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2. Increased production of inflammatory cytokines by circulating monocytes in mesial temporal lobe epilepsy: A possible role in drug resistance

Author

Milano, C., primary, Montali, M., additional, Barachini, S., additional, Burzi, I.S., additional, Pratesi, F., additional, Petrozzi, L., additional, Chico, L., additional, Morganti, R., additional, Gambino, G., additional, Rossi, L., additional, Ceravolo, R., additional, Siciliano, G., additional, Migliorini, P., additional, Petrini, I., additional, and Pizzanelli, C., additional

Published
2023
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12. Monitoring the quality of laboratories and the prevalence of resistance to antituberculosis drugs: Italy, 1998–2000

Author

Migliori, G. B., Fattorini, L., Vaccarino, R., Besozzi, G., Saltini, C., Orefici, G., Iona, E., Matteelli, A., Fiorentini, F., Codecasa, L. R., Casali, Lucio, Cassone, A., De Santis, A., Giorgio, V., Vinciguerra, P., Angarano, G., Petrozzi, L., Costa, D., Gozzellino, F., Perboni, A., Marchetti, D., Pascali, A., Falcone, F., Mariano, V., Rizza, F., Pretto, P., Turano, A., Carosi, G. P., Farris, A. G., Ligia, G. P., Orani, G., Farris, B., Foschi, C., Trucco, G., Aiolfi, S., Ceruti, T., Parpanesi, M., Calabro, S., Felisatti, G., Tortoli, E., Nutini, S., Montini, G., D'Ambrosio, V., Ceraminiello, A., Bernorio, S., Buono, L., Montesano, P., Vinci, E., Sabato, E., Gamba, S., Crepaldi, P., Magliano, E., Penati, V., Vaccarino, P., Astolfi, A., Bertoli, G., Rupianesi, F., Losi, M., Richeldi, L., Ferrara, Giovanni, Minuccio, E., Napolitano, G., Molinari, G. L., Saini, L., Garzone, A., Vertuccio, C., Marcias, S., Menozzi, M., Marone, P., Peona, V., Nascimbene, C., Pasi, A., Cascina, A., Monaco, A., Penza, O., Pasticci, Maria Bruna, Bistoni, F., Sposini, T., Colorizio, V., Confalonieri, M., Bottrighi, P., Macor, G., Moretti, G., Fatigante, R., Barbaro, A., Agati, G., Zaccara, F., Viola, S., Le Donne, R., Farinelli, G., Mancini, D., Ermeti, M., Longi, R., Tronci, M., Bisetti, A., Altieri, A., and Fadda, G.

Subjects
Pulmonary and Respiratory Medicine, medicine.medical_specialty, Tuberculosis, Prevalence of resistance, Drug Resistance, Antitubercular Agents, Drug resistance, Proficiency testing, Drug, Immigrant, Susceptibility testing, Emigration and Immigration, Humans, Italy, Laboratories, Prevalence, Drug Resistance, Multiple, Bacterial, Tuberculosis, Multidrug-Resistant, Internal medicine, medicine, Ethambutol, business.industry, Public health, Isoniazid, Bacterial, Multidrug-Resistant, medicine.disease, Surgery, Streptomycin, business, Multiple, Rifampicin, medicine.drug
Abstract

In 1998 a network of 20 regional tuberculosis (TB) laboratories (the Italian Multicentre Study on Resistance to Antituberculosis drugs (SMIRA) network) was established in Italy to implement proficiency testing and to monitor the prevalence of drug resistance nationwide. The network managed 30% of all TB cases reported in Italy each year. The aim of the present report is to describe: 1) the accuracy of drug-susceptibility testing in the network; 2) the prevalence of drug resistance for the period 1998-2000. Data were collected from the network laboratories. Sensitivity to streptomycin and ethambutol increased from the first survey (1998-1999) to the second survey (2000) from 87.7 to 91.9%. Specificity, predictive values for resistance and susceptibility, efficiency and reproducibility were consistent in both surveys. In previously untreated cases, the prevalence of multidrug-resistance was the same in both surveys (1.2%), while a slight decrease from the first to the second survey was observed for monoresistance to rifampicin (from 0.8 to 0.4%) and isoniazid (from 2.9 to 2%). The significant association found between isoniazid resistance and immigration is a useful indicator for both clinicians managing individual tuberculosis cases and public health services planning control strategies.

Published
2003
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13. Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

Author

Marongiu, R., Ghezzi, D., Ialongo, T., Soleti, F., Elia, A., Cavone, S., Albanese, A., Altavista, M. C., Barone, P., Brusa, L., Cortelli, P., Petrozzi, L., Scaglione, C., Stanzione, P., Tinazzi, M., Zeviani, M., Dallapiccola, B., Bentivoglio, A. R., Valente, E. M., Garavaglia, B., Conca, E., Fasano, A., Marelli, C., Martinelli, P., Nordera, G., Pellecchia, M. T., Marongiu R., Ghezzi D., Ialongo T., Soleti F., Elia A., Cavone S., Albanese A., Altavista M.C., Barone P., Brusa L., Cortelli P., Petrozzi L., Scaglione C., Stanzione P., Tinazzi M., Zeviani M., Dallapiccola B., Bentivoglio A.R., Valente E.M., Garavaglia B., and and the Italian PD Study Group.

Subjects
Proband, Male, Parkinson's disease, Late onset, Protein Serine-Threonine Kinases, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Heterozygote Detection, Gene Frequency, Medicine, Humans, LRRK2, Dardarin, mutation screening, Italy, Mutation frequency, Family history, Allele frequency, Genetics, business.industry, Genetic Carrier Screening, Haplotype, Parkinson Disease, Protein-Serine-Threonine Kinases, Settore MED/26 - NEUROLOGIA, Mutation screening, Amino Acid Substitution, Female, Phenotype, Mutation, Neurology, Mutation (genetic algorithm), Neurology (clinical), business
Abstract

To evaluate the frequency of the LRRK2 G2019S mutation in Italy, we tested 1,072 probands with Parkinson's disease (PD; 822 sporadic and 250 familial): 20 patients (1.9%) carried the G2019S mutation, 11 patients (1.3%) were sporadic, and 9 (4.3%) had a positive family history. Considering only probands with autosomal dominant inheritance, the G2019S frequency raises to 5.2%. All presented a typical phenotype with variable onset and shared the common ancestral haplotype. Mutation frequency raised from 1.2% in early onset PD to 4.0% in late onset PD.

Published
2006

14. Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations

Author

Patrono, C, Scarano, V, Cricchi, F, Melone, Ma, Chiriaco, M, Napolitano, A, Malandrini, A, DE MICHELE, G, Petrozzi, L, Giraldi, C, Santoro, L, Servidei, S, Casali, Carlo, C, Filla, A, Santorelli, Fm, Patrono, C, Scarano, V, Cricchi, F, Melone, Ma, Chiriaco, M, Napolitano, A, Malandrini, A, DE MICHELE, Giuseppe, Petrozzi, L, Giraldi, C, Santoro, Lucio, Servidei, S, Casali, C, Filla, Alessandro, Santorelli, F. M., Melone, Mariarosa Anna Beatrice, DE MICHELE, G, Santoro, L, and Filla, A

Subjects
Adult, Spastin, Hereditary spastic paraplegia, Genetic counseling, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Biology, Bioinformatics, medicine.disease_cause, Frameshift mutation, Cohort Studies, Genetics, medicine, Missense mutation, HSP, Humans, Amino Acid Sequence, Genetic Testing, Family history, Frameshift Mutation, Genetics (clinical), Chromatography, High Pressure Liquid, Genes, Dominant, Adenosine Triphosphatases, Mutation, Polymorphism, Genetic, Spastic Paraplegia, Hereditary, Middle Aged, medicine.disease, HSP, DHPLC, Penetrance, Settore MED/26 - NEUROLOGIA, Phenotype, Italy, hereditary spastic paraplegia, SPG4, Sequence Alignment, Polymorphism, Restriction Fragment Length
Abstract

We set up a new denaturing high-performance liquid chromatography (DHPLC)-based protocol to screen patients with autosomal dominant hereditary spastic paraplegia (AD-HSP) for mutations in SPG4. Six patients had a complicated form and 49 a pure HSP phenotype. We also analyzed 19 unrelated patients presenting with an HSP phenotype (pure in 17 and complicated in two subjects) but no clear family history, as such patients may be cases of dominant inheritance with low penetrance. The overall frequency of SPG4 mutations in our study of HSP (in which prior linkage data were unavailable) was 32.4%, rising to 46.9% when only pure AD-HSP patients were considered. This figure falls well within the range reported in different populations. Rather as expected, the clinical data available for the patients did not support an easy genotype-phenotype correlation. Moreover, the clinical picture was not influenced by the length of the predicted residual gene product. As well as identifying novel variants in SPG4, this study constitutes the molecular characterization of the largest cohort of Italian AD-HSP patients studied to date. In addition, it provided an efficient, cost-effective, and reliable detection protocol for mutational screening of SPG4, which might facilitate medical genetic counseling.

Published
2005

15. Surveillance of anti-tuberculosis drug resistance: Results of the 1998/1999 proficiency testing in Italy

Author

Migliori GB, Ambrosetti M, Fattorini L, Penati V, Vaccarino P, Besozzi G, Ortona L, Saltini C, Orefici G, Moro ML, Iona E, Cassone A, De Santis A, Giorgio V, Vinciguerra P, Angarano G, Petrozzi L, Costa D, Gozzellino F, Perboni A, Marchetti D, Pascali A, Falcone F, Mariano V, Rizza F, Pretto P, Turano A, Matteelli A, Carosi GP, Tedoldi S, Pinsi G, Farris AG, Ligia GP, Orani G, Farris B, Foschi C, Trucco G, Aiolfi S, Ceruti T, Parpanesi M, Calabro S, Felisatti G, Tortoli E, Nutini S, Montini G, Fiorentini F, D'Ambrosio V, Ceraminiello A, Bernorio S, Buono L, Montesano P, Vinci E, Sabato E, Gamba S, Crepaldi P, Bertoli G, Rupianesi F, Losi M, Richeldi L, Ferrara G, Muccio E, Napolitano G, Molinari GL, Saini L, Garzone A, Vertuccio C, Marcias, Menozzi, Marone P, Peona, Nascimbene, Pasi, Cascina, Casali, Monaco, Penza, Pasticci, M.B., Bistoni, Sposini, Colorizio, Confalonieri M, Bottrighi P, Orsi, Schiavi, Macor, Moretti, Fatigante, Barbaro, Agati, Zacarra, Viola, Le Donne, Farinelli, Mancini, Ermeti, Migliori, Gb, Ambrosetti, M, Fattorini, L, Penati, V, Vaccarino, P, Besozzi, G, Ortona, L, Saltini, C, Orefici, G, Moro, Ml, Iona, E, Cassone, A, De Santis, A, Giorgio, V, Vinciguerra, P, Angarano, G, Petrozzi, L, Costa, D, Gozzellino, F, Perboni, A, Marchetti, D, Pascali, A, Falcone, F, Mariano, V, Rizza, F, Pretto, P, Turano, A, Matteelli, A, Carosi, Gp, Tedoldi, S, Pinsi, G, Farris, Ag, Ligia, Gp, Orani, G, Farris, B, Foschi, C, Trucco, G, Aiolfi, S, Ceruti, T, Parpanesi, M, Calabro, S, Felisatti, G, Tortoli, E, Nutini, S, Montini, G, Fiorentini, F, D'Ambrosio, V, Ceraminiello, A, Bernorio, S, Buono, L, Montesano, P, Vinci, E, Sabato, E, Gamba, S, Crepaldi, P, Bertoli, G, Rupianesi, F, Losi, M, Richeldi, L, Ferrara, G, Muccio, E, Napolitano, G, Molinari, Gl, Saini, L, Garzone, A, Vertuccio, C, Marcias, Menozzi, Marone, P, Peona, Nascimbene, Pasi, Cascina, Casali, Monaco, Penza, Pasticci, M., B., Bistoni, Sposini, Colorizio, Confalonieri, M, Bottrighi, P, Orsi, Schiavi, Macor, Moretti, Fatigante, Barbaro, Agati, Zacarra, Viola, Le, Donne, Farinelli, Mancini, and Ermeti

Subjects
Tuberculosi, Drug susceptibility testing, Proficiency testing
Published
2000

23. Mitochondrial DNA haplogroup K in associated with a lower risk of Parkinson's disease in Italians

Author

Ghezzi, D, Marelli, Cecilia, Achilli, A, Goldwurm, S, Pezzoli, G, Barone, P, Pellecchia, Mt, Stanzione, P, Brusa, L, Bentivoglio, Anna Rita, Bonuccelli, U, Petrozzi, L, Abbruzzese, G, Marchese, R, Cortelli, P, Grimaldi, D, Martinelli, P, Ferrarese, C, Garavaglia, B, Sangiorgi, S, Carelli, V, Albanese, Alberto, and Zeviani, M

Subjects
Settore MED/26 - NEUROLOGIA, malattia di Parkinson
Published
2005

28. Surveillance of anti-tuberculosis drug resistance: Results of the 1998/1999 proficiency testing in Italy

Author

Migliori, Gb, Ambrosetti, M, Fattorini, L, Penati, V, Vaccarino, P, Besozzi, G, Ortona, L, Saltini, C, Orefici, G, Moro, Ml, Iona, E, Cassone, A, De Santis, A, Giorgio, V, Vinciguerra, P, Angarano, G, Petrozzi, L, Costa, D, Gozzellino, F, Perboni, A, Marchetti, D, Pascali, A, Falcone, F, Mariano, V, Rizza, F, Pretto, P, Turano, A, Matteelli, A, Carosi, Gp, Tedoldi, S, Pinsi, G, Farris, Ag, Ligia, Gp, Orani, G, Farris, B, Foschi, C, Trucco, G, Aiolfi, S, Ceruti, T, Parpanesi, M, Calabro, S, Felisatti, G, Tortoli, E, Nutini, S, Montini, G, Fiorentini, F, D'Ambrosio, V, Ceraminiello, A, Bernorio, S, Buono, L, Montesano, P, Vinci, E, Sabato, E, Gamba, S, Crepaldi, P, Bertoli, G, Rupianesi, F, Losi, M, Richeldi, L, Ferrara, G, Muccio, E, Napolitano, G, Molinari, Gl, Saini, L, Garzone, A, Vertuccio, C, Marcias, Menozzi, Marone, P, Peona, Nascimbene, Pasi, Cascina, Casali, Monaco, Penza, Pasticci, M. B., Bistoni, Sposini, Colorizio, Confalonieri, M, Bottrighi, P, Orsi, Schiavi, Macor, Moretti, Fatigante, Barbaro, Agati, Zacarra, Viola, Donne, Le, Farinelli, Mancini, and Ermeti

Subjects
Drug susceptibility testing, Tuberculosis, Proficiency testing
Published
2000

33. Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

Author

Marongiu, R, Ghezzi, Daniele, Ialongo, Tamara, Soleti, Francesco, Elia, Antonio Emanuele, Cavone, S, Albanese, Alberto, Altavista, Maria Concetta, Barone, Paolo, Brusa, L, Cortelli, Pietro, Petrozzi, L, Scaglione, Cesa, Stanzione, P, Tinazzi, Michele, Zeviani, M, Dallapiccola, B, Bentivoglio, Anna Rita, Valente, Enza Maria, Garavaglia, B, Albanese, Alberto (ORCID:0000-0002-5864-0006), Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X), Marongiu, R, Ghezzi, Daniele, Ialongo, Tamara, Soleti, Francesco, Elia, Antonio Emanuele, Cavone, S, Albanese, Alberto, Altavista, Maria Concetta, Barone, Paolo, Brusa, L, Cortelli, Pietro, Petrozzi, L, Scaglione, Cesa, Stanzione, P, Tinazzi, Michele, Zeviani, M, Dallapiccola, B, Bentivoglio, Anna Rita, Valente, Enza Maria, Garavaglia, B, Albanese, Alberto (ORCID:0000-0002-5864-0006), and Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X)

Abstract

To evaluate the frequency of the LRRK2 G2019S mutation in Italy, we tested 1,072 probands with Parkinson's disease (PD; 822 sporadic and 250 familial): 20 patients (1.9%) carried the G2019S mutation, 11 patients (1.3%) were sporadic, and 9 (4.3%) had a positive family history. Considering only probands with autosomal dominant inheritance, the G2019S frequency raises to 5.2%. All presented a typical phenotype with variable onset and shared the common ancestral haplotype. Mutation frequency raised from 1.2% in early onset PD to 4.0% in late onset PD.

Published
2006

43. Preferential occurrence of chromosome 21 malsegregation in peripheral blood lymphocytes of Alzheimer disease patients.

Author

Migliore, L., Botto, N., Scarpato, R., Petrozzi, L., Cipriani, G., and Bonuccelli, U.

Subjects
SOMATIC cells, ALZHEIMER'S patients, CYTOGENETICS, CYTOCHALASINS, LYMPHOCYTES, ANEUPLOIDY, FLUORESCENCE in situ hybridization
Abstract

To further investigate our finding of high levels of spontaneous aneuploidy in somatic cells of Alzheimer’s disease (AD) patients (Migliore et al. 1997), we studied the molecular cytogenetics of eight patients with sporadic AD and six healthy controls of similar age. Cytochalasin B-blocked binucleated peripheral blood lymphocytes from the AD patients and unaffected controls were used to measure micronucleus induction or other aneuploidy events, such as the presence of malsegregation in interphase nuclei (representing chromosome loss and gain). Dual-color fluorescence in situ hybridization (FISH) with differential labeled DNA probes was applied. We used a probe specific for the centromeres of chromosomes 13 and 21 combined with a single cosmid for the Down’s syndrome region (21q22.2) to obtain information on spontaneous chromosome loss and gain frequencies for both chromosomes (13 and 21). FISH data showed that AD lymphocytes had higher frequencies of chromosome loss (evaluated as fluorescently labeled micronuclei) for both chromosomes, as well as higher frequencies of aneuploid interphase nuclei, again involving both chromosomes, compared to control lymphocytes. However, aneuploidy for chromosome 21 was more frequent than for chromosome 13 in AD patients. This preferential occurrence of chromosome 21 in malsegregation in somatic cells of AD patients raises the hypothesis that mosaicism for trisomy of chromosome 21 could underlie the dementia phenotype in AD patients, as well as in elderly Down’s syndrome patients. Copyright © 1999 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Published
1999
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45. Prevalence of resistance to anti-tuberculosis drugs: Results of the 1998/99 national survey in Italy

Author

Giovanni Battista Migliori, Fattorini, L., Vaccarino, R., Besozzi, G., Saltini, C., Orefici, G., Iona, E., Matteelli, A., Fiorentini, F., Codecasa, L. R., Casali, L., Cassone, A., Santis, A., Giorgio, V., Vinciguerra, P., Angarano, G., Petrozzi, L., Costa, D., Gozzellino, F., Perboni, A., Marchetti, D., Pascali, A., Falcone, F., Mariano, V., Rizza, F., Pretto, P., Turano, A., Carosi, G. P., Farris, A. G., Ligia, G. P., Orani, G., Farris, B., Foschi, C., Trucco, G., Aiolfi, S., Ceruti, T., Parpanesi, M., Calabro, S., Felisatti, G., Tortoli, E., Nutini, S., Montini, G., D Ambrosio, V., Ceraminiello, A., Bernorio, S., Buono, L., Montesano, P., Vinci, E., Sabato, E., Gamba, S., Crepaldi, P., Magliano, E., Penati, V., Vaccarino, P., Astolfi, A., Bertoli, G., Rupianesi, F., Losi, M., Richeldi, L., Ferrara, G., Minuccio, E., Napolitano, G., Molinari, G. L., Saini, L., Garzone, A., Vertuccio, C., Marcias, S., Menozzi, M., Marone, P., Peona, V., Nascimbene, C., Pasi, A., Cascina, A., Monaco, A., Penza, O., Pasticci, M. B., Bistoni, F., Sposini, T., Colorizio, V., Confalonieri, M., Bottrighi, P., Macor, G., Moretti, G., Fatigante, R., Barbaro, A., Agati, G., Zaccara, F., Viola, S., Le Donne, R., Farinelli, G., Mancini, D., Ermeti, M., Longi, R., Tronci, M., Bisetti, A., Altieri, A., and Fadda, G.

46. Evaluation of tuberculosis treatment results in Italy, report 1998

Author

Centis, R., Ianni, A., Migliori, G. B., Casali, L., Agati, G., Aiolfi, S., Altieri, A., Ambrosetti, M., Angarano, G., Arossa, W., Bagnasco, G., Bazzerla, G., Berra, A., Besozzi, G., Bottrighi, P., Bugiani, M., Calabro, S., Castiglioni, G., Cavallero, M., Cicchitto, G., luigi codecasa, Colorizio, V., Confalonieri, M., D Ambrosio, L., D Ambrosio, V., Dellatommasa, S., Di Pisa, G., Ermeti, M., Faccini, E., Falcone, F., Farinelli, G., Fatigante, R., Farris, B., Fatur Volante, T., Felisatti, G., Ferranti, P., Fiorentini, F., Foschi, C., Garzone, A., Giorgio, V., Gozzellino, F., Jacopino, L., Lauriello, G., Le Donne, R., Longi, R., Macor, G., Mancini, D., Marchesani, M. F., Marcias, S., Mariano, V., Mennea, G., Monaco, A., Montesano, G., Moretti, G., Napolitano, G., Nardini, S., Nutini, S., Orani, G., Orsi, A., Parpanesi, M., Pasi, A., Penza, O., Perboni, A., Petrozzi, L., Pretto, P., Rossi, S., Sabato, E., Saini, L., Schiavi, L., Tazza, R., Trucco, G., Vertuccio, C., Viviani, U., Volante, M., Vinciguerra, P., Viola, S., Zaccara, F., Barelle, L., Bertoli, G., Bisetti, A., Bistoni, F., Buono, L., Carbonara, S., Carosi, G. P., Cascina, A., Cassone, A., Costa, D., Crepaldi, P., Santis, A., Diamare, F., Fabbro, L., Fadda, G., Farris, A. G., Fattorini, L., Ferrara, G., Gamba, S., Iona, E., and Losi, M.

48. Surveillance of anti-tuberculosis drug resistance: Results of the 1998/1999 proficiency testing in Italy

Author

Migliori, G. B., Ambrosetti, M., Fattorini, L., Penati, V., Vaccarino, P., Besozzi, G., Ortona, L., Saltini, C., Orefici, G., Moro, M. L., Iona, E., Cassone, A., Santis, A., Giorgio, V., Vinciguerra, P., Angarano, G., Petrozzi, L., Costa, D., Gozzellino, F., Perboni, A., Marchetti, D., Pascali, A., Falcone, F., Mariano, V., Rizza, F., Pretto, P., Turano, A., Alberto Matteelli, Carosi, G. P., Tedoldi, S., Pinsi, G., Farris, A. G., Ligia, G. P., Orani, G., Farris, B., Foschi, C., Trucco, G., Aiolfi, S., Ceruti, T., Parpanesi, M., Calabro, S., Felisatti, G., Tortoli, E., Nutini, S., Montini, G., Fiorentini, F., D Ambrosio, V., Ceraminiello, A., Bernorio, S., Buono, L., Montesano, P., Vinci, E., Sabato, E., Gamba, S., Crepaldi, P., Bertoli, G., Rupianesi, F., Losi, M., Richeldi, L., Ferrara, G., Minuccio, E., Napolitano, G., Molinari, G. L., Saini, L., Garzone, A., Vertuccio, C., Marcias, S., Menozzi, M., Marone, P., Peona, V., Nascimbene, C., Pasi, A., Cascina, A., Casali, L., Monaco, A., Penza, O., Pasticci, M. B., Bistoni, F., Sposini, T., Colorizio, V., Confalonieri, M., Bottrighi, P., Orsi, A., Schiavi, L., Macor, G., Moretti, G., Fatigante, R., Barbaro, A., Agati, G., Zacarra, F., Viola, S., Le Donne, R., Farinelli, G., Mancini, D., and Ermeti, M.

49. NEWS and VIEWS: Mitochondrial encephalomyopathies

Author

Ienco, E. C., Daniele Orsucci, Montano, V., Ferrari, E., Petrozzi, L., Cheli, M., Logerfo, A., Simoncini, C., Siciliano, G., and Mancuso, M.

Subjects
mitochondria, nuclear DNA, mitochondrial DNA, encephalopathy, Short Reviews, myopathy
Abstract

In recent years, there has been a surge of interest in mitochondrial diseases, a group of metabolic conditions caused by impairment of the oxidative phosphorylation system. The ubiquitous presence of mitochondria in all the cells of the body, their role as cell powerhouse and their particular genetic characteristics explain the phenotypic complexity and the diagnostic difficulties, bridging from paediatrician to neurologist.

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