المؤلفون: Punzi G., Porcelli V., Ruggiu M., Hossain M. F., Menga A., Scarcia P., Castegna A., Gorgoglione R., Pierri C. L., Laera L., Lasorsa F. M., Paradies E., Pisano I., Marobbio C. M. T., Lamantea E., Ghezzi D., Tiranti V., Giannattasio S., Donati M. A., Guerrini R., Palmieri L., Palmieri F., De Grassi A.

المساهمون: Punzi G., Porcelli V., Ruggiu M., Hossain M.F., Menga A., Scarcia P., Castegna A., Gorgoglione R., Pierri C.L., Laera L., Lasorsa F.M., Paradies E., Pisano I., Marobbio C.M.T., Lamantea E., Ghezzi D., Tiranti V., Giannattasio S., Donati M.A., Guerrini R., Palmieri L., Palmieri F., De Grassi A.

مصطلحات موضوعية: Antioxidant, Brain Disease, Child, DNA, Mitochondrial, Dicarboxylic Acid Transporter, Heterozygote, Human, Male, Metabolism, Inborn Error, Mitochondria, Mitochondrial Disease, Mutation, Oxidative Phosphorylation, Oxidative Stre, Pedigree, RNA Splicing

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29211846; info:eu-repo/semantics/altIdentifier/wos/WOS:000424136000009; volume:27; issue:3; firstpage:499; lastpage:504; numberofpages:6; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/2318/1869079Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85042595293

الإتاحة: https://doi.org/10.1093/hmg/ddx419Test
http://hdl.handle.net/2318/1869079Test

المؤلفون: Nasca A., Rizza T., Doimo M., Legati A., Ciolfi A., Diodato D., Calderan C., Carrara G., Lamantea E., Aiello C., Di Nottia M., Niceta M., Lamperti C., Ardissone A., Bianchi-Marzoli S., Iarossi G., Bertini E., Moroni I., Tartaglia M., Salviati L., Carrozzo R., Ghezzi D.

المساهمون: Nasca, A., Rizza, T., Doimo, M., Legati, A., Ciolfi, A., Diodato, D., Calderan, C., Carrara, G., Lamantea, E., Aiello, C., Di Nottia, M., Niceta, M., Lamperti, C., Ardissone, A., Bianchi-Marzoli, S., Iarossi, G., Bertini, E., Moroni, I., Tartaglia, M., Salviati, L., Carrozzo, R., Ghezzi, D.

مصطلحات موضوعية: Encephalopathy, Mitochondrial disorder, OPA1, Optic atrophy, Recessive trait, Targeted resequencing, WES, Blotting, Western, Brain Disease, Child, Preschool, Electrophysiology, GTP Phosphohydrolase, Human, Infant, Male, Microscopy, Fluorescence, Mutation, Autosomal Dominant, Tomography, Optical Coherence, Whole Exome Sequencing

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28494813; info:eu-repo/semantics/altIdentifier/wos/WOS:000401180700002; volume:12; issue:1; firstpage:1; lastpage:10; numberofpages:10; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11577/3405079Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018923242

الإتاحة: https://doi.org/10.1186/s13023-017-0641-1Test
http://hdl.handle.net/11577/3405079Test

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: ATP-Dependent Protease, ATPases Associated with Diverse Cellular Activitie, Adolescent, Adult, Aged, Child, Female, GTP Phosphohydrolase, Genetic Testing, High-Throughput Nucleotide Sequencing, Human, Male, Middle Aged, Mutation, Optic Atrophy, Optic Nerve Disease, Pedigree, Whole Exome Sequencing, Young Adult

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32219868; info:eu-repo/semantics/altIdentifier/wos/WOS:000527023600001; volume:88; issue:1; firstpage:18; lastpage:32; numberofpages:15; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/11577/3354161Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85083678159

الإتاحة: https://doi.org/10.1002/ana.25723Test
http://hdl.handle.net/11577/3354161Test

المؤلفون: Kasapkara C. S., Tumer L., Zanetti N., Ezgu F., Lamantea E., Zeviani M.

المساهمون: Kasapkara, C. S., Tumer, L., Zanetti, N., Ezgu, F., Lamantea, E., Zeviani, M.

مصطلحات موضوعية: Lactic acidosi, Myopathy, Sideroblastic anemia, Acidosis, Lactic, Anemia, Sideroblastic, Human, Hydro-Lyase, Infant, Male, Muscular Disease, Mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28832011; info:eu-repo/semantics/altIdentifier/wos/WOS:000418383400026; volume:34; issue:4; firstpage:376; lastpage:377; numberofpages:2; journal:TURKISH JOURNAL OF HAEMATOLOGY; http://hdl.handle.net/11577/3354174Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85035030923

الإتاحة: https://doi.org/10.4274/tjh.2017.0231Test
http://hdl.handle.net/11577/3354174Test

المؤلفون: Legati A., Reyes A., Nasca A., Invernizzi F., Lamantea E., Tiranti V., Garavaglia B., Lamperti C., Ardissone A., Moroni I., Robinson A., Ghezzi D., Zeviani M.

المساهمون: Legati, A., Reyes, A., Nasca, A., Invernizzi, F., Lamantea, E., Tiranti, V., Garavaglia, B., Lamperti, C., Ardissone, A., Moroni, I., Robinson, A., Ghezzi, D., Zeviani, M.

مصطلحات موضوعية: E4F1, Mitochondrial disorder, Next Generation Sequencing, Whole Exome sequencing, Adolescent, Amino Acid Sequence, Child, Preschool, Cohort Studie, DNA, Mitochondrial, Electron Transport, Electron Transport Chain Complex Protein, Exome, Female, Gene Expression, Heterozygote, High-Throughput Nucleotide Sequencing, Homozygote, Human, Infant, Male, Mitochondria, Mitochondrial Disease, Molecular Sequence Data, Repressor Protein, Sequence Alignment, Young Adult, Mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26968897; info:eu-repo/semantics/altIdentifier/wos/WOS:000378179300033; volume:1857; issue:8; firstpage:1326; lastpage:1335; numberofpages:10; journal:BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS; http://hdl.handle.net/11577/3354191Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84962199060

الإتاحة: https://doi.org/10.1016/j.bbabio.2016.02.022Test
http://hdl.handle.net/11577/3354191Test

المؤلفون: Reyes A., Melchionda L., Nasca A., Carrara F., Lamantea E., Zanolini A., Lamperti C., Fang M., Zhang J., Ronchi D., Bonato S., Fagiolari G., Moggio M., Ghezzi D., Zeviani M.

المساهمون: Reyes, A., Melchionda, L., Nasca, A., Carrara, F., Lamantea, E., Zanolini, A., Lamperti, C., Fang, M., Zhang, J., Ronchi, D., Bonato, S., Fagiolari, G., Moggio, M., Ghezzi, D., Zeviani, M.

مصطلحات موضوعية: Adult, Amino Acid Sequence, Base Sequence, Blotting, Southern, Western, DNA Replication, DNA, Mitochondrial, Female, High-Throughput Nucleotide Sequencing, Human, Male, Middle Aged, Mitochondrial Encephalomyopathie, Molecular Sequence Data, Mutation, Ophthalmoplegia, Chronic Progressive External, Pedigree, RNA, Ribonuclease H

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26094573; info:eu-repo/semantics/altIdentifier/wos/WOS:000358189500017; volume:97; issue:1; firstpage:186; lastpage:193; numberofpages:8; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3354198Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84937516676

الإتاحة: https://doi.org/10.1016/j.ajhg.2015.05.013Test
http://hdl.handle.net/11577/3354198Test

المؤلفون: Rocca M. A., Bianchi-Marzoli S., Messina R., Cascavilla M. L., Zeviani M., Lamperti C., Milesi J., Carta A., Cammarata G., Leocani L., Lamantea E., Bandello F., Comi G., Falini A., Filippi M.

المساهمون: Rocca, M. A., Bianchi-Marzoli, S., Messina, R., Cascavilla, M. L., Zeviani, M., Lamperti, C., Milesi, J., Carta, A., Cammarata, G., Leocani, L., Lamantea, E., Bandello, F., Comi, G., Falini, A., Filippi, M.

مصطلحات موضوعية: Diffusion tensor MRI, Dominant optic atrophy, Magnetic resonance imaging, Mitochondrial mutation, Optic coherence tomography, Regional atrophy, White matter, Adult, Anisotropy, Diagnostic Techniques, Ophthalmological, Diffusion Magnetic Resonance Imaging, Electroencephalography, Evoked Potentials, Auditory, Female, GTP Phosphohydrolase, Human, Male, Middle Aged, Mutation, Neurologic Examination, Optic Atrophy, Autosomal Dominant, Statistics, Nonparametric, Young Adult

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25794858; info:eu-repo/semantics/altIdentifier/wos/WOS:000354950500014; volume:262; issue:5; firstpage:1216; lastpage:1227; numberofpages:12; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/11577/3354202Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84929844846

الإتاحة: https://doi.org/10.1007/s00415-015-7696-5Test
http://hdl.handle.net/11577/3354202Test

المؤلفون: Kopajtich R., Nicholls T. J., Rorbach J., Metodiev M. D., Freisinger P., Mandel H., Vanlander A., Ghezzi D., Carrozzo R., Taylor R. W., Marquard K., Murayama K., Wieland T., Schwarzmayr T., Mayr J. A., Pearce S. F., Powell C. A., Saada A., Ohtake A., Invernizzi F., Lamantea E., Sommerville E. W., Pyle A., Chinnery P. F., Crushell E., Okazaki Y., Kohda M., Kishita Y., Tokuzawa Y., Assouline Z., Rio M., Feillet F., Mousson De Camaret B., Chretien D., Munnich A., Menten B., Sante T., Smet J., Regal L., Lorber A., Khoury A., Zeviani M., Strom T. M., Meitinger T., Bertini E. S., Van Coster R., Klopstock T., Rotig A., Haack T. B., Minczuk M., Prokisch H.

المساهمون: Kopajtich, R., Nicholls, T. J., Rorbach, J., Metodiev, M. D., Freisinger, P., Mandel, H., Vanlander, A., Ghezzi, D., Carrozzo, R., Taylor, R. W., Marquard, K., Murayama, K., Wieland, T., Schwarzmayr, T., Mayr, J. A., Pearce, S. F., Powell, C. A., Saada, A., Ohtake, A., Invernizzi, F., Lamantea, E., Sommerville, E. W., Pyle, A., Chinnery, P. F., Crushell, E., Okazaki, Y., Kohda, M., Kishita, Y., Tokuzawa, Y., Assouline, Z., Rio, M., Feillet, F., Mousson De Camaret, B., Chretien, D., Munnich, A., Menten, B., Sante, T., Smet, J., Regal, L., Lorber, A., Khoury, A., Zeviani, M., Strom, T. M., Meitinger, T., Bertini, E. S., Van Coster, R., Klopstock, T., Rotig, A., Haack, T. B., Minczuk, M., Prokisch, H.

مصطلحات موضوعية: Acidosis, Lactic, Amino Acid Sequence, Brain, Brain Disease, Cardiomyopathy, Hypertrophic, Cell Line, Child, Preschool, Consanguinity, Female, Fibroblast, GTP-Binding Protein, Human, Infant, Newborn, Male, Molecular Sequence Data, Mutation, Pedigree, Protein Biosynthesi, RNA Interference, RNA, Transfer, Sequence Alignment, Protein Processing, Post-Translational

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25434004; info:eu-repo/semantics/altIdentifier/wos/WOS:000346623100007; volume:95; issue:6; firstpage:708; lastpage:720; numberofpages:13; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3354208Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84919678076

الإتاحة: https://doi.org/10.1016/j.ajhg.2014.10.017Test
http://hdl.handle.net/11577/3354208Test

المؤلفون: Diodato D., Melchionda L., Haack T. B., Dallabona C., Baruffini E., Donnini C., Granata T., Ragona F., Balestri P., Margollicci M., Lamantea E., Nasca A., Powell C. A., Minczuk M., Strom T. M., Meitinger T., Prokisch H., Lamperti C., Zeviani M., Ghezzi D.

المساهمون: Diodato, D., Melchionda, L., Haack, T. B., Dallabona, C., Baruffini, E., Donnini, C., Granata, T., Ragona, F., Balestri, P., Margollicci, M., Lamantea, E., Nasca, A., Powell, C. A., Minczuk, M., Strom, T. M., Meitinger, T., Prokisch, H., Lamperti, C., Zeviani, M., Ghezzi, D.

مصطلحات موضوعية: Aminoacyl tRNA syntethase, Encephalomyopathy, Mitochondrial disease, OXPHOS defect, TARS2, VARS2, Cell Line, Child, DNA, Mitochondrial, Electron Transport Complex I, Fibroblast, HLA Antigen, Heterozygote, Homozygote, Human, Infant, Isoenzyme, Male, Mitochondria, Mitochondrial Encephalomyopathie, Polymorphism, Genetic, RNA, Messenger, Transfer, Thr, Val, Saccharomyces cerevisiae, Threonine-tRNA Ligase

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24827421; info:eu-repo/semantics/altIdentifier/wos/WOS:000339431600012; volume:35; issue:8; firstpage:983; lastpage:989; numberofpages:7; journal:HUMAN MUTATION; http://hdl.handle.net/11577/3354213Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84904406653

الإتاحة: https://doi.org/10.1002/humu.22590Test
http://hdl.handle.net/11577/3354213Test

المؤلفون: Melchionda L., Haack T. B., Hardy S., Abbink T. E. M., Fernandez-Vizarra E., Lamantea E., Marchet S., Morandi L., Moggio M., Carrozzo R., Torraco A., Diodato D., Strom T. M., Meitinger T., Tekturk P., Yapici Z., Al-Murshedi F., Stevens R., Rodenburg R. J., Lamperti C., Ardissone A., Moroni I., Uziel G., Prokisch H., Taylor R. W., Bertini E., Van Der Knaap M. S., Ghezzi D., Zeviani M.

المساهمون: Melchionda, L., Haack, T. B., Hardy, S., Abbink, T. E. M., Fernandez-Vizarra, E., Lamantea, E., Marchet, S., Morandi, L., Moggio, M., Carrozzo, R., Torraco, A., Diodato, D., Strom, T. M., Meitinger, T., Tekturk, P., Yapici, Z., Al-Murshedi, F., Stevens, R., Rodenburg, R. J., Lamperti, C., Ardissone, A., Moroni, I., Uziel, G., Prokisch, H., Taylor, R. W., Bertini, E., Van Der Knaap, M. S., Ghezzi, D., Zeviani, M.

مصطلحات موضوعية: Adolescent, Adult, Apoptosis Regulatory Protein, Cells, Cultured, Child, Preschool, Cytochrome-c Oxidase Deficiency, Electron Transport Complex IV, Female, Fibroblast, Human, Infant, Leukoencephalopathie, Magnetic Resonance Imaging, Male, Mitochondria, Mitochondrial Protein, Mutation, Myoblasts

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25175347; info:eu-repo/semantics/altIdentifier/wos/WOS:000341404100008; volume:95; issue:3; firstpage:315; lastpage:325; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3354211Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84908254396

الإتاحة: https://doi.org/10.1016/j.ajhg.2014.08.003Test
http://hdl.handle.net/11577/3354211Test