المؤلفون: Lamperti C., Diodato D., Lamantea E., Carrara F., Ghezzi D., Mereghetti P., Rizzi R., Zeviani M.

المساهمون: Lamperti, C., Diodato, D., Lamantea, E., Carrara, F., Ghezzi, D., Mereghetti, P., Rizzi, R., Zeviani, M.

مصطلحات موضوعية: COX, Cytochrome c oxidase, MELAS, Mitochondrial disorder, MTCOI, MtDNA, Mutation, Ragged-red fiber, Respiratory chain, SDH, Stroke-like episode, Cytochrome-c Oxidase Deficiency, DNA, Mitochondrial, Disease Progression, Electron Transport Complex IV, Female, Human, MELAS Syndrome, Magnetic Resonance Imaging, Muscular Disease, Pedigree, Point Mutation, Protein Subunit, Seizure

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22832341; info:eu-repo/semantics/altIdentifier/wos/WOS:000311816100010; volume:22; issue:11; firstpage:990; lastpage:994; numberofpages:5; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11577/3354238Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84868138627

الإتاحة: https://doi.org/10.1016/j.nmd.2012.06.003Test
http://hdl.handle.net/11577/3354238Test

المؤلفون: Galassi G., Lamantea E., Invernizzi F., Tavani F., Pisano I., Ferrero I., Palmieri L., Zeviani M.

المساهمون: Galassi, G., Lamantea, E., Invernizzi, F., Tavani, F., Pisano, I., Ferrero, I., Palmieri, L., Zeviani, M.

مصطلحات موضوعية: ANT1, Mitochondrial DNA, mtDNA multiple deletion, POLG1, Progressive external ophthalmoplegia, Sensory-cerebellar ataxia, Adenine Nucleotide Translocator 1, Adenosine Triphosphate, Adult, DNA Mutational Analysi, DNA Polymerase gamma, DNA-Directed DNA Polymerase, Female, Human, Magnetic Resonance Imaging, Methionine, Mitochondrial Encephalomyopathie, Molecular Sequence Data, Mutation, Time Factor, Valine

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/18504126; info:eu-repo/semantics/altIdentifier/wos/WOS:000258023000006; volume:18; issue:6; firstpage:465; lastpage:470; numberofpages:6; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11577/3354313Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-45449120033

الإتاحة: https://doi.org/10.1016/j.nmd.2008.03.013Test
http://hdl.handle.net/11577/3354313Test

المؤلفون: Lamantea E., Carrara F., Mariotti C., Morandi L., Tiranti V., Zeviani M.

المساهمون: Lamantea, E., Carrara, F., Mariotti, C., Morandi, L., Tiranti, V., Zeviani, M.

مصطلحات موضوعية: Cytochrome b, mtDNA mutation, Myopathy, Respiratory chain complexe, Adult, Cytochrome b Group, DNA, Mitochondrial, Electron Transport, Electron Transport Complex I, Electron Transport Complex III, Female, Human, Mitochondria, Muscle, Skeletal, Muscular Disease, NADH, NADPH Oxidoreductase, Codon, Nonsense

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/11731284; info:eu-repo/semantics/altIdentifier/wos/WOS:000173054900007; volume:12; issue:1; firstpage:49; lastpage:52; numberofpages:4; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11577/3354469Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0036132671

الإتاحة: https://doi.org/10.1016/S0960-8966Test(01)00244-9
http://hdl.handle.net/11577/3354469Test

المؤلفون: Uziel G., Carrara F., Granata T., Lamantea E., Mora M., Zeviani M.

المساهمون: Uziel, G., Carrara, F., Granata, T., Lamantea, E., Mora, M., Zeviani, M.

مصطلحات موضوعية: 3291T→C, mtDNA mutation, Myopathy, Neuromuscular syndrome, Biopsy, Needle, Celiac Disease, Child, DNA Mutational Analysi, DNA, Mitochondrial, Diagnosis, Differential, Electron Transport, Female, Human, MELAS Syndrome, Mitochondrial Myopathie, Muscle Fibers, Fast-Twitch, Muscle, Skeletal, Neuromuscular Disease, Pedigree, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Single-Stranded Conformational, Tomography, X-Ray Computed

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/10899447; info:eu-repo/semantics/altIdentifier/wos/WOS:000088566800004; volume:10; issue:6; firstpage:415; lastpage:418; numberofpages:4; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11577/3354489Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0034256023

الإتاحة: https://doi.org/10.1016/S0960-8966Test(99)00115-7
http://hdl.handle.net/11577/3354489Test

المؤلفون: Tiranti V., Carrara F., Confalonieri P., Mora M., Maffei R. M., Lamantea E., Zeviani M.

المساهمون: Tiranti, V., Carrara, F., Confalonieri, P., Mora, M., Maffei, R. M., Lamantea, E., Zeviani, M.

مصطلحات موضوعية: Cytochrome c oxidase, Mitochondrial tRNA(Lys), Ophthalmoplegia, Adenine, Adult, Autoanalysi, Base Sequence, Epilepsies, Myoclonic, Female, Guanine, Human, Molecular Sequence Data, Nucleic Acid Conformation, Chronic Progressive External, Pedigree, RNA, Mitochondrial, Transfer, Ly, Point Mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/10220860; info:eu-repo/semantics/altIdentifier/wos/WOS:000079629800002; volume:9; issue:2; firstpage:66; lastpage:71; numberofpages:6; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11577/3354496Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0032924716

الإتاحة: https://doi.org/10.1016/S0960-8966Test(98)00103-5
http://hdl.handle.net/11577/3354496Test