lucchiari, S., Salani, S., Zecca, C., Lamperti, C., Ronchi, D., Aguennouz, M., Ciscato, P. & 8 others, Di Blasi, C., Ruggieri, A., Moroni, I., Turconi, A., Toscano, A., Moggio, M., Bresolin, N. & Comi, G. P., Feb 2008, In : Human Mutation. 29, 2, p. 258-266 9 p.

Research output: Contribution to journalArticle

Sarcoglycans
Limb-Girdle Muscular Dystrophies
Sarcoglycanopathies
Caveolin 3
Calpain
2010

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

RNA, Transfer, Leu
Mitochondrial Myopathies
Mitochondrial DNA
Muscles
Mutation
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

Dystrophin
Nucleotides
Mutation
Genes
Nonsense Codon

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

Genotype
Phenotype
Mutation
Natural History
Dystrophin

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

Ophthalmoplegia
Chronic Progressive External Ophthalmoplegia
Exons
Mutation
Mitochondrial DNA
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

Limb-Girdle Muscular Dystrophies
Mutation
Biopsy
Muscles
Molecular Epidemiology

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

RNA, Transfer, Asn
Ophthalmoplegia
Mitochondrial DNA
Mutation
Phenotype
2014

Mitochondrial changes in platelets are not related to those in skeletal muscle during human septic shock

Protti, A., Fortunato, F., Caspani, M. L., Pluderi, M., Lucchini, V., Grimoldi, N., Solimeno, L. P., Fagiolari, G., Ciscato, P., Zella, S. M. A., Moggio, M., Comi, G. P. & Gattinoni, L., May 1 2014, In : PLoS One. 9, 5, e96205.

Research output: Contribution to journalArticle

Citrate (si)-Synthase
septic shock
citrate (si)-synthase
Septic Shock
Platelets

Novel CLN3 mutation causing autophagic vacuolar myopathy

Cortese, A., Tucci, A., Piccolo, G., Galimberti, C. A., Fratta, P., Marchioni, E., Grampa, G., Cereda, C., Grieco, G., Ricca, I., Pittman, A., Ciscato, P., Napoli, L., Lucchini, V., Ripolone, M., Violano, R., Fagiolari, G., Mole, S. E., Hardy, J., Moglia, A. & 1 others, Moggio, M., Jun 10 2014, In : Neurology. 82, 23, p. 2072-2076 5 p.

Research output: Contribution to journalArticle

Vacuoles
Mutation
Exome
Hypertrophic Cardiomyopathy
Genetic Testing
2015

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases

Magri, F., Colombo, I., Del Bo, R., Previtali, S., Brusa, R., Ciscato, P., Scarlato, M., Ronchi, D., D'Angelo, M. G., Corti, S., Moggio, M., Bresolin, N. & Comi, G. P., Sep 24 2015, In : BMC Neurology. 15, 1, 172.

Research output: Contribution to journalArticle

Dystroglycans
Limb-Girdle Muscular Dystrophies
Terpenes
Mutation
Genes
2016

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

2018

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

Brusa, R., Magri, F., Papadimitriou, D., Govoni, A., Del Bo, R., Ciscato, P., Savarese, M., Cinnante, C., Walter, M. C., Abicht, A., Bulst, S., Corti, S., Moggio, M., Bresolin, N., Nigro, V. & Comi, G. P., 2018, In : Neuromuscular Disorders. 28, 6, p. 532-537

Research output: Contribution to journalArticle

Limb-Girdle Muscular Dystrophies
Founder Effect
Lower Extremity
Genes
Muscles