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1دورية 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
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2دورية أكاديمية
المؤلفون: Alahmad A., Nasca A., Heidler J., Thompson K., Olahova M., Legati A., Lamantea E., Meisterknecht J., Spagnolo M., He L., Alameer S., Hakami F., Almehdar A., Ardissone A., Alston C. L., McFarland R., Wittig I., Ghezzi D., Taylor R. W.
المساهمون: A. Alahmad, A. Nasca, J. Heidler, K. Thompson, M. Olahova, A. Legati, E. Lamantea, J. Meisterknecht, M. Spagnolo, L. He, S. Alameer, F. Hakami, A. Almehdar, A. Ardissone, C.L. Alston, R. Mcfarland, I. Wittig, D. Ghezzi, R.W. Taylor
مصطلحات موضوعية: complex I, Leigh syndrome, mitochondrial disease, NDUFC2, OXPHOS, Allele, Child, Electron Transport Complex I, Human, Mitochondrial Protein, Mutation, Leigh Disease, Mitochondrial Diseases, Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32969598; info:eu-repo/semantics/altIdentifier/wos/WOS:000572144600001; volume:12; issue:11; firstpage:1; lastpage:14; numberofpages:14; journal:EMBO MOLECULAR MEDICINE; http://hdl.handle.net/2434/902732Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85091370813
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3دورية أكاديمية
المؤلفون: Ardissone A., Lamantea E., Invernizzi F., Zeviani M., Genitrini S., Moroni I., Uziel G.
المساهمون: Ardissone, A., Lamantea, E., Invernizzi, F., Zeviani, M., Genitrini, S., Moroni, I., Uziel, G.
مصطلحات موضوعية: Encephalomyocardiopathy, Leigh disease, Leukoencephalopathy, Mitochondrial depletions syndrome, Mitochondrial disorder in childhood, Respiratory chain defects
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25323866; info:eu-repo/semantics/altIdentifier/wos/WOS:000344929400014; volume:14; issue:8; firstpage:1069; lastpage:1078; numberofpages:10; journal:CURRENT MOLECULAR MEDICINE; http://hdl.handle.net/11577/3354209Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84911483215
الإتاحة: https://doi.org/10.2174/1566524014666141010155317Test
http://hdl.handle.net/11577/3354209Test -
4دورية أكاديمية
المؤلفون: Bugiani M., Invernizzi F., Alberio S., Briem E., Lamantea E., Carrara F., Moroni I., Farina L., Spada M., Donati M. A., Uziel G., Zeviani M.
المساهمون: Bugiani, M., Invernizzi, F., Alberio, S., Briem, E., Lamantea, E., Carrara, F., Moroni, I., Farina, L., Spada, M., Donati, M. A., Uziel, G., Zeviani, M.
مصطلحات موضوعية: Children, Complex I deficiency, Mitochondrial disorder, mtDNA mutation, Nuclear DNA mutation, Acidosis, Lactic, Cardiomyopathie, Child, DNA, Mitochondrial, Electron Transport Complex I, Human, Infant, Iron-Sulfur Protein, Leigh Disease, Leukoencephalopathy, Progressive Multifocal, Metabolism, Inborn Error, Mitochondrial Protein, NAD(P)H Dehydrogenase (Quinone), NADH Dehydrogenase, Protein, Mutation
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/15576045; info:eu-repo/semantics/altIdentifier/wos/WOS:000225938500006; volume:1659; issue:2-3; firstpage:136; lastpage:147; numberofpages:12; journal:BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS; http://hdl.handle.net/11577/3354368Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-9644275464
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5دورية أكاديمية
المؤلفون: Crimi M., Galbiati S., Moroni I., Bordoni A., Perini M. P., Lamantea E., Sciacco M., Zeviani M., Biunno I., Moggio M., Scarlato G., Comi G. P.
المساهمون: Crimi, M., Galbiati, S., Moroni, I., Bordoni, A., Perini, M. P., Lamantea, E., Sciacco, M., Zeviani, M., Biunno, I., Moggio, M., Scarlato, G., Comi, G. P.
مصطلحات موضوعية: Adolescent, Amino Acid Sequence, Base Sequence, Brain, Electron Transport Complex I, Genetic Predisposition to Disease, Human, Leigh Disease, MELAS Syndrome, Magnetic Resonance Imaging, Male, Mitochondrial Protein, Molecular Sequence Data, Sequence Alignment, Mutation, Missense
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/12796552; info:eu-repo/semantics/altIdentifier/wos/WOS:000183418400033; volume:60; issue:11; firstpage:1857; lastpage:1861; numberofpages:5; journal:NEUROLOGY; http://hdl.handle.net/11577/3354384Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-10744223599
الإتاحة: https://doi.org/10.1212/01.WNL.0000066048.72780.69Test
http://hdl.handle.net/11577/3354384Test -
6دورية أكاديمية
المؤلفون: Canafoglia L., Franceschetti S., Antozzi C., Carrara F., Farina L., Granata T., Lamantea E., Savoiardo M., Uziel G., Villani F., Zeviani M., Avanzini G.
المساهمون: Canafoglia, L., Franceschetti, S., Antozzi, C., Carrara, F., Farina, L., Granata, T., Lamantea, E., Savoiardo, M., Uziel, G., Villani, F., Zeviani, M., Avanzini, G.
مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Brain, Child, Preschool, Electroencephalography, Epilepsy, Female, Human, Infant, Newborn, Leigh Disease, MELAS Syndrome, MERRF Syndrome, Magnetic Resonance Imaging, Male, Mitochondria, Mitochondrial Encephalomyopathie, Phenotype
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/11376185; info:eu-repo/semantics/altIdentifier/wos/WOS:000168738500020; volume:56; issue:10; firstpage:1340; lastpage:1346; numberofpages:7; journal:NEUROLOGY; http://hdl.handle.net/11577/3354475Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0035933047
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7دورية أكاديمية
المؤلفون: Petruzzella V., Vergari R., Puzziferri I., Boffoli D., Lamantea E., Zeviani M., Papa S.
المساهمون: Petruzzella, V., Vergari, R., Puzziferri, I., Boffoli, D., Lamantea, E., Zeviani, M., Papa, S.
مصطلحات موضوعية: Amino Acid Sequence, Base Sequence, Cells, Cultured, DNA, Complementary, Electron Transport Complex I, Electrophoresis, Gel, Two-Dimensional, Female, Human, Infant, Newborn, Leigh Disease, Molecular Sequence Data, NADH Dehydrogenase, NADH, NADPH Oxidoreductase, Codon, Nonsense
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/11181577; info:eu-repo/semantics/altIdentifier/wos/WOS:000167260600011; volume:10; issue:5; firstpage:529; lastpage:535; numberofpages:7; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/11577/3354481Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0035283150
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8دورية أكاديمية
المؤلفون: Wittig, I, Augstein, P, Brown, G K, Fujii, T, Rötig, A, Rustin, P, Munnich, A, Seibel, P, Thorburn, D, Wissinger, B, Tamboom, K, Metspalu, A, Lamantea, E, Zeviani, M, Wehnert, M S
المساهمون: Wittig, I, Augstein, P, Brown, G K, Fujii, T, Rötig, A, Rustin, P, Munnich, A, Seibel, P, Thorburn, D, Wissinger, B, Tamboom, K, Metspalu, A, Lamantea, E, Zeviani, M, Wehnert, M S
مصطلحات موضوعية: Allele, DNA Mutational Analysi, Electron Transport, Electron Transport Complex I, Female, Gene Frequency, Genetic Variation, Human, Leigh Disease, Male, Membrane Protein, NADH Dehydrogenase, NADH, NADPH Oxidoreductase, Nucleic Acid Heteroduplexe, Optic Atrophies, Hereditary, Polymorphism, Single Nucleotide, Sequence Analysis, DNA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/11286378; info:eu-repo/semantics/altIdentifier/wos/WOS:000166866000003; volume:24; issue:1; firstpage:15-27; lastpage:27; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/11577/3354478Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0035100820
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9دورية أكاديمية
المؤلفون: Tiranti V., Corona P., Greco M., Taanman J. -W., Carrara F., Lamantea E., Nijtmans L., Uziel G., Zeviani M.
المساهمون: Tiranti, V., Corona, P., Greco, M., Taanman, J. -W., Carrara, F., Lamantea, E., Nijtmans, L., Uziel, G., Zeviani, M.
مصطلحات موضوعية: Base Sequence, Blotting, Northern, Western, Child, Preschool, DNA, Mitochondrial, Electron Transport Complex IV, Female, Fibroblast, Frameshift Mutation, Genetic Complementation Test, Human, Hybrid Cell, Intellectual Disability, Leigh Disease, Magnetic Resonance Spectroscopy, Male, Mutagenesis, Insertional, Paraparesis, Spastic, Pedigree, Polymorphism, Restriction Fragment Length, Protein Biosynthesi, RNA, Messenger
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/11063732; info:eu-repo/semantics/altIdentifier/wos/WOS:000165277700016; volume:9; issue:18; firstpage:2733; lastpage:2742; numberofpages:10; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/11577/3354482Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0034327415
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10دورية أكاديمية
المؤلفون: Tiranti, V, Lamantea, E, Uziel, G, Zeviani, M, Gasparini, P, Marzella, R, Rocchi, M, Fried, M
المساهمون: Tiranti, V, Lamantea, E, Uziel, G, Zeviani, M, Gasparini, P, Marzella, R, Rocchi, M, Fried, M
مصطلحات موضوعية: Electron Transport Complex IV, Human, Karyotyping, Leigh Disease, Membrane Protein, Mitochondrial Protein, Mutation, Pedigree, Protein, Aneuploidy, Chromosomes, Pair 9
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/10636738; info:eu-repo/semantics/altIdentifier/wos/WOS:000084264400011; volume:36; issue:12; firstpage:927-8; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11577/3354491Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0033462139
