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

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

المؤلفون: Carrozzo, R, Verrigni, D, Rasmussen, M, de Coo, R, Amartino, H, Bianchi, M, Buhas, D, Mesli, S, Naess, K, Born, AP, Woldseth, B, Prontera, P, Batbayli, M, Ravn, K, Joensen, F, Cordelli, DM, Santorelli, FM, Tulinius, M, Darin, N, Duno, M, Jouvencel, P, Burlina, A, Stangoni, G, Bertini, E, Redonnet-Vernhet, I, Wibrand, F, Dionisi-Vici, C, Uusimaa, J, Vieira, P, Osorio, AN, McFarland, R, Taylor, RW, Holme, E, Ostergaard, E

المصدر: Journal of inherited metabolic disease. 39(2):243-252

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:133006837Test

المؤلفون: Saoura, M, Powell, CA, Kopajtich, R, Alahmad, A, Al-Balool, HH, Albash, B, Alfadhel, M, Alston, CL, Bertini, E, Bonnen, P, Bratkovic, D, Carrozzo, R, Donati, MA, Nottia, MD, Ghezzi, D, Goldstein, A, Haan, E, Horvath, R, Hughes, J, Invernizzi, F, Lamantea, E, Lucas, B, Pinnock, K-G, Pujantell, M, Rahman, S, Rebelo-Guiomar, P, Santra, S, Verrigni, D, McFarland, R, Prokisch, H, Taylor, RW, Levinger, L, Minczuk, M

المصدر: Human Mutation , 40 (10) pp. 1731-1748. (2019)

مصطلحات موضوعية: Mitochondria, RNA, RNase Z, cardiomyopathy, mitochondrial disease

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10074235/1/Rahman%20PDFsam_Rahman%20VOR_Saoura_et_al-2019-Human_Mutation.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10074235Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10074235/1/Rahman%20PDFsam_Rahman%20VOR_Saoura_et_al-2019-Human_Mutation.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10074235Test/

المؤلفون: Dallabona, C, Abbink, TEM, Carrozzo, R, Torraco, A, Legati, A, van Berkel, CGM, Niceta, M, Langella, T, Verrigni, D, Rizza, T, Diodato, D, Piemonte, F, Lamantea, E, Fang, M, Zhang, J, Martinelli, D, Bevivino, E, Dionisi-Vici, C, Vanderver, A, Philip, SG, Kurian, MA, Verma, IC, Bijarnia-Mahay, S, Jacinto, S, Furtado, F, Accorsi, P, Ardissone, A, Moroni, I, Ferrero, I, Tartaglia, M, Goffrini, P, Ghezzi, D, van der Knaap, MS, Bertini, E

مصطلحات موضوعية: Adolescent, Amino Acid Sequence, Child, Humans, Leukoencephalopathy, Progressive Multifocal / diagnosis, Progressive Multifocal / genetics, Mitochondrial Proteins / genetics, Molecular Chaperones / genetics, Molecular Sequence Data, Mutation / genetics, Saccharomyces cerevisiae, HDE NEU PED

العلاقة: Brain . 2016 Mar;139(Pt 3):782-94; http://hdl.handle.net/10400.17/4720Test

الإتاحة: https://doi.org/10.1093/brain/awv392Test
http://hdl.handle.net/10400.17/4720Test

المؤلفون: Dardis A., Zampieri S., Gellera C., Carrozzo R., Cattarossi S., Peruzzo P., Dariol R., Sechi A., Deodato F., Caccia C., Verrigni D., Gasperini S., Fiumara A., Fecarotta S., Carecchio M., Filosto M., Santoro L., Borroni B., Bordugo A., Brancati F., Russo C. V., Di Rocco M., Toscano A., Scarpa M., Bembi B.

المساهمون: Dardis, A, Zampieri, S, Gellera, C, Carrozzo, R, Cattarossi, S, Peruzzo, P, Dariol, R, Sechi, A, Deodato, F, Caccia, C, Verrigni, D, Gasperini, S, Fiumara, A, Fecarotta, S, Carecchio, M, Filosto, M, Santoro, L, Borroni, B, Bordugo, A, Brancati, F, Russo, C, Di Rocco, M, Toscano, A, Scarpa, M, Bembi, B

مصطلحات موضوعية: Mutation, Niemann, NPC1, NPC2, Pick C disease

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32138288; info:eu-repo/semantics/altIdentifier/wos/WOS:000527278800068; volume:9; issue:3; journal:JOURNAL OF CLINICAL MEDICINE; https://hdl.handle.net/10281/485979Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088486687

الإتاحة: https://doi.org/10.3390/jcm9030679Test
https://hdl.handle.net/10281/485979Test

المؤلفون: Brea-Calvo, G., Haack, T.B., Karall, D., Ohtake, A., Invernizzi, F., Carrozzo, R., Kremer, L.S., Dusi, S., Fauth, C., Scholl-Bürgi, S., Graf, E., Ahting, U., Resta, N., Laforgia, N., Verrigni, D., Okazaki, Y., Kohda, M., Martinelli, D., Freisinger, P., Strom, T.M., Meitinger, T., Lamperti, C., Lacson, A., Navas, P., Mayr, J.A., Bertini, E., Murayama, K., Zeviani, M., Prokisch, H., Ghezzi, D.

المصدر: Am. J. Hum. Genet. 96, 309-317 (2015)

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25658047; info:eu-repo/semantics/altIdentifier/wos/WOS:000349276700013; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=43236Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2014.12.023Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=43236Test

المؤلفون: Bianchi M, Rizza T, Verrigni D, Martinelli D, Tozzi G, Torraco A, Piemonte F, Dionisi-Vici C, Nobili V, Francalanci P, Boldrini R, Callea F, Santorelli FM, Bertini E, Carrozzo R.

المساهمون: Bianchi, M, Rizza, T, Verrigni, D, Martinelli, D, Tozzi, G, Torraco, A, Piemonte, F, Dionisi-Vici, C, Nobili, V, Francalanci, P, Boldrini, R, Callea, F, Santorelli, Fm, Bertini, E, Carrozzo, R.

مصطلحات موضوعية: complex i, hepatopathy, mitochondrial disorder, mtdna deletion, oxpho, dna, mitochondrial, fatal outcome, human, infant, kearns-sayre syndrome, liver disease, mitochondrial myopathie, sequence deletion, biophysic, biochemistry, molecular biology, cell biology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22027147; info:eu-repo/semantics/altIdentifier/wos/WOS:000297534800017; volume:415; issue:2; firstpage:300; lastpage:304; numberofpages:5; journal:BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS; http://hdl.handle.net/11573/1178029Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84855901055

الإتاحة: https://doi.org/10.1016/j.bbrc.2011.10.049Test
http://hdl.handle.net/11573/1178029Test

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

الإتاحة: https://doi.org/10.1002/humu.24195Test
https://openaccess.sgul.ac.uk/id/eprint/113090Test/
https://openaccess.sgul.ac.uk/id/eprint/113090/1/humu.24195.pdfTest

المؤلفون: Verrigni D., Di Nottia M., Ardissone A., Baruffini E., Nasca A., Legati A., Bellacchio E., Fagiolari G., Martinelli D., Fusco L., Battaglia D., Trani G., Versienti G., Marchet S., Torraco A., Rizza T., Verardo M., D'Amico A., Diodato D., Moroni I., Lamperti C., Petrini S., Moggio M., Goffrini P., Ghezzi D., Carrozzo R., Bertini E.

المساهمون: Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I., Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R., Bertini, E.

مصطلحات موضوعية: drp1, epileptic encephalopathy, mitochondrial disorder, mitochondrial dynamic, mitochondrial fission, muscle biopsy

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30801875; info:eu-repo/semantics/altIdentifier/wos/WOS:000467076500010; volume:40; issue:5; firstpage:601; lastpage:618; numberofpages:18; journal:HUMAN MUTATION; http://hdl.handle.net/11573/1332017Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85062768267

الإتاحة: https://doi.org/10.1002/humu.23729Test
http://hdl.handle.net/11573/1332017Test