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

الإتاحة: https://doi.org/10.1111/ene.15814Test
https://hdl.handle.net/2434/993969Test

المؤلفون: Mayr J. A., Haack T. B., Graf E., Zimmermann F. A., Wieland T., Haberberger B., Superti-Furga A., Kirschner J., Steinmann B., Baumgartner M. R., Moroni I., Lamantea E., Zeviani M., Rodenburg R. J., Smeitink J., Strom T. M., Meitinger T., Sperl W., Prokisch H.

المساهمون: Mayr, J. A., Haack, T. B., Graf, E., Zimmermann, F. A., Wieland, T., Haberberger, B., Superti-Furga, A., Kirschner, J., Steinmann, B., Baumgartner, M. R., Moroni, I., Lamantea, E., Zeviani, M., Rodenburg, R. J., Smeitink, J., Strom, T. M., Meitinger, T., Sperl, W., Prokisch, H.

مصطلحات موضوعية: Adult, Allele, Cardiomyopathie, Cataract, Child, Exome, Female, Heterozygote, Human, Infant, Newborn, Male, Mitochondria, Mitochondrial ADP, ATP Translocase, Mitochondrial Protein, Muscle, Phenotype, Phospholipid, Phosphotransferases (Alcohol Group Acceptor), Young Adult, Codon, Nonsense

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22284826; info:eu-repo/semantics/altIdentifier/wos/WOS:000300742200013; volume:90; issue:2; firstpage:314; lastpage:320; numberofpages:7; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3354256Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84857043743

الإتاحة: https://doi.org/10.1016/j.ajhg.2011.12.005Test
http://hdl.handle.net/11577/3354256Test

المؤلفون: Haack T. B., Madignier F., Herzer M., Lamantea E., Danhauser K., Invernizzi F., Koch J., Freitag M., Drost R., Hillier I., Haberberger B., Mayr J. A., Ahting U., Tiranti V., Rotig A., Iuso A., Horvath R., Tesarova M., Baric I., Uziel G., Rolinski B., Sperl W., Meitinger T., Zeviani M., Freisinger P., Prokisch H.

المساهمون: Haack, T. B., Madignier, F., Herzer, M., Lamantea, E., Danhauser, K., Invernizzi, F., Koch, J., Freitag, M., Drost, R., Hillier, I., Haberberger, B., Mayr, J. A., Ahting, U., Tiranti, V., Rotig, A., Iuso, A., Horvath, R., Tesarova, M., Baric, I., Uziel, G., Rolinski, B., Sperl, W., Meitinger, T., Zeviani, M., Freisinger, P., Prokisch, H.

مصطلحات موضوعية: DNA Mutational Analysi, Electron Transport Complex I, Genetic Heterogeneity, High-Throughput Screening Assay, Human, Mitochondrial Disease, NADH Dehydrogenase, Phenotype, Genes, Mitochondrial, Mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22200994; info:eu-repo/semantics/altIdentifier/wos/WOS:000299308900004; volume:49; issue:2; firstpage:83; lastpage:89; numberofpages:7; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11577/3354258Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84855987219

الإتاحة: https://doi.org/10.1136/jmedgenet-2011-100577Test
http://hdl.handle.net/11577/3354258Test

المؤلفون: Baruffini E., Horvath R., Dallabona C., Czermin B., Lamantea E., Bindoff L., Invernizzi F., Ferrero I., Zeviani M., Lodi T.

المساهمون: Baruffini, E., Horvath, R., Dallabona, C., Czermin, B., Lamantea, E., Bindoff, L., Invernizzi, F., Ferrero, I., Zeviani, M., Lodi, T.

مصطلحات موضوعية: MIP1, Mitochondrial disease, MtDNA mutability, POLG, ROS scavenger, Yeast model, Amino Acid Sequence, Antioxidant, DNA Polymerase I, DNA Polymerase gamma, DNA-Directed DNA Polymerase, Human, Mitochondria, Molecular Sequence Data, Phenotype, Saccharomyces cerevisiae, Saccharomyces cerevisiae Protein, Sequence Alignment, Point Mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20883824; info:eu-repo/semantics/altIdentifier/wos/WOS:000286450300025; volume:11; issue:1; firstpage:182; lastpage:190; numberofpages:9; journal:MITOCHONDRION; http://hdl.handle.net/11577/3354272Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-78649984326

الإتاحة: https://doi.org/10.1016/j.mito.2010.09.007Test
http://hdl.handle.net/11577/3354272Test

المؤلفون: Orthmann-Murphy J. L., Salsano E., Abrams C. K., Bizzi A., Uziel G., Freidin M. M., Lamantea E., Zeviani M., Scherer S. S., Pareyson D.

المساهمون: Orthmann-Murphy, J. L., Salsano, E., Abrams, C. K., Bizzi, A., Uziel, G., Freidin, M. M., Lamantea, E., Zeviani, M., Scherer, S. S., Pareyson, D.

مصطلحات موضوعية: Connexin, Gap junction, Oligodendrocyte, Pelizaeus-Merzbacher-like disease, Spastic paraplegia, Adult, Brain, Connexin 43, Evoked Potential, Female, HeLa Cell, Human, Magnetic Resonance Imaging, Male, Microscopy, Fluorescence, Middle Aged, Patch-Clamp Technique, Pedigree, Phenotype, Hereditary, Mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19056803; info:eu-repo/semantics/altIdentifier/wos/WOS:000263407700016; volume:132; issue:2; firstpage:426; lastpage:438; numberofpages:13; journal:BRAIN; http://hdl.handle.net/11577/3354303Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-60149110304

الإتاحة: https://doi.org/10.1093/brain/awn328Test
http://hdl.handle.net/11577/3354303Test

المؤلفون: Horvath R., Hudson G., Ferrari G., Futterer N., Ahola S., Lamantea E., Prokisch H., Lochmuller H., McFarland R., Ramesh V., Klopstock T., Freisinger P., Salvi F., Mayr J. A., Santer R., Tesarova M., Zeman J., Udd B., Taylor R. W., Turnbull D., Hanna M., Fialho D., Suomalainen A., Zeviani M., Chinnery P. F.

المساهمون: Horvath, R., Hudson, G., Ferrari, G., Futterer, N., Ahola, S., Lamantea, E., Prokisch, H., Lochmuller, H., Mcfarland, R., Ramesh, V., Klopstock, T., Freisinger, P., Salvi, F., Mayr, J. A., Santer, R., Tesarova, M., Zeman, J., Udd, B., Taylor, R. W., Turnbull, D., Hanna, M., Fialho, D., Suomalainen, A., Zeviani, M., Chinnery, P. F.

مصطلحات موضوعية: Alpers syndrome, Chronic progressive external ophthalmoplegia, Mitochondrial DNA, Mitochondrial encephalopathy, mtDNA, Polymerase gamma, Adolescent, Adult, Age of Onset, Child, Preschool, DNA Polymerase gamma, DNA, Mitochondrial, DNA-Directed DNA Polymerase, Diffuse Cerebral Sclerosis of Schilder, Female, Gene Frequency, Heredodegenerative Disorders, Nervous System, Human, Infant, Male, Middle Aged, Mitochondrial Disease, Mitochondrial Encephalomyopathie, Ophthalmoplegia, Chronic Progressive External, Phenotype, Sex Factor

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16621917; info:eu-repo/semantics/altIdentifier/wos/WOS:000238761200011; volume:129; issue:7; firstpage:1674; lastpage:1684; numberofpages:11; journal:BRAIN; http://hdl.handle.net/11577/3354342Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33745713884

الإتاحة: https://doi.org/10.1093/brain/awl088Test
http://hdl.handle.net/11577/3354342Test

المؤلفون: Palmieri L., Alberio S., Pisano I., Lodi T., Meznaric-Petrusa M., Zidar J., Santoro A., Scarcia P., Fontanesi F., Lamantea E., Ferrero I., Zeviani M.

المساهمون: Palmieri, L., Alberio, S., Pisano, I., Lodi, T., Meznaric-Petrusa, M., Zidar, J., Santoro, A., Scarcia, P., Fontanesi, F., Lamantea, E., Ferrero, I., Zeviani, M.

مصطلحات موضوعية: Adenine Nucleotide Translocator 1, Adult, Amino Acid Sequence, Animal, Cardiomyopathie, Cell Survival, DNA, Mitochondrial, Electron Transport, Human, Mice, Mitochondrial ADP, ATP Translocase, Mitochondrial Myopathie, Molecular Sequence Data, Muscle, Skeletal, Myocardium, Phenotype, Reactive Oxygen Specie, Saccharomyces cerevisiae, Saccharomyces cerevisiae Protein, Sequence Alignment

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16155110; info:eu-repo/semantics/altIdentifier/wos/WOS:000232425600013; volume:14; issue:20; firstpage:3079; lastpage:3088; numberofpages:10; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/11577/3354355Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-27544494568

الإتاحة: https://doi.org/10.1093/hmg/ddi341Test
http://hdl.handle.net/11577/3354355Test

المؤلفون: Agostino A., Invernizzi F., Tiveron C., Fagiolari G., Prelle A., Lamantea E., Giavazzi A., Battaglia G., Tatangelo L., Tiranti V., Zeviani M.

المساهمون: Agostino, A., Invernizzi, F., Tiveron, C., Fagiolari, G., Prelle, A., Lamantea, E., Giavazzi, A., Battaglia, G., Tatangelo, L., Tiranti, V., Zeviani, M.

مصطلحات موضوعية: Allele, Animal, Blotting, Southern, Western, Brain, Cytochrome-c Oxidase Deficiency, Electron Transport Complex IV, Electrophoresis, Polyacrylamide Gel, Female, Genetic Vector, Human, Immunoblotting, Immunohistochemistry, Liver, Male, Membrane Protein, Mice, Knockout, Mitochondrial Disease, Mitochondrial Protein, Models, Genetic, Muscle, Skeletal, Phenotype, Protein, Reverse Transcriptase Polymerase Chain Reaction, Time Factor

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/12566387; info:eu-repo/semantics/altIdentifier/wos/WOS:000181160600005; volume:12; issue:4; firstpage:399; lastpage:413; numberofpages:15; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/11577/3354388Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0037440750

الإتاحة: https://doi.org/10.1093/hmg/ddg038Test
http://hdl.handle.net/11577/3354388Test

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

الإتاحة: https://doi.org/10.1212/WNL.56.10.1340Test
http://hdl.handle.net/11577/3354475Test

المؤلفون: Uziel G., Moroni I., Lamantea E., Fratta G. M., Ciceri E., Carrara F., Zeviani M.

المساهمون: Uziel, G., Moroni, I., Lamantea, E., Fratta, G. M., Ciceri, E., Carrara, F., Zeviani, M.

مصطلحات موضوعية: ATPase, Leigh's syndrome, NARP, Adenosine Triphosphatase, Adult, Age of Onset, Brain, Child, Preschool, DNA Mutational Analysi, DNA, Mitochondrial, Female, Genotype, Human, Infant, Leigh Disease, MELAS Syndrome, Magnetic Resonance Imaging, Male, Mitochondria, Muscle, Mitochondrial Encephalomyopathie, Oxidative Phosphorylation, Pedigree, Phenotype, Retinitis Pigmentosa, Severity of Illness Index, Mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/9221962; info:eu-repo/semantics/altIdentifier/wos/WOS:A1997XJ74600005; volume:63; issue:1; firstpage:16; lastpage:22; numberofpages:7; journal:JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY; http://hdl.handle.net/11577/3354567Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0030749664

الإتاحة: https://doi.org/10.1136/jnnp.63.1.16Test
http://hdl.handle.net/11577/3354567Test