المؤلفون: R. K. J. Olsen, E. KoåˆaåTMã­kovã¡, T. A. Giancaspero, S. Mosegaard, V. Boczonadi, L. Matakoviä‡, A. Veauville Merllié, C. Terrile, T. Schwarzmayr, T. B. Haack, M. Auranen, P. Leone, M. Galluccio, A. Imbard, P. Gutierrez Rios, J. Palmfeldt, E. Graf, C. Vianey Saban, M. Oppenheim, M. Schiff, S. Pichard, O. Rigal, A. Pyle, P. F. Chinnery, V. Konstantopoulou, D. Mã¶slinger, R. G. Feichtinger, B. Talim, H. Topaloglu, T. Coskun, S. Gucer, A. Botta, E. Pegoraro, A. Malena, L. Vergani, D. Mazzã, M. Zollino, D. Ghezzi, C. Acquaviva, T. Tyni, A. Boneh, T. Meitinger, T. M. Strom, N. Gregersen, J. A. Mayr, R. Horvath, M. Barile, H. Prokisch

المساهمون: R.K.J. Olsen, E. KoåˆaåTMã­kovã¡, T.A. Giancaspero, S. Mosegaard, V. Boczonadi, L. Matakoviä‡, A. Veauville Merllié, C. Terrile, T. Schwarzmayr, T.B. Haack, M. Auranen, P. Leone, M. Galluccio, A. Imbard, P. Gutierrez Rio, J. Palmfeldt, E. Graf, C. Vianey Saban, M. Oppenheim, M. Schiff, S. Pichard, O. Rigal, A. Pyle, P.F. Chinnery, V. Konstantopoulou, D. Mã¶slinger, R.G. Feichtinger, B. Talim, H. Topaloglu, T. Coskun, S. Gucer, A. Botta, E. Pegoraro, A. Malena, L. Vergani, D. Mazzã, M. Zollino, D. Ghezzi, C. Acquaviva, T. Tyni, A. Boneh, T. Meitinger, T.M. Strom, N. Gregersen, J.A. Mayr, R. Horvath, M. Barile, H. Prokisch

مصطلحات موضوعية: adult, blotting, western, case-control studie, cells, cultured, electron transport, female, fibroblast, flavin-adenine dinucleotide, frameshift mutation, gene expression profiling, human, infant, newborn, liver, male, mitochondrial disease, multiple acyl coenzyme a dehydrogenase deficiency, muscle, skeletal, mutagenesis, site-directed, nucleotidyltransferase, protein binding, rna, messenger, real-time polymerase chain reaction, reverse transcriptase polymerase chain reaction, riboflavin

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27259049; info:eu-repo/semantics/altIdentifier/wos/WOS:000377286000008; volume:98; issue:6; firstpage:1130; lastpage:1145; numberofpages:16; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/523684Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84971568098

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.04.006Test
http://hdl.handle.net/2434/523684Test

المؤلفون: N. Maio, D. Ghezzi, D. Verrigni, T. Rizza, E. Bertini, D. Martinelli, M. Zeviani, A. Singh, R. Carrozzo, T. A. Rouault

المساهمون: N. Maio, D. Ghezzi, D. Verrigni, T. Rizza, E. Bertini, D. Martinelli, M. Zeviani, A. Singh, R. Carrozzo, T.A. Rouault

مصطلحات موضوعية: amino acid motif, amino acid sequence, Electron Transport Complex II, female, HEK293 cell, human, hypoxia-inducible factor 1, alpha subunit, infant, newborn, iron-sulfur protein, leukoencephalopathie, molecular chaperone, molecular sequence data, mutation, protein binding, protein, riboflavin, succinate dehydrogenase, succinate, physiology, molecular biology, cell biology, Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26749241; info:eu-repo/semantics/altIdentifier/wos/WOS:000373613800008; volume:23; issue:2; firstpage:292; lastpage:302; numberofpages:11; journal:CELL METABOLISM; http://hdl.handle.net/2434/523741Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84957933845

الإتاحة: https://doi.org/10.1016/j.cmet.2015.12.005Test
http://hdl.handle.net/2434/523741Test

المؤلفون: D. Tonduti, G. Zorzi, F. Zibordi, B. Garavaglia, N. Nardocci, D. Ghezzi

المساهمون: D. Tonduti, G. Zorzi, D. Ghezzi, F. Zibordi, B. Garavaglia, N. Nardocci

مصطلحات موضوعية: dystonia, hypokinetic-rigid syndrome, movement disorder, neurotransmitter disorder, adolescent, anti-dyskinesia agent, child, preschool, female, human, infant, newborn, levodopa, male, neurotransmitter agent, young adult, pediatrics, perinatology and child health, neurology (clinical), Settore MED/03 - Genetica Medica, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25907776; info:eu-repo/semantics/altIdentifier/wos/WOS:000363217700013; volume:30; issue:13; firstpage:1800; lastpage:1805; numberofpages:6; journal:JOURNAL OF CHILD NEUROLOGY; http://hdl.handle.net/2434/523748Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84944408988

الإتاحة: https://doi.org/10.1177/0883073815581608Test
http://hdl.handle.net/2434/523748Test

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: X. Gai, M. A. Johnson, C. A. Biagosch, H. E. Shamseldin, T. B. Haack, A. Reyes, M. Tsukikawa, C. A. Sheldon, S. Srinivasan, M. Gorza, L. S. Kremer, T. Wieland, T. M. Strom, E. Polyak, E. Place, M. Consugar, J. Ostrovsky, S. Vidoni, A. J. Robinson, L. Wong, N. Sondheimer, M. A. Salih, E. Al Jishi, C. P. Raab, C. Bean, F. Furlan, R. Parini, C. Lamperti, J. A. Mayr, V. Konstantopoulou, M. Huemer, E. A. Pierce, T. Meitinger, P. Freisinger, W. Sperl, H. Prokisch, F. S. Alkuraya, M. J. Falk, M. Zeviani, D. Ghezzi

المساهمون: X. Gai, D. Ghezzi, M.A. Johnson, C.A. Biagosch, H.E. Shamseldin, T.B. Haack, A. Reye, M. Tsukikawa, C.A. Sheldon, S. Srinivasan, M. Gorza, L.S. Kremer, T. Wieland, T.M. Strom, E. Polyak, E. Place, M. Consugar, J. Ostrovsky, S. Vidoni, A.J. Robinson, L. Wong, N. Sondheimer, M.A. Salih, E. Al-Jishi, C.P. Raab, C. Bean, F. Furlan, R. Parini, C. Lamperti, J.A. Mayr, V. Konstantopoulou, M. Huemer, E.A. Pierce, T. Meitinger, P. Freisinger, W. Sperl, H. Prokisch, F.S. Alkuraya, M.J. Falk, M. Zeviani

مصطلحات موضوعية: age of onset, child, preschool, chromosomes, human, pair 6, dna, complementary, f-box protein, female, fibroblast, genes, recessive, hek293 cell, infant, newborn, male, mitochondria, mitochondrial encephalomyopathie, mitochondrial protein, muscle, skeletal, mutant protein, mutation, oxidative phosphorylation, pedigree, protein transport, subcellular fraction, syndrome, ubiquitin-protein ligase

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23993194; info:eu-repo/semantics/altIdentifier/wos/WOS:000330268900007; volume:93; issue:3; firstpage:482; lastpage:495; numberofpages:14; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/523782Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84883780647

الإتاحة: https://doi.org/10.1016/j.ajhg.2013.07.016Test
http://hdl.handle.net/2434/523782Test

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: Ghezzi D., Sevrioukova I., Invernizzi F., Lamperti C., Mora M., D'Adamo P., Novara F., Zuffardi O., Uziel G., Zeviani M.

المساهمون: D. Ghezzi, I. Sevrioukova, F. Invernizzi, C. Lamperti, M. Mora, P. D'Adamo, F. Novara, O. Zuffardi, G. Uziel, M. Zeviani

مصطلحات موضوعية: Apoptosis Inducing Factor, Caspase 3, Computer Simulation, DNA Primer, DNA, Mitochondrial, Dietary Supplement, Electron Transport, Female, Fibroblast, Flavin-Adenine Dinucleotide, Human, In Situ Nick-End Labeling, Infant, Newborn, Magnetic Resonance Imaging, Male, Mitochondrial Encephalomyopathie, Muscle, Skeletal, Mutation, Nervous System Disease, Pedigree, Poly (ADP-Ribose) Polymerase-1, Poly(ADP-ribose) Polymerase, Protein Conformation, Riboflavin, Staurosporine, Twins, Monozygotic

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20362274; info:eu-repo/semantics/altIdentifier/wos/WOS:000276716800016; volume:86; issue:4; firstpage:639; lastpage:649; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/826589Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77950326171

الإتاحة: https://doi.org/10.1016/j.ajhg.2010.03.002Test
http://hdl.handle.net/2434/826589Test

المؤلفون: Marina Mora, Graziella Uziel, Irina F. Sevrioukova, Orsetta Zuffardi, Federica Invernizzi, Pio D'Adamo, Daniele Ghezzi, Francesca Novara, Massimo Zeviani, Costanza Lamperti

المساهمون: D., Ghezzi, I., Sevrioukova, F., Invernizzi, C., Lamperti, M., Mora, D'Adamo, ADAMO PIO, F., Novara, O., Zuffardi, G., Uziel, M., Zeviani

المصدر: The American Journal of Human Genetics. (4):639-649

مصطلحات موضوعية: Mitochondrial encephalomyopathy, Male, DNA Primer, Riboflavin, Respiratory chain, Poly (ADP-Ribose) Polymerase-1, Apoptosis, Gene, drug effect [Skeletal], Apoptosis Inducing Factor, Apoptosis Inducing Factor: genetics, Apoptosis Inducing Factor: metabolism, Caspase 3, Caspase 3: metabolism, Computer Simulation, DNA, DNA Primers, DNA Primers: chemistry, Dietary Supplements, Electron Transport, Electron Transport: physiology, Female, Fibroblasts, Fibroblasts: cytology, Fibroblasts: drug effects, Fibroblasts: metabolism, Flavin-Adenine Dinucleotide, Flavin-Adenine Dinucleotide: metabolism, Genes, Humans, In Situ Nick-End Labeling, Infant, Magnetic Resonance Imaging, Mitochondrial, Mitochondrial Encephalomyopathies, Mitochondrial Encephalomyopathies: genetics, Mitochondrial Encephalomyopathies: metabolism, Mitochondrial Encephalomyopathies: pathology, Mitochondrial: genetics, Mitochondrial: metabolism, Monozygotic, Muscle, Mutation, Mutation: genetics, Nervous System Diseases, Nervous System Diseases: drug therapy, Nervous System Diseases: etiology, Newborn, Pedigree, Poly(ADP-ribose) Polymerases, Poly(ADP-ribose) Polymerases: metabolism, Protein Conformation, Riboflavin: administration \& dosage, Skeletal, Skeletal: cytology, Skeletal: drug effects, Skeletal: metabolism, Staurosporine, Staurosporine: pharmacology, Twins, X-Linked, Genes, X-Linked, Genetics(clinical), genetic [Mitochondrial], Poly(ADP-ribose) Polymerase, metabolism [Poly(ADP-ribose) Polymerases], chemistry [DNA Primers], Apoptosis-inducing factor, pathology [Mitochondrial Encephalomyopathies], metabolism [Fibroblasts], Human, DNA, Mitochondrial, genetic [Mutation], Genetics, metabolism [Caspase 3], Dietary Supplement, metabolism [Mitochondrial], Apoptosi, medicine.disease, metabolism [Skeletal], Monozygotic twin, drug effect [Fibroblasts], Mitochondrion, Mitochondrial Encephalomyopathie, Mitochondrial myopathy, cytology [Fibroblasts], Nervous System Disease, Genetics (clinical), cytology [Skeletal], metabolism [Mitochondrial Encephalomyopathies], physiology [Electron Transport], Biochemistry, metabolism [Flavin-Adenine Dinucleotide], Fibroblast, genetic [Mitochondrial Encephalomyopathies], AIFM1, Infant, Newborn, Muscle, Skeletal, Twins, Monozygotic, Biology, genetic [Apoptosis Inducing Factor], etiology [Nervous System Diseases], Severe X-linked mitochondrial encephalomyopathy, Report, pharmacology [Staurosporine], medicine, Twin, Molecular biology, metabolism [Apoptosis Inducing Factor], drug therapy [Nervous System Diseases], administration \& dosage [Riboflavin]

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64ac9f47428b5dc54035e607c3897c64Test