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1Academic Journal
المؤلفون: Aleo S. J., Del Dotto V., Romagnoli M., Fiorini C., Capirossi G., Peron C., Maresca A., Caporali L., Capristo M., Tropeano C. V., Zanna C., Ross-Cisneros F. N., Sadun A. A., Pignataro M. G., Giordano C., Fasano C., Cavaliere A., Porcelli A. M., Tioli G., Musiani F., Catania A., Lamperti C., Marzoli S. B., De Negri A., Cascavilla M. L., Battista M., Barboni P., Carbonelli M., Amore G., La Morgia C., Smirnov D., Vasilescu C., Farzeen A., Blickhaeuser B., Prokisch H., Priglinger C., Livonius B., Catarino C. B., Klopstock T., Tiranti V., Carelli V., Ghelli A. M.
المساهمون: Aleo S.J., Del Dotto V., Romagnoli M., Fiorini C., Capirossi G., Peron C., Maresca A., Caporali L., Capristo M., Tropeano C.V., Zanna C., Ross-Cisneros F.N., Sadun A.A., Pignataro M.G., Giordano C., Fasano C., Cavaliere A., Porcelli A.M., Tioli G., Musiani F., Catania A., Lamperti C., Marzoli S.B., De Negri A., Cascavilla M.L., Battista M., Barboni P., Carbonelli M., Amore G., La Morgia C., Smirnov D., Vasilescu C., Farzeen A., Blickhaeuser B., Prokisch H., Priglinger C., Livonius B., Catarino C.B., Klopstock T., Tiranti V., Carelli V., Ghelli A.M.
مصطلحات موضوعية: complex I, cybrid, fibroblast, idebenone, Leber hereditary optic neuropathy, LHON, mtDNA, NQO1, retinal ganglion cells
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/38272025; volume:5; issue:2; firstpage:1; lastpage:24; numberofpages:24; journal:CELL REPORTS MEDICINE; https://hdl.handle.net/11585/966217; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85182989562; https://www.sciencedirect.com/science/article/pii/S2666379123006122?via=ihub
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2Academic Journal
المؤلفون: Haack, TB, Ignatius, E, Calvo-Garrido, J, Iuso, A, Isohanni, P, Maffezzini, C, Lonnqvist, T, Suomalainen, A, Gorza, M, Kremer, LS, Graf, E, Hartig, M, Berutti, R, Paucar, M, Svenningsson, P, Stranneheim, H, Brandberg, G, Wedell, A, Kurian, MA, Hayflick, SA, Venco, P, Tiranti, V, Strom, TM, Dichgans, M, Horvath, R, Holinski-Feder, E, Freyer, C, Meitinger, T, Prokisch, H, Senderek, J, Wredenberg, A, Carroll, CJ, Klopstock, T
المصدر: American journal of human genetics. 99(3):735-743
مصطلحات موضوعية: Medicin och hälsovetenskap
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3Academic Journal
المؤلفون: Santambrogio P, Cozzi A, Di Meo I, Cavestro C, Vergara C, Rodríguez-Pascau L, Martinell M, Pizcueta P, Tiranti V, Levi S.
المساهمون: Santambrogio, P, Cozzi, A, Di Meo, I, Cavestro, C, Vergara, C, Rodríguez-Pascau, L, Martinell, M, Pizcueta, P, Tiranti, V, Levi, S.
مصطلحات موضوعية: hiPS-derived astrocyte, leriglitazone, nuerodegeneration with brain iron accumulation, pantothenate kinase-2 associated neurodegeneration
Relation: info:eu-repo/semantics/altIdentifier/pmid/36678831; info:eu-repo/semantics/altIdentifier/wos/WOS:000927061400001; volume:15; issue:1; numberofpages:14; journal:PHARMACEUTICS; https://hdl.handle.net/20.500.11768/136248
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4Academic Journal
المؤلفون: Ardissone A., Ferrera G., Lamperti C., Tiranti V., Ghezzi D., Moroni I., Lamantea E.
المساهمون: A. Ardissone, G. Ferrera, C. Lamperti, V. Tiranti, D. Ghezzi, I. Moroni, E. Lamantea
مصطلحات موضوعية: mitochondrial disorder, mitochondrial DNA, pediatric, phenotype, Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia
Relation: info:eu-repo/semantics/altIdentifier/pmid/37038312; info:eu-repo/semantics/altIdentifier/wos/WOS:000979070900001; volume:30; issue:7; firstpage:2079; lastpage:2091; numberofpages:13; journal:EUROPEAN JOURNAL OF NEUROLOGY; https://hdl.handle.net/2434/993969; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85153621155
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5Academic Journal
المؤلفون: Zanuttigh E., Rusha E., Peron C., Brunetti D., Zorzi G., Pertek A., Nteli P., Winkelmann J., Tiranti V., Iuso A.
المساهمون: E. Zanuttigh, E. Rusha, C. Peron, D. Brunetti, G. Zorzi, A. Pertek, P. Nteli, J. Winkelmann, V. Tiranti, A. Iuso
Relation: info:eu-repo/semantics/altIdentifier/pmid/37689041; info:eu-repo/semantics/altIdentifier/wos/WOS:001118630200001; volume:72; firstpage:1; lastpage:5; numberofpages:5; journal:STEM CELL RESEARCH; https://hdl.handle.net/2434/1031729; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85171690973
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6Academic Journal
المؤلفون: Di Donfrancesco A, Massaro G, Di Meo I, Tiranti V, Bottani E, Brunetti D
المساهمون: Di Donfrancesco, A, Massaro, G, Di Meo, I, Tiranti, V, Bottani, E, Brunetti, D
مصطلحات موضوعية: gene therapy, mitochondria, mitochondrial DNA, mitochondrial disease, precision medicine
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/35745859; info:eu-repo/semantics/altIdentifier/wos/WOS:000816037700001; volume:14; issue:6; firstpage:1; lastpage:30; numberofpages:30; journal:PHARMACEUTICS; http://hdl.handle.net/11562/1069547; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85132766436
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7Academic Journal
المؤلفون: Santambrogio P., Ripamonti M., Cozzi A., Raimondi M., Cavestro C., Di Meo I., Rubio A., Taverna S., Tiranti V., Levi S.
المساهمون: Santambrogio, P., Ripamonti, M., Cozzi, A., Raimondi, M., Cavestro, C., Di Meo, I., Rubio, A., Taverna, S., Tiranti, V., Levi, S.
Relation: info:eu-repo/semantics/altIdentifier/pmid/35217637; info:eu-repo/semantics/altIdentifier/wos/WOS:000761971400004; volume:13; issue:2; numberofpages:12; journal:CELL DEATH & DISEASE; https://hdl.handle.net/20.500.11768/126855
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8Academic Journal
المؤلفون: Carinci M., Testa B., Bordi M., Milletti G., Bonora M., Antonucci L., Ferraina C., Carro M., Kumar M., Ceglie D., Eck F., Nardacci R., le Guerroue F., Petrini S., Soriano M. E., Caruana I., Doria V., Manifava M., Peron C., Lambrughi M., Tiranti V., Behrends C., Papaleo E., Pinton P., Giorgi C., Ktistakis N. T., Locatelli F., Nazio F., Cecconi F.
المساهمون: Carinci, M., Testa, B., Bordi, M., Milletti, G., Bonora, M., Antonucci, L., Ferraina, C., Carro, M., Kumar, M., Ceglie, D., Eck, F., Nardacci, R., le Guerroue, F., Petrini, S., Soriano, M. E., Caruana, I., Doria, V., Manifava, M., Peron, C., Lambrughi, M., Tiranti, V., Behrends, C., Papaleo, E., Pinton, P., Giorgi, C., Ktistakis, N. T., Locatelli, F., Nazio, F., Cecconi, F.
مصطلحات موضوعية: autophagy, ERGIC, LC3C, TFG, Autophagosome, Autophagy-Related Protein-1 Homolog, Blotting, Western, Fluorescent Antibody Technique, HEK293 Cell, HeLa Cell, Human, Immunoprecipitation, Intracellular Signaling Peptides and Protein, Microscopy, Electron, Transmission, Microtubule-Associated Protein, Protein, RNA Interference
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/33932238; info:eu-repo/semantics/altIdentifier/wos/WOS:000651236300001; volume:40; issue:10; firstpage:e103563; journal:EMBO JOURNAL; http://hdl.handle.net/11577/3420724; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105240923
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9Academic Journal
المؤلفون: Peron C., Maresca A., Cavaliere A., Iannielli A., Broccoli V., Carelli V., Di Meo I., Tiranti V.
المساهمون: Peron C., Maresca A., Cavaliere A., Iannielli A., Broccoli V., Carelli V., Di Meo I., Tiranti V.
مصطلحات موضوعية: human induced pluripotent stem cell, Leber's hereditary optic neuropathy, mitochondrial disorder, organoid, retinal ganglion cells (RGC)
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/34168607; info:eu-repo/semantics/altIdentifier/wos/WOS:000664572200001; volume:12; firstpage:648916; lastpage:648916; numberofpages:9; journal:FRONTIERS IN NEUROLOGY; http://hdl.handle.net/11585/864588; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85108334207; https://www.frontiersin.org/articles/10.3389/fneur.2021.648916/full
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10Academic Journal
المؤلفون: Palombo F., Peron C., Caporali L., Iannielli A., Maresca A., Di Meo I., Fiorini C., Segnali A., Sciacca F. L., Rizzo A., Levi S., Suomalainen A., Prigione A., Broccoli V., Carelli V., Tiranti V.
المساهمون: Palombo F., Peron C., Caporali L., Iannielli A., Maresca A., Di Meo I., Fiorini C., Segnali A., Sciacca F.L., Rizzo A., Levi S., Suomalainen A., Prigione A., Broccoli V., Carelli V., Tiranti V.
مصطلحات موضوعية: human iPSC, iPSCs quality control, mtDNA deep sequencing, neuronal precursor cells
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/34329598; info:eu-repo/semantics/altIdentifier/wos/WOS:000684300500010; volume:16; issue:8; firstpage:1953; lastpage:1967; numberofpages:15; journal:STEM CELL REPORTS; https://hdl.handle.net/11585/854205; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111992064; https://www.sciencedirect.com/science/article/pii/S2213671121003246?via=ihub
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11Academic Journal
المؤلفون: Santambrogio P., Ripamonti M., Paolizzi C., Panteghini C., Carecchio M., Chiapparini L., Raimondi M., Rubio A., Di Meo I., Cozzi A., Taverna S., De Palma G., Tiranti V., Levi S.
المساهمون: Santambrogio, P., Ripamonti, M., Paolizzi, C., Panteghini, C., Carecchio, M., Chiapparini, L., Raimondi, M., Rubio, A., Di Meo, I., Cozzi, A., Taverna, S., De Palma, G., Tiranti, V., Levi, S.
مصطلحات موضوعية: Calcium, IPSC (induced pluripotent stem cells), Iron, NBIA (neurodegeneration with brain iron accumulation), Neurodegeneration, PKAN (pantothenate kinase-associated neurodegeneration)
Relation: info:eu-repo/semantics/altIdentifier/pmid/32456086; info:eu-repo/semantics/altIdentifier/wos/WOS:000539312100260; volume:21; issue:10; firstpage:3664; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11577/3343992
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12Academic Journal
المؤلفون: Ersoy M., Tiranti V., Zeviani M.
المساهمون: Ersoy, M., Tiranti, V., Zeviani, M.
مصطلحات موضوعية: ETHE1 gene, Mild course, Therapy response
Time: 2
Relation: info:eu-repo/semantics/altIdentifier/pmid/32923369; info:eu-repo/semantics/altIdentifier/wos/WOS:000600655200008; volume:25; firstpage:100641; journal:MOLECULAR GENETICS AND METABOLISM REPORTS; http://hdl.handle.net/11577/3354156
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13Academic Journal
المؤلفون: Peron C., Mauceri R., Cabassi T., Segnali A., Maresca A., Iannielli A., Rizzo A., Sciacca F. L., Broccoli V., Carelli V., Tiranti V.
المساهمون: Peron C., Mauceri R., Cabassi T., Segnali A., Maresca A., Iannielli A., Rizzo A., Sciacca F.L., Broccoli V., Carelli V., Tiranti V.
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/32771908; info:eu-repo/semantics/altIdentifier/wos/WOS:000579854400029; volume:48; firstpage:1; lastpage:4; numberofpages:4; journal:STEM CELL RESEARCH; https://hdl.handle.net/11585/794028; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089148527; https://www.sciencedirect.com/science/article/pii/S1873506120302403?via=ihub
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14Academic Journal
المؤلفون: Del Dotto, V., Ullah, F., Di Meo, I., Magini, P., Gusic, M., Maresca, A., Caporali, L., Palombo, F., Tagliavini, F., Baugh, E.H., Macao, B., Szilagyi, Z., Peron, C., Gustafson, M.A., Khan, K., La Morgia, C., Barboni, P., Carbonelli, M., Valentino, M.L., Liguori, R., Shashi, V., Sullivan, J., Nagaraj, S., El-Dairi, M., Iannaccone, A., Cutcutache, I., Bertini, E., Carrozzo, R., Emma, F., Diomedi-Camassei, F., Zanna, C., Armstrong, M., Page, M., Stong, N., Boesch, S., Kopajtich, R., Wortmann, S.B., Sperl, W., Davis, E.E., Copeland, W.C., Seri, M., Falkenberg, M., Prokisch, H., Katsanis, N., Tiranti, V., Pippucci, T., Carelli, V.
المصدر: J. Clin. Invest. 130, 108-125 (2020)
مصطلحات موضوعية: Bioenergetics, Genetic Diseases, Genetics, Mitochondria, Ophthalmology
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000505205000020; info:eu-repo/semantics/altIdentifier/isbn/0021-9738; info:eu-repo/semantics/altIdentifier/pissn/0021-9738; info:eu-repo/semantics/altIde; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57804; urn:isbn:0021-9738; urn:issn:0021-9738; urn:issn:1558-8238
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15Electronic Resource
المؤلفون: Cavaliere, A, Marchet, S, Di Meo, I, Tiranti, V, Cavaliere A., Marchet S., Di Meo I., Tiranti V.
مصطلحات الفهرس: DNA, Mitochondrial, Human, Hybrid Cell, Mitochondria, Mitochondrial Disease, Oxidative Phosphorylation, info:eu-repo/semantics/article
URL:
https://hdl.handle.net/10281/446282
info:eu-repo/semantics/altIdentifier/pmid/35343952
info:eu-repo/semantics/altIdentifier/wos/WOS:000830430700007
volume:2022
issue:181
journal:JOURNAL OF VISUALIZED EXPERIMENTS -
16Academic Journal
المؤلفون: Quadalti, C., Brunetti, D., Lagutina, I., Duchi, R., Perota, A., Lazzari, G., Cerutti, R., Di Meo, I., Johnson, M., Bottani, E., Crociara, P., Corona, C., Grifoni, S., Tiranti, V., Fernandez-Vizarra, E., Robinson, A. J., Viscomi, C., Casalone, C., Zeviani, M., Galli, C.
المساهمون: Quadalti, C., Brunetti, D., Lagutina, I., Duchi, R., Perota, A., Lazzari, G., Cerutti, R., Di Meo, I., Johnson, M., Bottani, E., Crociara, P., Corona, C., Grifoni, S., Tiranti, V., Fernandez-Vizarra, E., Robinson, A. J., Viscomi, C., Casalone, C., Zeviani, M., Galli, C.
مصطلحات موضوعية: Genome editing, Leigh syndrome, Mitochondrial disease, Pig, SURF1 KO, Animals, Genetically Modified, Newborn, Behavior, Animal, CRISPR-Cas Systems, Cells, Cultured, Central Nervous System, Down-Regulation, Electron Transport Complex IV, Female, Fibroblasts, Gene Editing, Gene Knockout Techniques, Humans, Jejunum, Leigh Disease, Male, Membrane Proteins, Mitochondria, Mitochondrial Proteins, Muscle, Skeletal, Nuclear Transfer Techniques
Relation: info:eu-repo/semantics/altIdentifier/pmid/29601977; info:eu-repo/semantics/altIdentifier/wos/WOS:000432105600012; volume:1864; issue:6 Pt A; firstpage:2131; lastpage:2142; numberofpages:12; journal:BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE; http://hdl.handle.net/11562/1030672; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85044934819; https://www.sciencedirect.com/science/article/pii/S092544391830111X?via=ihub
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17Academic Journal
المؤلفون: Punzi G., Porcelli V., Ruggiu M., Hossain M. F., Menga A., Scarcia P., Castegna A., Gorgoglione R., Pierri C. L., Laera L., Lasorsa F. M., Paradies E., Pisano I., Marobbio C. M. T., Lamantea E., Ghezzi D., Tiranti V., Giannattasio S., Donati M. A., Guerrini R., Palmieri L., Palmieri F., De Grassi A.
المساهمون: Punzi G., Porcelli V., Ruggiu M., Hossain M.F., Menga A., Scarcia P., Castegna A., Gorgoglione R., Pierri C.L., Laera L., Lasorsa F.M., Paradies E., Pisano I., Marobbio C.M.T., Lamantea E., Ghezzi D., Tiranti V., Giannattasio S., Donati M.A., Guerrini R., Palmieri L., Palmieri F., De Grassi A.
مصطلحات موضوعية: Antioxidant, Brain Disease, Child, DNA, Mitochondrial, Dicarboxylic Acid Transporter, Heterozygote, Human, Male, Metabolism, Inborn Error, Mitochondria, Mitochondrial Disease, Mutation, Oxidative Phosphorylation, Oxidative Stre, Pedigree, RNA Splicing
Relation: info:eu-repo/semantics/altIdentifier/pmid/29211846; info:eu-repo/semantics/altIdentifier/wos/WOS:000424136000009; volume:27; issue:3; firstpage:499; lastpage:504; numberofpages:6; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/2318/1869079; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85042595293
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18Academic Journal
المؤلفون: Marchet, S, Invernizzi, F, Blasevich, F, Bruno, V, Dusi, S, Venco, P, Fiorillo, C, Baranello, G, Pallotti, F, Lamantea, E, Mora, M, Tiranti, V, Lamperti, C
المصدر: Mitochondrion , 47 pp. 24-29. (2019)
مصطلحات موضوعية: CHKB, JC-1, Megaconial CMD, Membrane phospholipids, Mitochondria
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10073868/7/Baranello_Alteration%20of%20mitochondrial%20membrane%20inner%20potential%20in%20three%20Italian%20patients%20with%20megaconial%20congenital%20muscular%20dystrophy_AAM2.pdf; https://discovery.ucl.ac.uk/id/eprint/10073868/
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19Academic Journal
المؤلفون: Catania, A., Iuso, A., Bouchereau, J., Kremer, L.S., Paviolo, M., Terrile, C., Bénit, P., Rasmusson, A.G., Schwarzmayr, T., Tiranti, V., Rustin, P., Rak, M., Prokisch, H., Schiff, M.
المصدر: Orphanet J. Rare Dis. 14:236 (2019)
مصطلحات موضوعية: Mitochondria, Mitochondrial Diseases, Complex I, Alternative Dehydrogenases, Arabidopsis Thaliana, Atnda2
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/31665043; info:eu-repo/semantics/altIdentifier/wos/WOS:000504499600001; info:eu-repo/semantics/altIdentifier/isbn/1750-1172; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57215; urn:isbn:1750-1172; urn:issn:1750-1172
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20Academic Journal
المؤلفون: Ripamonti M, Santambrogio P, Racchetti G, Cozzi A, Di Meo I, Tiranti V, Levi S.
المساهمون: Ripamonti, M, Santambrogio, P, Racchetti, G, Cozzi, A, Di Meo, I, Tiranti, V, Levi, S.
مصطلحات موضوعية: PKAN disease, cellular iron uptake, endosomal trafficking, iron accumulation, neurodegeneration
Relation: info:eu-repo/semantics/altIdentifier/pmid/35783094; info:eu-repo/semantics/altIdentifier/wos/WOS:000819305500001; issue:16; journal:FRONTIERS IN CELLULAR NEUROSCIENCE; https://hdl.handle.net/20.500.11768/136254