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

الاتاحة: https://hdl.handle.net/11585/966217
https://doi.org/10.1016/j.xcrm.2023.101383
https://www.sciencedirect.com/science/article/pii/S2666379123006122?via=ihub

المؤلفون: Peverelli L., Catania A., Marchet S., Ciasca P., Cammarata G., Melzi L., Bellino A., Fancellu R., Lamantea E., Capristo M., Caporali L., La Morgia C., Carelli V., Ghezzi D., Bianchi Marzoli S., Lamperti C.

المساهمون: Peverelli L., Catania A., Marchet S., Ciasca P., Cammarata G., Melzi L., Bellino A., Fancellu R., Lamantea E., Capristo M., Caporali L., La Morgia C., Carelli V., Ghezzi D., Bianchi Marzoli S., Lamperti C.

مصطلحات موضوعية: complex I, Leber optic atrophy, LHON, mitochondrial respiratory chain, transmitochondrial cybrids

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/34177762; info:eu-repo/semantics/altIdentifier/wos/WOS:000664512900001; volume:12; firstpage:657317; lastpage:657317; numberofpages:8; journal:FRONTIERS IN NEUROLOGY; info:eu-repo/grantAgreement/EC/H2020/825575; http://hdl.handle.net/11585/864626; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85108421550; https://doi.org/10.3389/fneur.2021.657317

الاتاحة: http://hdl.handle.net/11585/864626
https://doi.org/10.3389/fneur.2021.657317

المؤلفون: La Morgia C., Maresca A., Amore G., Gramegna L. L., Carbonelli M., Scimonelli E., Danese A., Patergnani S., Caporali L., Tagliavini F., Del Dotto V., Capristo M., Sadun F., Barboni P., Savini G., Evangelisti S., Bianchini C., Valentino M. L., Liguori R., Tonon C., Giorgi C., Pinton P., Lodi R., Carelli V.

المساهمون: La Morgia, C., Maresca, A., Amore, G., Gramegna, L. L., Carbonelli, M., Scimonelli, E., Danese, A., Patergnani, S., Caporali, L., Tagliavini, F., Del Dotto, V., Capristo, M., Sadun, F., Barboni, P., Savini, G., Evangelisti, S., Bianchini, C., Valentino, M. L., Liguori, R., Tonon, C., Giorgi, C., Pinton, P., Lodi, R., Carelli, V.

مصطلحات موضوعية: dominant optic atrophy, unfolded protein response, fiber layer thickness, endoplasmic reticulum, diabetes mellitus, mutations, WFS1, membranes, homeostasis, metabolism

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/32179840; info:eu-repo/semantics/altIdentifier/wos/WOS:000543990300001; volume:10; issue:1; firstpage:4785-1; lastpage:4785-15; numberofpages:15; journal:SCIENTIFIC REPORTS; http://hdl.handle.net/11392/2419477; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85082014117; https://www.nature.com/articles/s41598-020-61735-3

الاتاحة: http://hdl.handle.net/11392/2419477
https://doi.org/10.1038/s41598-020-61735-3
https://www.nature.com/articles/s41598-020-61735-3

المؤلفون: La Morgia C., Maresca A., Amore G., Gramegna L. L., Carbonelli M., Scimonelli E., Danese A., Patergnani S., Caporali L., Tagliavini F., Del Dotto V., Capristo M., Sadun F., Barboni P., Savini G., Evangelisti S., Bianchini C., Valentino M. L., Liguori R., Tonon C., Giorgi C., Pinton P., Lodi R., Carelli V.

المساهمون: La Morgia C., Maresca A., Amore G., Gramegna L.L., Carbonelli M., Scimonelli E., Danese A., Patergnani S., Caporali L., Tagliavini F., Del Dotto V., Capristo M., Sadun F., Barboni P., Savini G., Evangelisti S., Bianchini C., Valentino M.L., Liguori R., Tonon C., Giorgi C., Pinton P., Lodi R., Carelli V.

مصطلحات موضوعية: author correction

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/32576919; info:eu-repo/semantics/altIdentifier/wos/WOS:000543996400001; volume:10; issue:1; firstpage:10398; lastpage:10398; numberofpages:1; journal:SCIENTIFIC REPORTS; https://hdl.handle.net/11585/905540; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85086790228; https://www.nature.com/articles/s41598-020-67203-2

الاتاحة: https://hdl.handle.net/11585/905540
https://doi.org/10.1038/s41598-020-67203-2
https://www.nature.com/articles/s41598-020-67203-2

المؤلفون: Maresca A., Del Dotto V., Romagnoli M., La Morgia C., Di Vito L., Capristo M., Valentino M. L., Carelli V.

المساهمون: Maresca A., Del Dotto V., Romagnoli M., La Morgia C., Di Vito L., Capristo M., Valentino M.L., Carelli V.

مصطلحات موضوعية: Biomarker, Cell free circulating-mtDNA, Creatine, FGF21, GDF-15, Mitochondrial diseases

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/32851462; info:eu-repo/semantics/altIdentifier/wos/WOS:000563151100001; volume:98; issue:10; firstpage:1467; lastpage:1478; numberofpages:12; journal:JOURNAL OF MOLECULAR MEDICINE; https://hdl.handle.net/11585/794135; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089857760; https://link.springer.com/article/10.1007/s00109-020-01967-y

الاتاحة: https://hdl.handle.net/11585/794135
https://doi.org/10.1007/s00109-020-01967-y
https://link.springer.com/article/10.1007/s00109-020-01967-y

المؤلفون: Caporali L., Magri S., Legati A., Del Dotto V., Tagliavini F., Balistreri F., Nasca A., La Morgia C., Carbonelli M., Valentino M. L., Lamantea E., Baratta S., Schols L., Schule R., Barboni P., Cascavilla M. L., Maresca A., Capristo M., Ardissone A., Pareyson D., Cammarata G., Melzi L., Zeviani M., Peverelli L., Lamperti C., Marzoli S. B., Fang M., Synofzik M., Ghezzi D., Carelli V., Taroni F.

المساهمون: Caporali L., Magri S., Legati A., Del Dotto V., Tagliavini F., Balistreri F., Nasca A., La Morgia C., Carbonelli M., Valentino M.L., Lamantea E., Baratta S., Schols L., Schule R., Barboni P., Cascavilla M.L., Maresca A., Capristo M., Ardissone A., Pareyson D., Cammarata G., Melzi L., Zeviani M., Peverelli L., Lamperti C., Marzoli S.B., Fang M., Synofzik M., Ghezzi D., Carelli V., Taroni F.

مصطلحات موضوعية: AFG3L2, OPA1, DOA, optic neuropathy, SCA28

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/32219868; info:eu-repo/semantics/altIdentifier/wos/WOS:000527023600001; volume:88; firstpage:18; lastpage:32; numberofpages:15; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/11585/794138; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85083678159

الاتاحة: http://hdl.handle.net/11585/794138
https://doi.org/10.1002/ana.25723
https://onlinelibrary.wiley.com/doi/10.1002/ana.25723

المؤلفون: Maresca A, Del Dotto V, Capristo M, Scimonelli E, Tagliavini F, Morandi L, Tropeano CV, Caporali L, Mohamed S, Roberti M, Scandiffio L, Zaffagnini M, Rossi J, Cappelletti M, Musiani F, Contin M, Riva R, Liguori R, Pizza F, La Morgia C, Antelmi E, Loguercio Polosa P, Mignot E, Zanna C, Plazzi G, Carelli V

المساهمون: Maresca, A, Del Dotto, V, Capristo, M, Scimonelli, E, Tagliavini, F, Morandi, L, Tropeano, Cv, Caporali, L, Mohamed, S, Roberti, M, Scandiffio, L, Zaffagnini, M, Rossi, J, Cappelletti, M, Musiani, F, Contin, M, Riva, R, Liguori, R, Pizza, F, La Morgia, C, Antelmi, E, Loguercio Polosa, P, Mignot, E, Zanna, C, Plazzi, G, Carelli, V

مصطلحات موضوعية: DNA methyltransferase 1 (DNMT1), mitochondrial disorders, mitochondria

Relation: info:eu-repo/semantics/altIdentifier/pmid/31984424; info:eu-repo/semantics/altIdentifier/wos/WOS:000572094600009; volume:29; issue:11; firstpage:1864; lastpage:1881; numberofpages:18; journal:HUMAN MOLECULAR GENETICS ONLINE; https://hdl.handle.net/11586/264859

الاتاحة: https://hdl.handle.net/11586/264859
https://doi.org/10.1093/hmg/ddaa014

المؤلفون: Gramegna, L. L., Pisano, A., Testa, C., Manners, D. N., D'Angelo, R., Boschetti, E., Giancola, F., Pironi, L., Caporali, L., Capristo, M., Valentino, M. L., Plazzi, G., Casali, C., Dotti, M. T., Cenacchi, G., Hirano, M., Giordano, C., Parchi, P., Rinaldi, R., De Giorgio, R., Lodi, R., Carelli, V., Tonon, C.

المساهمون: Gramegna, L. L., Pisano, A., Testa, C., Manners, D. N., D'Angelo, R., Boschetti, E., Giancola, F., Pironi, L., Caporali, L., Capristo, M., Valentino, M. L., Plazzi, G., Casali, C., Dotti, M. T., Cenacchi, G., Hirano, M., Giordano, C., Parchi, P., Rinaldi, R., De Giorgio, R., Lodi, R., Carelli, V., Tonon, C.

مصطلحات موضوعية: Radiology, Nuclear Medicine and Imaging, Neurology (clinical)

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/29348134; info:eu-repo/semantics/altIdentifier/wos/WOS:000429272400010; volume:39; issue:3; firstpage:427; lastpage:434; numberofpages:8; journal:AJNR, AMERICAN JOURNAL OF NEURORADIOLOGY; http://hdl.handle.net/11365/1070026; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85043698154; http://www.ajnr.org/content/ajnr/39/3/427.full.pdf

الاتاحة: http://hdl.handle.net/11365/1070026
https://doi.org/10.3174/ajnr.A5507
http://www.ajnr.org/content/ajnr/39/3/427.full.pdf

المؤلفون: D'Angelo R, Rinaldi R, Carelli V, Boschetti E, Caporali L, Capristo M, Casali C, Cenacchi G, Gramegna Ll, Lodi R, Pinna Ad, Pironi L, Stanzani M, Tonon C, D'Alessandro R, DE GIORGIO, Roberto

المساهمون: D'Angelo, R, Rinaldi, R, Carelli, V, Boschetti, E, Caporali, L, Capristo, M, Casali, C, Cenacchi, G, Gramegna, Ll, Lodi, R, Pinna, Ad, Pironi, L, Stanzani, M, Tonon, C, D'Alessandro, R, DE GIORGIO, Roberto

مصطلحات موضوعية: Allogenic hematopoietic stem cell transplantation, Mitochondrial neuro-gastro-intestinal encephalomyopathy, Orthotopic liver transplantation, Prevalence

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/27007276; info:eu-repo/semantics/altIdentifier/wos/WOS:000378891200019; volume:37; issue:7; firstpage:1149; lastpage:1151; numberofpages:3; journal:NEUROLOGICAL SCIENCES; http://hdl.handle.net/11392/2374934; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84961845544; https://link.springer.com/article/10.1007%2Fs10072-016-2552-7

الاتاحة: http://hdl.handle.net/11392/2374934
https://doi.org/10.1007/s10072-016-2552-7
https://link.springer.com/article/10.1007%2Fs10072-016-2552-7

المؤلفون: Palombo F., Piccolo B., Saccani E., Fiorini C., Capristo M., Caporali L., Pisani F., Carelli V.

المساهمون: Palombo, F., Piccolo, B., Saccani, E., Fiorini, C., Capristo, M., Caporali, L., Pisani, F., Carelli, V.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000626971000001; volume:185; issue:6; firstpage:1918; lastpage:1921; numberofpages:4; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/11573/1669603; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102243539

الاتاحة: https://hdl.handle.net/11573/1669603
https://doi.org/10.1002/ajmg.a.62153

المؤلفون: CALABRESE, CLAUDIA, IOMMARINI, LUISA, KURELAC, IVANA, Calvaruso M. A., Capristo M., LOLLINI, PIER LUIGI, NANNI, PATRIZIA, BERGAMINI, CHRISTIAN, NICOLETTI, GIORDANO, DE GIOVANNI, CARLA, GHELLI, ANNA MARIA, Giorgio V., Caratozzolo M. F., Marzano F., Manzari C., Betts C. M., CARELLI, VALERIO, CECCARELLI, CLAUDIO, Attimonelli M., Romeo G., FATO, ROMANA, RUGOLO, MICHELA, Tullo A., GASPARRE, GIUSEPPE, PORCELLI, ANNA MARIA

المساهمون: Calabrese C., Iommarini L., Kurelac I., Calvaruso M.A., Capristo M., Lollini P.L., Nanni P., Bergamini C., Nicoletti G., De Giovanni C., Ghelli A., Giorgio V., Caratozzolo M.F., Marzano F., Manzari C., Betts C.M., Carelli V., Ceccarelli C., Attimonelli M., Romeo G., Fato R., Rugolo M., Tullo A., Gasparre G., Porcelli A.M.

مصطلحات موضوعية: HYPOXIA, MITOCHONDRIA, COMPLEX I

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/24280190; volume:1; firstpage:1; lastpage:15; numberofpages:15; journal:CANCER & METABOLISM; http://hdl.handle.net/11585/134656; https://cancerandmetabolism.biomedcentral.com/

الاتاحة: http://hdl.handle.net/11585/134656
https://doi.org/10.1186/2049-3002-1-11
https://cancerandmetabolism.biomedcentral.com/

المؤلفون: Garofalo C, Capristo M, Manara MC, Mancarella C, LANDUZZI, LORENA, Belfiore A, LOLLINI, PIER LUIGI, PICCI, PIERO, SCOTLANDI, KATIA

المساهمون: Garofalo, C, Capristo, M, Manara, Mc, Mancarella, C, Landuzzi, Lorena, Belfiore, A, Lollini, PIER LUIGI, Picci, Piero, Scotlandi, Katia

مصطلحات موضوعية: Metformin, sarcoma, HYPOXIA

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/24391834; info:eu-repo/semantics/altIdentifier/wos/WOS:000329325200132; volume:8; issue:12; firstpage:1; lastpage:12; numberofpages:12; journal:PLOS ONE; http://hdl.handle.net/11585/375479; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84896714232; https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0083832

الاتاحة: http://hdl.handle.net/11585/375479
https://doi.org/10.1371/journal.pone.0083832
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0083832

المؤلفون: D'Angelo R., Boschetti E., Amore G., Costa R., Pugliese A., Caporali L., Gramegna L. L., Papa V., Vizioli L., Capristo M., Contin M., Mohamed S., Cenacchi G., Lodi R., Morelli M. C., Fasano L., Pisani L., Cescon M., Tonon C., Pinna A. D., Dotti M. T., Sicurelli F., Scarpelli M., Filosto M., Casali C., Pironi L., Carelli V., De Giorgio R., Rinaldi R.

المساهمون: D'Angelo R., Boschetti E., Amore G., Costa R., Pugliese A., Caporali L., Gramegna L. L., Papa V., Vizioli L., Capristo M., Contin M., Mohamed S., Cenacchi G., Lodi R., Morelli M. C., Fasano L., Pisani L., Cescon M., Tonon C., Pinna A. D., Dotti M. T., Sicurelli F., Scarpelli M., Filosto M., Casali C., Pironi L., Carelli V., De Giorgio R., Rinaldi R.

مصطلحات موضوعية: Allogenic hematopoietic stem cell transplantation, Liver transplantation, Mitochondrial neurogastrointestinal encephalomyopathy, Thymidine phosphorylase

Relation: info:eu-repo/semantics/altIdentifier/pmid/32683607; info:eu-repo/semantics/altIdentifier/wos/WOS:000549793600001; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/11379/533439; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088097701

الاتاحة: http://hdl.handle.net/11379/533439
https://doi.org/10.1007/s00415-020-10051-x

المؤلفون: Stenton, S., Sheremet, N.L., Catarino, C.B., Andreeva, N., Assouline, Z., Barboni, P., Barel, O., Berutti, R., Bychkov, I.O., Caporali, L., Capristo, M., Carbonelli, M., Cascavilla, M.L., Charbel Issa, P., Freisinger, P., Gerber, S., Ghezzi, D., Graf, E., Heidler, J., Hempel, M., Héon, E., Itkis, Y.S., Javasky, E., Kaplan, J., Kopajtich, R., Kornblum, C., Kovács-Nagy, R., Krylova, T., Kunz, W.S., La Morgia, C., Lamperti, C., Ludwig, C., Malacarne, P.F., Maresca, A., Mayr, J.A., Meisterknecht, J., Nevinitsyna, T., Palombo, F., Pode-Shakked, B., Shmelkova, M.S., Strom, T.M., Tagliavini, F., Tzadok, M., van der Ven, A.T., Vignal-Clermont, C., Wagner, M., Zakharova, E., Zhorzholadze, N., Rozet, J.M., Carelli, V., Tsygankova, P., Klopstock, T., Wittig, I., Prokisch, H.

المصدر: J. Clin. Invest. 131:e138267 (2021)

مصطلحات موضوعية: Genetic Diseases, Genetics, Neuroscience

Relation: info:eu-repo/semantics/altIdentifier/pmid/33465056; info:eu-repo/semantics/altIdentifier/wos/WOS:000663118600006; info:eu-repo/semantics/altIdentifier/isbn/0021-9738; info:eu-repo/semantics/altIdent

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61088
https://doi.org/10.1172/JCI138267

المؤلفون: Iommarini L, Kurelac I, Capristo M, Calvaruso MA, Bergamini C, Ghelli A, Nanni P, De Giovanni C, Carelli V, Fato R, Lollini PL, Rugolo M, Gasparre G, Porcelli AM, GIORGIO, VALENTINA

المساهمون: Iommarini, L, Kurelac, I, Capristo, M, Calvaruso, Ma, Giorgio, Valentina, Bergamini, C, Ghelli, A, Nanni, P, De Giovanni, C, Carelli, V, Fato, R, Lollini, Pl, Rugolo, M, Gasparre, G, Porcelli, Am

Relation: journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/11577/2835779

الاتاحة: http://hdl.handle.net/11577/2835779

المؤلفون: ROSSI, Francesco, MANGRELLA M, PATERNO E, IMPERATORE F, CAPRISTO M, IMPERATORE C, GUARINO A.

المساهمون: Rossi, Francesco, Mangrella, M, Paterno, E, Imperatore, F, Capristo, M, Imperatore, C, Guarino, A.

Relation: info:eu-repo/semantics/altIdentifier/pmid/9264900; volume:147; firstpage:475; lastpage:488; journal:LA CLINICA TERAPEUTICA; http://hdl.handle.net/11591/204618

الاتاحة: http://hdl.handle.net/11591/204618

المؤلفون: Cazzola, M., Noschese, P., Capristo, M., Cicchitto, G., Girbino, Giuseppe

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3978::5e120361fd0cced3c1bce756df65ce3a
http://hdl.handle.net/11570/1895690

المؤلفون: Lorenzo Peverelli, Alessia Catania, Silvia Marchet, Paola Ciasca, Gabriella Cammarata, Lisa Melzi, Antonella Bellino, Roberto Fancellu, Eleonora Lamantea, Mariantonietta Capristo, Leonardo Caporali, Chiara La Morgia, Valerio Carelli, Daniele Ghezzi, Stefania Bianchi Marzoli, Costanza Lamperti

المساهمون: Peverelli L., Catania A., Marchet S., Ciasca P., Cammarata G., Melzi L., Bellino A., Fancellu R., Lamantea E., Capristo M., Caporali L., La Morgia C., Carelli V., Ghezzi D., Bianchi Marzoli S., Lamperti C.

المصدر: Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology

مصطلحات موضوعية: 0301 basic medicine, Mitochondrial DNA, congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, mitochondrial respiratory chain, Biology, Optic neuropathy, 03 medical and health sciences, LHON, 0302 clinical medicine, medicine, Missense mutation, Leber optic atrophy, RC346-429, Gene, Sequence (medicine), Genetics, transmitochondrial cybrids, complex I, Point mutation, Leber's hereditary optic neuropathy, Brief Research Report, medicine.disease, eye diseases, 030104 developmental biology, Mitochondrial respiratory chain, Neurology, Neurology (clinical), Neurology. Diseases of the nervous system, 030217 neurology & neurosurgery

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b504022a573ac2dd00e2e19784023e9
https://www.frontiersin.org/articles/10.3389/fneur.2021.657317/full

المؤلفون: Yulya S. Itkis, Maja Hempel, Ben Pode-Shakked, Piero Barboni, N.L. Sheremet, Polina G. Tsygankova, Riccardo Berutti, Valerio Carelli, Chiara La Morgia, Daniele Ghezzi, Leonardo Caporali, Jean-Michel Rozet, Natalia A. Andreeva, Amelie T van der Ven, Peter Charbel Issa, Wolfram S. Kunz, Sarah L. Stenton, Claudia B. Catarino, Johannes A. Mayr, Matias Wagner, Maria Lucia Cascavilla, Flavia Palombo, Reka Kovacs-Nagy, Ilka Wittig, Alessandra Maresca, Pedro Felipe Malacarne, Thomas Klopstock, Costanza Lamperti, Sylvie Gerber, Cornelia Kornblum, Holger Prokisch, Nino V. Zhorzholadze, Jana Meisterknecht, Robert Kopajtich, Tatiana A. Nevinitsyna, Ekaterina Zakharova, Michele Carbonelli, Tatiana D. Krylova, Michal Tzadok, Elisabeth Graf, Zahra Assouline, Francesca Tagliavini, Josseline Kaplan, Maria S. Shmelkova, Mariantonietta Capristo, Elise Héon, Ortal Barel, Peter Freisinger, Elisheva Javasky, Igor Bychkov, Christina Ludwig, Tim M. Strom, Catherine Vignal-Clermont, Juliana Heidler

المساهمون: Stenton S.L., Sheremet N.L., Catarino C.B., Andreeva N.A., Assouline Z., Barboni P., Barel O., Berutti R., Bychkov I., Caporali L., Capristo M., Carbonelli M., Cascavilla M.L., Charbel Issa P., Freisinger P., Gerber S., Ghezzi D., Graf E., Heidler J., Hempel M., Heon E., Itkis Y.S., Javasky E., Kaplan J., Kopajtich R., Kornblum C., Kovacs-Nagy R., Krylova T.D., Kunz W.S., La Morgia C., Lamperti C., Ludwig C., Malacarne P.F., Maresca A., Mayr J.A., Meisterknecht J., Nevinitsyna T.A., Palombo F., Pode-Shakked B., Shmelkova M.S., Strom T.M., Tagliavini F., Tzadok M., Van der Ven A.T., Vignal-Clermont C., Wagner M., Zakharova E.Y., Zhorzholadze N.V., Rozet J.-M., Carelli V., Tsygankova P.G., Klopstock T., Wittig I., Prokisch H.

المصدر: The journal of clinical investigation 131(6), e138267 (2021). doi:10.1172/JCI138267
J Clin Invest

مصطلحات موضوعية: Male, 0301 basic medicine, chemistry [Electron Transport Complex I], genetic structures, deficiency [HSP40 Heat-Shock Proteins], Genetic disease, Respiratory chain, Penetrance, metabolism [Optic Atrophy, Hereditary, Leber], Gene Knockout Techniques, metabolism [HSP40 Heat-Shock Proteins], 0302 clinical medicine, Idebenone, metabolism [Reactive Oxygen Species], Protein Subunit, Genetics, Homozygote, Gene Knockout Technique, Leber's hereditary optic neuropathy, General Medicine, Middle Aged, Pedigree, Phenotype, Child, Preschool, 030220 oncology & carcinogenesis, Female, Reactive Oxygen Specie, genetics [HSP40 Heat-Shock Proteins], Genetic diseases, Human, medicine.drug, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Mitochondrial DNA, Adolescent, Mitochondrial disease, Genes, Recessive, Optic Atrophy, Hereditary, Leber, Biology, Cell Line, Young Adult, 03 medical and health sciences, Genetic, medicine, Humans, ddc:610, metabolism [Electron Transport Complex I], Gene, Electron Transport Complex I, Point mutation, nutritional and metabolic diseases, HSP40 Heat-Shock Proteins, medicine.disease, eye diseases, Protein Subunits, 030104 developmental biology, genetics [Optic Atrophy, Hereditary, Leber], Mutation, Commentary, HSP40 Heat-Shock Protein, Reactive Oxygen Species, Neuroscience

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24bf545cda9fb173a8ffc9ec90e829e6
https://doi.org/10.1172/jci138267

المؤلفون: Elisa Boschetti, R. De Giorgio, Giovanna Cenacchi, Carla Giordano, Giuseppe Plazzi, Michio Hirano, Piero Parchi, Caterina Tonon, David Neil Manners, Fiorella Giancola, Roberto D'Angelo, Maria Lucia Valentino, Loris Pironi, Laura Ludovica Gramegna, Carlo Casali, Raffaele Lodi, Rita Rinaldi, Valerio Carelli, Leonardo Caporali, M. T. Dotti, Mariantonietta Capristo, Annalinda Pisano, Claudia Testa

المساهمون: Gramegna, L L, Pisano, A, Testa, C, Manners, David N, D'Angelo, R, Boschetti, E, Giancola, F, Pironi, L, Caporali, L, Capristo, M, Valentino, Maria Lucia, Plazzi, G, Casali, C, Dotti, M T, Cenacchi, G, Hirano, M, Giordano, C, Parchi, P, Rinaldi, R, De Giorgio, R, Lodi, R, Carelli, V, Tonon, C

المصدر: AJNR Am J Neuroradiol

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Encephalopathy, MNGIE, mitochondrial, Article, 030218 nuclear medicine & medical imaging, White matter, Leukoencephalopathy, 03 medical and health sciences, 0302 clinical medicine, Leukoencephalopathies, Mitochondrial Encephalomyopathies, Nuclear Medicine and Imaging, medicine, Humans, Cytochrome c oxidase, Radiology, Nuclear Medicine and imaging, Thymidine phosphorylase, biology, business.industry, Brain, medicine.disease, Hyperintensity, Mitochondria, Diffusion Magnetic Resonance Imaging, medicine.anatomical_structure, Gliosis, Radiology, Nuclear Medicine and Imaging, Neurology (clinical), Cerebral Small Vessel Diseases, biology.protein, Female, medicine.symptom, Radiology, business, 030217 neurology & neurosurgery, Mitochondrial DNA replication

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::750addbbc19cdf891e21b2abe15a40fe
https://doi.org/10.3174/ajnr.a5507