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1دورية أكاديمية
المؤلفون: Rogac M, Neubauer D, Leonardis L, Pecaric N, Meznaric M, Maver A, Sperl W, Garavaglia BM, Lamantea E, Peterlin B
المصدر: Balkan Journal of Medical Genetics, Vol 24, Iss 2, Pp 5-14 (2022)
مصطلحات موضوعية: exome-sequencing, magnetic resonance imaging (mri), mitochondrial disease (md), nijmegen mitochondrial disease criteria (mdc), muscle biopsy, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1311-0160Test
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2دورية أكاديمية
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
العلاقة: 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/2434/993969Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85153621155
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3دورية أكاديمية
المؤلفون: Zambon A. A., Ghezzi D., Baldoli C., Cutillo G., Fontana K., Sofia V., Patricelli M. G., Nasca A., Vinci S., Spiga I., Lamantea E., Fanelli G. F., Sora M. G. N., Rovelli R., Poloniato A., Carrera P., Filippi M., Barera G.
المساهمون: A.A. Zambon, D. Ghezzi, C. Baldoli, G. Cutillo, K. Fontana, V. Sofia, M.G. Patricelli, A. Nasca, S. Vinci, I. Spiga, E. Lamantea, G.F. Fanelli, M.G.N. Sora, R. Rovelli, A. Poloniato, P. Carrera, M. Filippi, G. Barera
مصطلحات موضوعية: Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37644805; info:eu-repo/semantics/altIdentifier/wos/WOS:001063877200001; volume:10; issue:10; firstpage:1844; lastpage:1853; numberofpages:10; journal:ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY; https://hdl.handle.net/2434/1027828Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85169163105
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4دورية أكاديمية
المؤلفون: Frascarelli C., Zanetti N., Nasca A., Izzo R., Lamperti C., Lamantea E., Legati A., Ghezzi D.
المساهمون: C. Frascarelli, N. Zanetti, A. Nasca, R. Izzo, C. Lamperti, E. Lamantea, A. Legati, D. Ghezzi
مصطلحات موضوعية: MinION, complex-rearrangement, long read, macrodeletion, mtDNA, multiple deletion, oxford nanopore, structural variants, Settore MED/03 - Genetica Medica, Settore BIO/18 - Genetica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37456669; info:eu-repo/semantics/altIdentifier/wos/WOS:001029313700001; volume:14; firstpage:1; lastpage:17; numberofpages:17; journal:FRONTIERS IN GENETICS; https://hdl.handle.net/2434/993816Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85165061839
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5دورية أكاديمية
المؤلفون: Invernizzi F., Izzo R., Colangelo I., Legati A., Zanetti N., Garavaglia B., Lamantea E., Peverelli L., Ardissone A., Moroni I., Maggi L., Bonanno S., Fiori L., Velardo D., Magri F., Comi G. P., Ronchi D., Ghezzi D., Lamperti C.
المساهمون: F. Invernizzi, R. Izzo, I. Colangelo, A. Legati, N. Zanetti, B. Garavaglia, E. Lamantea, L. Peverelli, A. Ardissone, I. Moroni, L. Maggi, S. Bonanno, L. Fiori, D. Velardo, F. Magri, G.P. Comi, D. Ronchi, D. Ghezzi, C. Lamperti
مصطلحات موضوعية: creatine kinase, hyperCKemia, myoglobinuria, Next Generation Sequencing (NGS), rhabdomyolysi, skeletal muscle damage, Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37510298; info:eu-repo/semantics/altIdentifier/wos/WOS:001036056200001; volume:14; issue:7; firstpage:1; lastpage:18; numberofpages:18; journal:GENES; https://hdl.handle.net/2434/993814Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85165879611
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6دورية أكاديميةA novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome
المؤلفون: Lenzini, L., Carecchio, M., Iori, E., Legati, A., Lamantea, E., Avogaro, A., Vitturi, N.
المساهمون: Università degli Studi di Padova, Ministero della Salute
المصدر: Molecular Genetics and Metabolism Reports ; volume 30, page 100830 ; ISSN 2214-4269
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology
الإتاحة: https://doi.org/10.1016/j.ymgmr.2021.100830Test
https://api.elsevier.com/content/article/PII:S2214426921001257?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426921001257?httpAccept=text/plainTest -
7دورية أكاديمية
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
العلاقة: 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/11585/864626Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85108421550; https://doi.org/10.3389/fneur.2021.657317Test
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8دورية أكاديمية
المؤلفون: Bugiardini E., Bottani E., Marchet S., Poole O. V., Beninca C., Horga A., Woodward C., Lam A., Hargreaves I., Chalasani A., Valerio A., Lamantea E., Venner K., Holton J. L., Zeviani M., Houlden H., Quinlivan R., Lamperti C., Hanna M. G., Pitceathly R. D. S.
المساهمون: Bugiardini, E., Bottani, E., Marchet, S., Poole, O. V., Beninca, C., Horga, A., Woodward, C., Lam, A., Hargreaves, I., Chalasani, A., Valerio, A., Lamantea, E., Venner, K., Holton, J. L., Zeviani, M., Houlden, H., Quinlivan, R., Lamperti, C., Hanna, M. G., Pitceathly, R. D. S.
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32042910; info:eu-repo/semantics/altIdentifier/wos/WOS:000530284200001; volume:6; issue:1; firstpage:e381; journal:NEUROLOGY. GENETICS; http://hdl.handle.net/11379/532260Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85081922177; https://ng.neurology.org/content/6/1/e381Test
الإتاحة: https://doi.org/10.1212/NXG.0000000000000381Test
http://hdl.handle.net/11379/532260Test
https://ng.neurology.org/content/6/1/e381Test -
9دورية أكاديمية
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
العلاقة: 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/11585/794138Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85083678159
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10دورية أكاديمية
المؤلفون: Ardissone A., Bruno C., Diodato D., Donati A., Ghezzi D., Lamantea E., Lamperti C., Mancuso M., Martinelli D., Primiano G., Procopio E., Rubegni A., Santorelli F., Schiaffino M. C., Servidei S., Tubili F., Bertini E., Moroni I.
المساهمون: A. Ardissone, C. Bruno, D. Diodato, A. Donati, D. Ghezzi, E. Lamantea, C. Lamperti, M. Mancuso, D. Martinelli, G. Primiano, E. Procopio, A. Rubegni, F. Santorelli, M.C. Schiaffino, S. Servidei, F. Tubili, E. Bertini, I. Moroni
مصطلحات موضوعية: Basal ganglia, Childhood, Leigh syndrome, Mitochondrial disease, Human, Italy, Membrane Protein, Mitochondrial Protein, Mutation, Leigh Disease, Mitochondrial Diseases, Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34627336; info:eu-repo/semantics/altIdentifier/wos/WOS:000705208700006; volume:16; issue:1; firstpage:1; lastpage:12; numberofpages:12; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/2434/902710Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116630941
النص الكامل