المؤلفون: A. Torraco, A. Ardissone, F. Invernizzi, T. Rizza, G. Fiermonte, M. Niceta, N. Zanetti, D. Martinelli, A. Vozza, D. Verrigni, M. Di Nottia, E. Lamantea, D. Diodato, M. Tartaglia, C. Dionisi Vici, I. Moroni, L. Farina, E. Bertini, R. Carrozzo, D. Ghezzi

المساهمون: A. Torraco, A. Ardissone, F. Invernizzi, T. Rizza, G. Fiermonte, M. Niceta, N. Zanetti, D. Martinelli, A. Vozza, D. Verrigni, M. Di Nottia, E. Lamantea, D. Diodato, M. Tartaglia, C. Dionisi Vici, I. Moroni, L. Farina, E. Bertini, D. Ghezzi, R. Carrozzo

مصطلحات موضوعية: IBA57, Leukodystrophy, Mitochondrial disorder, MMDS, Blotting, Western, Brain, Brain Disease, Carrier Protein, Cohort Studie, Female, Fibroblast, Follow-Up Studie, Human, Infant, Magnetic Resonance Imaging, Male, Mitochondria, Neurodegenerative Disease, Phenotype, Protein Stability, Mutation, Neurology, Neurology (clinical), Settore MED/03 - Genetica Medica, Settore MED/39 - Neuropsichiatria Infantile, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27785568; info:eu-repo/semantics/altIdentifier/wos/WOS:000393900500012; volume:264; issue:1; firstpage:102; lastpage:111; numberofpages:10; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/2434/523700Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84992358071

الإتاحة: https://doi.org/10.1007/s00415-016-8312-zTest
http://hdl.handle.net/2434/523700Test

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

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

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, genetic, genetics (clinical)

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/2434/523766Test; 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/2434/523766Test

المؤلفون: E. Baruffini, C. Dallabona, F. Invernizzi, J. W. Yarham, L. Melchionda, E. L. Blakely, E. Lamantea, C. Donnini, S. Santra, S. Vijayaraghavan, H. P. Roper, A. Burlina, R. Kopajtich, A. Walther, T. M. Strom, T. B. Haack, H. Prokisch, R. W. Taylor, I. Ferrero, M. Zeviani, D. Ghezzi

المساهمون: E. Baruffini, C. Dallabona, F. Invernizzi, J.W. Yarham, L. Melchionda, E.L. Blakely, E. Lamantea, C. Donnini, S. Santra, S. Vijayaraghavan, H.P. Roper, A. Burlina, R. Kopajtich, A. Walther, T.M. Strom, T.B. Haack, H. Prokisch, R.W. Taylor, I. Ferrero, M. Zeviani, D. Ghezzi

مصطلحات موضوعية: hypertrophic cardiomyopathy, lactic acidosi, mitochondrial disorder, MTO1, yeast, acidosis, lactic, adolescent, age of onset, amino acid sequence, brain, cardiomyopathy, hypertrophic, carrier protein, child, preschool, DNA mutational analysi, electron transport chain complex protein, female, human, infant, newborn, magnetic resonance imaging, male, models, molecular, molecular sequence data, pedigree, protein conformation, sequence alignment

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23929671; info:eu-repo/semantics/altIdentifier/wos/WOS:000325426900009; volume:34; issue:11; firstpage:1501; lastpage:1509; numberofpages:9; journal:HUMAN MUTATION; http://hdl.handle.net/2434/523778Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84885434357

الإتاحة: https://doi.org/10.1002/humu.22393Test
http://hdl.handle.net/2434/523778Test

المؤلفون: F. Invernizzi, M. Tigano, C. Dallabona, C. Donnini, I. Ferrero, M. Cremonte, C. Lamperti, M. Zeviani, D. Ghezzi

المساهمون: F. Invernizzi, M. Tigano, C. Dallabona, C. Donnini, I. Ferrero, M. Cremonte, D. Ghezzi, C. Lamperti, M. Zeviani

مصطلحات موضوعية: complex iii deficiency, encephalopathy, lactic acidosi, lyrm7, mzm1, yeast model, acidosis, lactic, amino acid sequence, brain, DNA mutational analysi, electron transport complex III, enzyme activation, female, human, infant, magnetic resonance imaging, mitochondrial encephalomyopathie, mitochondrial protein, molecular chaperone, molecular sequence data, pedigree, saccharomyces cerevisiae, sequence alignment, homozygote, mutation, genetic, genetics (clinical), Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24014394; info:eu-repo/semantics/altIdentifier/wos/WOS:000326864200006; volume:34; issue:12; firstpage:1619; lastpage:1622; numberofpages:4; journal:HUMAN MUTATION; http://hdl.handle.net/2434/523780Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84887613215

الإتاحة: https://doi.org/10.1002/humu.22441Test
http://hdl.handle.net/2434/523780Test

المؤلفون: RINALDI, CARLO, C. Grunseich, I. F. Sevrioukova, A. Schindler, I. Horkayne Szakaly, C. Lamperti, G. Landouré, M. L. Kennerson, B. G. Burnett, C. Bönnemann, L. G. Biesecker, D. Ghezzi, M. Zeviani, K. H. Fischbeck

المساهمون: Rinaldi, Carlo, C., Grunseich, I. F., Sevrioukova, A., Schindler, I., Horkayne Szakaly, C., Lamperti, G., Landouré, M. L., Kennerson, B. G., Burnett, C., Bönnemann, L. G., Biesecker, D., Ghezzi, M., Zeviani, K. H., Fischbeck

مصطلحات موضوعية: Apoptosis Inducing Factor, chemistry/genetics/metabolism, Apoptosi, genetics, Base Sequence, Brain, pathology, Cell Nucleu, genetics/metabolism, Charcot-Marie-Tooth Disease, diagnosis/genetics/metabolism, Exons, Hearing Lo, Sensorineural, Humans, Magnetic Resonance Imaging, Male, Mental Retardation, X-Linked, Mitochondria, genetics/metabolism/ultrastructure, Model, Molecular, Muscle, Skeletal, metabolism/pathology/ultrastructure, Mutation, Neuroimaging, Oxidation-Reduction, Pedigree

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000312417400013; volume:91; issue:6; firstpage:1095; lastpage:1102; numberofpages:8; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11588/597934Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84870926172; http://dx.doi.org/10.1016/j.ajhg.2012.10.008Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2012.10.008Test
http://hdl.handle.net/11588/597934Test

المؤلفون: D. Ghezzi, P. Arzuffi, M. Zordan, C. . Re, C. Lamperti, C. Benna, D. Diodato, R. Costa, C. Mariotti, G. Uziel, C. Smiderle, M. Zeviani, D'ADAMO, ADAMO PIO

المساهمون: D., Ghezzi, P., Arzuffi, M., Zordan, Re, C., C., Lamperti, C., Benna, D'Adamo, ADAMO PIO, D., Diodato, R., Costa, C., Mariotti, G., Uziel, C., Smiderle, M., Zeviani

مصطلحات موضوعية: Adult, Animal, Brain, Brain: pathology, Codon, Drosophila melanogaster, Drosophila melanogaster: genetic, Electron Transport Complex III, Electron Transport Complex III: deficiency, Electron Transport Complex III: genetic, Female, Gene Knockdown Technique, Human, Male, Membrane Protein, Membrane Proteins: genetic, Mitochondria, Mitochondria: genetic, Mitochondria: metabolism, Mitochondrial Protein, Mitochondrial Proteins: genetic, Nervous System Disease, Nervous System Diseases: genetic, Nervous System Diseases: pathology, Nonsense

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21278747; info:eu-repo/semantics/altIdentifier/wos/WOS:000287693800018; volume:43; firstpage:259; lastpage:63; journal:NATURE GENETICS; http://hdl.handle.net/11368/2489139Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79952187160; http://www.ncbi.nlm.nih.gov/pubmed/21278747Test http://www.nature.com/ng/journal/v43/n3/full/ng.761.html?WT.ecTest\_id=NG-201103

الإتاحة: https://doi.org/10.1038/ng.761Test
http://hdl.handle.net/11368/2489139Test
http://www.ncbi.nlm.nih.gov/pubmed/21278747Test http://www.nature.com/ng/journal/v43/n3/full/ng.761.html?WT.ecTest\_id=NG-201103

المؤلفون: Rosario Samanin, Gianni Tognoni, M. Gerna, D. Ghezzi, Silvio Garattini, Sergio Bernasconi

المصدر: European journal of pharmacology. 24(2)

مصطلحات موضوعية: Telencephalon, medicine.medical_specialty, Imipramine, Serotonin, Time Factors, Fenfluramine, Appetite, Serotonergic, chemistry.chemical_compound, Norfenfluramine, Dibenzazepines, Desipramine, Internal medicine, medicine, Animals, Diencephalon, 5-HT receptor, Pharmacology, Propylamines, Chemistry, Brain, Antidepressive Agents, Rats, Endocrinology, Tranquilizing Agents, Depression, Chemical, Anorectic, Female, medicine.drug, Brain Stem

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ff0c0ae23d5c44337ed9be8c0abf4a9Test
https://pubmed.ncbi.nlm.nih.gov/4765743Test

المؤلفون: Daniele Ghezzi, Pio D'Adamo, Clara Benna, Caterina Da Re, Rodolfo Costa, Costanza Lamperti, Mauro Agostino Zordan, Caterina Mariotti, Graziella Uziel, Massimo Zeviani, Cristina Smiderle, Paola Arzuffi, Daria Diodato

المساهمون: D., Ghezzi, P., Arzuffi, M., Zordan, Re, C., C., Lamperti, C., Benna, D'Adamo, ADAMO PIO, D., Diodato, R., Costa, C., Mariotti, G., Uziel, C., Smiderle, M., Zeviani

المصدر: Nature Genetics. 43:259-263

مصطلحات موضوعية: Electron Transport Complex III: deficiency, Male, BCS1L, genetic [Mitochondrial Proteins], genetic [Electron Transport Complex III], Mitochondrion, Electron Transport Complex III: genetics, medicine.disease_cause, Electron Transport Complex III, pathology [Brain], Drosophila melanogaster: genetics, Membrane Protein, Nervous System Disease, genetic [Membrane Proteins], Genetics, genetic [Nervous System Diseases], Mutation, deficiency [Electron Transport Complex III], Brain, Membrane Proteins: genetics, genetic [Drosophila melanogaster], Mitochondria, Nervous System Diseases: pathology, Drosophila melanogaster, Codon, Nonsense, Gene Knockdown Techniques, Mitochondrial Complex III Deficiency, Mitochondria: metabolism, Female, Human, Adult, Mitochondria: genetics, Biology, Mitochondrial Proteins, pathology [Nervous System Diseases], Mitochondrial Proteins: genetics, Electron transport complex III, medicine, Mitochondrial Protein, Animals, Humans, Progressive encephalopathy, Codon, Mitochondrial protein, Animal, fungi, Membrane Proteins, Nervous System Diseases: genetics, metabolism [Mitochondria], Brain: pathology, genetic [Mitochondria], Nonsense, Gene Knockdown Technique, Immunology, Nervous System Diseases, Neurological impairment

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25d29c41d0808c577f64b5126e8046f6Test
https://doi.org/10.1038/ng.761Test

المؤلفون: Varrone A., Pellecchia M. T., Amboni M., Sansone V., Salvatore E., Ghezzi D., Garavaglia B., Brice A., Brunetti A., Bonavita V., De Michele G., Salvatore M., Pappata S., Barone P.

المساهمون: A. Varrone, M.T. Pellecchia, M. Amboni, V. Sansone, E. Salvatore, D. Ghezzi, B. Garavaglia, A. Brice, A. Brunetti, V. Bonavita, G. De Michele, M. Salvatore, S. Pappata, P. Barone

مصطلحات موضوعية: Recessive juvenile parkinsonism, transporter binding, gene-mutation, young-onset, system, brain, pet, prampipexole, progression, families, Settore MED/26 - Neurologia, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/15596756; info:eu-repo/semantics/altIdentifier/wos/WOS:000225711400021; volume:63; issue:11; firstpage:2097; lastpage:2103; numberofpages:7; journal:NEUROLOGY; http://hdl.handle.net/2434/781247Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-10444251205

الإتاحة: https://doi.org/10.1212/01.WNL.0000145765.19094.94Test
http://hdl.handle.net/2434/781247Test