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1دورية أكاديمية
المؤلفون: Marinaccio J., Micheli E., Udroiu I., Di Nottia M., Carrozzo R., Baranzini N., Grimaldi A., Leone S., Moreno S., Muzzi M., Sgura A.
المساهمون: Marinaccio, J., Micheli, E., Udroiu, I., Di Nottia, M., Carrozzo, R., Baranzini, N., Grimaldi, A., Leone, S., Moreno, S., Muzzi, M., Sgura, A.
مصطلحات موضوعية: electron microscopy, mitochondrion, oxidative response, primary cell line, telomerase catalytic subunit
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36901881; info:eu-repo/semantics/altIdentifier/wos/WOS:000946966700001; volume:24; issue:5; firstpage:1; lastpage:21; numberofpages:21; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11383/2149751Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85149838226
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2دورية أكاديمية
المؤلفون: Kaiyrzhanov, R., Mohammed, S.E.M., Maroofian, R., Husain, R.A., Catania, A., Torraco, A., Alahmad, A., Dutra-Clarke, M., Grønborg, S., Sudarsanam, A., Vogt, J., Arrigoni, F., Baptista, J., Haider, S., Feichtinger, R.G., Bernardi, P., Zulian, A., Gusic, M., Efthymiou, S., Bai, R., Bibi, F., Horga, A., Martinez-Agosto, J.A., Lam, A., Manole, A., Rodriguez, D.P., Durigon, R., Pyle, A., Albash, B., Dionisi-Vici, C., Murphy, D., Martinelli, D., Bugiardini, E., Allis, K., Lamperti, C., Reipert, S., Risom, L., Laugwitz, L., Di Nottia, M., McFarland, R., Vilarinho, L., Hanna, M., Prokisch, H., Mayr, J.A., Bertini, E.S., Ghezzi, D., Østergaard, E., Wortmann, S., Carrozzo, R., Haack, T.B., Taylor, R.W., Spinazzola, A., Nowikovsky, K., Houlden, H.
المصدر: Am. J. Hum. Genet. 109, 1692-1712 (2022)
مصطلحات موضوعية: Genetics, Letm1, Mitochondria, Mitochondrial Diseases, Neurodegeneration, Neurology, Oxidative Phosphorylation, Potassium Transport, Volume Homeostasis, Wolf-hirschhorn Syndrome
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36055214; info:eu-repo/semantics/altIdentifier/wos/WOS:000877624100011; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66080Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605
الإتاحة: https://doi.org/10.1016/j.ajhg.2022.07.007Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66080Test -
3دورية أكاديمية
المؤلفون: Di Nottia M., Marchese M., Verrigni D., Mutti C. D., Torraco A., Oliva R., Fernandez-Vizarra E., Morani F., Trani G., Rizza T., Ghezzi D., Ardissone A., Nesti C., Vasco G., Zeviani M., Minczuk M., Bertini E., Santorelli F. M., Carrozzo R.
المساهمون: Di Nottia, M., Marchese, M., Verrigni, D., Mutti, C. D., Torraco, A., Oliva, R., Fernandez-Vizarra, E., Morani, F., Trani, G., Rizza, T., Ghezzi, D., Ardissone, A., Nesti, C., Vasco, G., Zeviani, M., Minczuk, M., Bertini, E., Santorelli, F. M., Carrozzo, R.
مصطلحات موضوعية: Mitochondrial disorder, Mitochondrial protein synthesi, Mitoribosome, Molecular modeling, Movement disorder, MRPL24, Protein interaction, Zebrafish
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32344152; info:eu-repo/semantics/altIdentifier/wos/WOS:000542971000010; volume:141; numberofpages:11; journal:NEUROBIOLOGY OF DISEASE; https://hdl.handle.net/11568/1042496Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084253136; https://www.sciencedirect.com/science/article/pii/S0969996120301558Test
الإتاحة: https://doi.org/10.1016/j.nbd.2020.104880Test
https://hdl.handle.net/11568/1042496Test
https://www.sciencedirect.com/science/article/pii/S0969996120301558Test -
4دورية أكاديمية
المؤلفون: Torraco, A., Nasca, A., Verrigni, D., Pennisi, A., Zaki, M.S., Olivieri, G., Assouline, Z., Martinelli, D., Maroofian, R., Rizza, T., Di Nottia, M., Invernizzi, F., Lamantea, E., Longo, D., Houlden, H., Prokisch, H., Rötig, A., Dionisi-Vici, C., Bertini, E., Ghezzi, D., Carrozzo, R., Diodato, D.
المصدر: Hum. Mutat. 42, 699-710 (2021)
مصطلحات موضوعية: Leigh Syndrome, Nadh Ubiquinone Oxidoreductase, Ndufa12, Mitochondrial Disease
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33715266; info:eu-repo/semantics/altIdentifier/wos/WOS:000632521800001; info:eu-repo/semantics/altIdentifier/isbn/1059-7794; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=61540Test; urn:isbn:1059-7794; urn:issn:1059-7794; urn:issn:1098-1004
الإتاحة: https://doi.org/10.1002/humu.24195Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=61540Test -
5دورية أكاديمية
المؤلفون: Martinelli, S, Cordeddu, V, Galosi, S, Lanzo, A, Palma, E, Pannone, L, Ciolfi, A, Di Nottia, M, Rizza, T, Bocchinfuso, G, Traversa, A, Caputo, V, Farrotti, A, Carducci, C, Bernardini, L, Cogo, S, Paglione, M, Venditti, M, Bentivoglio, A, Ng, J, Kurian, MA, Civiero, L, Greggio, E, Stella, L, Trettel, F, Sciaccaluga, M, Roseti, C, Carrozzo, R, Fucile, S, Limatola, C, Di Schiavi, E, Tartaglia, M, Leuzzi, V
المصدر: Parkinsonism & Related Disorders , 72 pp. 75-79. (2020)
مصطلحات موضوعية: Aminoacyl-tRNA synthetase, CHRNA6, Infantile parkinsonism, Nicotinic acetylcholine receptor, WARS2
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10095066/3/Kurian_CHRNA6.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10095066Test/
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6دورية أكاديمية
المؤلفون: Nasca A., Rizza T., Doimo M., Legati A., Ciolfi A., Diodato D., Calderan C., Carrara G., Lamantea E., Aiello C., Di Nottia M., Niceta M., Lamperti C., Ardissone A., Bianchi-Marzoli S., Iarossi G., Bertini E., Moroni I., Tartaglia M., Salviati L., Carrozzo R., Ghezzi D.
المساهمون: Nasca, A., Rizza, T., Doimo, M., Legati, A., Ciolfi, A., Diodato, D., Calderan, C., Carrara, G., Lamantea, E., Aiello, C., Di Nottia, M., Niceta, M., Lamperti, C., Ardissone, A., Bianchi-Marzoli, S., Iarossi, G., Bertini, E., Moroni, I., Tartaglia, M., Salviati, L., Carrozzo, R., Ghezzi, D.
مصطلحات موضوعية: Encephalopathy, Mitochondrial disorder, OPA1, Optic atrophy, Recessive trait, Targeted resequencing, WES, Blotting, Western, Brain Disease, Child, Preschool, Electrophysiology, GTP Phosphohydrolase, Human, Infant, Male, Microscopy, Fluorescence, Mutation, Autosomal Dominant, Tomography, Optical Coherence, Whole Exome Sequencing
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28494813; info:eu-repo/semantics/altIdentifier/wos/WOS:000401180700002; volume:12; issue:1; firstpage:1; lastpage:10; numberofpages:10; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11577/3405079Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018923242
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7دورية أكاديمية
المؤلفون: Carpentieri G., Leoni C., Pietraforte D., Cecchetti S., Iorio E., Belardo A., Pietrucci D., Di Nottia M., Pajalunga D., Megiorni F., Mercurio L., Tatti M., Camero S., Marchese C., Rizza T., Tirelli V., Onesimo R., Carrozzo R., Rinalducci S., Chillemi G., Zampino G., Tartaglia M., Flex E.
المساهمون: Carpentieri, G., Leoni, C., Pietraforte, D., Cecchetti, S., Iorio, E., Belardo, A., Pietrucci, D., Di Nottia, M., Pajalunga, D., Megiorni, F., Mercurio, L., Tatti, M., Camero, S., Marchese, C., Rizza, T., Tirelli, V., Onesimo, R., Carrozzo, R., Rinalducci, S., Chillemi, G., Zampino, G., Tartaglia, M., Flex, E.
مصطلحات موضوعية: Fibroblast, human, oxidation-reduction, Phosphatidylinositol 3-kinase, proto-oncogene proteins p21(ras), signal transduction, Costello syndrome
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34508588; info:eu-repo/semantics/altIdentifier/wos/WOS:000776693700007; volume:31; issue:4; firstpage:561; lastpage:575; numberofpages:15; journal:HUMAN MOLECULAR GENETICS; https://hdl.handle.net/11573/1637923Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85124211946
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8دورية أكاديمية
المؤلفون: Martinelli S., Cordeddu V., Galosi S., Lanzo A., Palma E., Pannone L., Ciolfi A., Di Nottia M., Rizza T., Bocchinfuso G., Traversa A., Caputo V., Farrotti A., Carducci C., Bernardini L., Cogo S., Paglione M., Venditti M., Bentivoglio A., Ng J., Kurian M. A., Civiero L., Greggio E., Stella L., Trettel F., Sciaccaluga M., Roseti C., Carrozzo R., Fucile S., Limatola C., Di Schiavi E., Tartaglia M., Leuzzi V.
المساهمون: Martinelli, S, Cordeddu, V, Galosi, S, Lanzo, A, Palma, E, Pannone, L, Ciolfi, A, Di Nottia, M, Rizza, T, Bocchinfuso, G, Traversa, A, Caputo, V, Farrotti, A, Carducci, C, Bernardini, L, Cogo, S, Paglione, M, Venditti, M, Bentivoglio, A, Ng, J, Kurian, Ma, Civiero, L, Greggio, E, Stella, L, Trettel, F, Sciaccaluga, M, Roseti, C, Carrozzo, R, Fucile, S, Limatola, C, Di Schiavi, E, Tartaglia, M, Leuzzi, V
مصطلحات موضوعية: Aminoacyl-tRNA synthetase, CHRNA6, Infantile parkinsonism, Nicotinic acetylcholine receptor, WARS2, Settore CHIM/02 - CHIMICA FISICA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32120303; info:eu-repo/semantics/altIdentifier/wos/WOS:000527333100013; volume:72; firstpage:75; lastpage:79; numberofpages:5; journal:PARKINSONISM & RELATED DISORDERS; http://hdl.handle.net/2108/245419Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85080039205
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9دورية أكاديمية
المؤلفون: Torraco, A, Nasca, A, Verrigni, D, Pennisi, A, Zaki, MS, Olivieri, G, Assouline, Z, Martinelli, D, Maroofian, R, Rizza, T, Di Nottia, M, Invernizzi, F, Lamantea, E, Longo, D, Houlden, H, Prokisch, H, Rötig, A, Dionisi-Vici, C, Bertini, E, Ghezzi, D, Carrozzo, R, Diodato, D
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113090/1/humu.24195.pdfTest; Torraco, A; Nasca, A; Verrigni, D; Pennisi, A; Zaki, MS; Olivieri, G; Assouline, Z; Martinelli, D; Maroofian, R; Rizza, T; et al. Torraco, A; Nasca, A; Verrigni, D; Pennisi, A; Zaki, MS; Olivieri, G; Assouline, Z; Martinelli, D; Maroofian, R; Rizza, T; Di Nottia, M; Invernizzi, F; Lamantea, E; Longo, D; Houlden, H; Prokisch, H; Rötig, A; Dionisi-Vici, C; Bertini, E; Ghezzi, D; Carrozzo, R; Diodato, D (2021) Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation. Hum Mutat, 42 (6). pp. 699-710. ISSN 1098-1004 https://doi.org/10.1002/humu.24195Test SGUL Authors: Maroofian, Reza
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10دورية أكاديمية
المؤلفون: Galosi S., Barca E., Carrozzo R., Schirinzi T., Quinzii C. M., Lieto M., Vasco G., Zanni G., Di Nottia M., Galatolo D., Filla A., Bertini E., Santorelli F. M., Leuzzi V., Haas R., Hirano M., Friedman J.
المساهمون: Galosi, S., Barca, E., Carrozzo, R., Schirinzi, T., Quinzii, C. M., Lieto, M., Vasco, G., Zanni, G., Di Nottia, M., Galatolo, D., Filla, A., Bertini, E., Santorelli, F. M., Leuzzi, V., Haas, R., Hirano, M., Friedman, J.
مصطلحات موضوعية: COQ8A, CoQ, deficiency, Dystonia-ataxia syndrome, Handwriting deterioration, Adult, Child, Female, Human, Male, Middle Aged, Mitochondrial Protein, Ubiquinone, Young Adult, Ataxia, Disease Progression, Dystonic Disorder, Handwriting, Heterozygote, Mitochondrial Disease, Muscle Weakness
الوقت: 10
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31621627; info:eu-repo/semantics/altIdentifier/wos/WOS:000503086600003; volume:68; firstpage:8; lastpage:16; numberofpages:9; journal:PARKINSONISM & RELATED DISORDERS; http://hdl.handle.net/11573/1517200Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072776482
الإتاحة: https://doi.org/10.1016/j.parkreldis.2019.09.015Test
http://hdl.handle.net/11573/1517200Test
النص الكامل