المؤلفون: C. Dallabona, T. E. . M. Abbink, R. Carrozzo, A. Torraco, A. Legati, C. G. . M. Van Berkel, M. Niceta, T. Langella, D. Verrigni, T. Rizza, D. Diodato, F. Piemonte, E. Lamantea, M. Fang, J. Zhang, D. Martinelli, E. Bevivino, C. Dionisi Vici, A. Vanderver, S. G. Philip, M. A. Kurian, I. C. Verma, S. Bijarnia Mahay, S. Jacinto, F. Furtado, P. Accorsi, A. Ardissone, I. Moroni, I. Ferrero, M. Tartaglia, P. Goffrini, D. Ghezzi, M. S. Van Der Knaap, E. Bertini

المساهمون: C. Dallabona, T.E.M. Abbink, R. Carrozzo, A. Torraco, A. Legati, C.G.M. Van Berkel, M. Niceta, T. Langella, D. Verrigni, T. Rizza, D. Diodato, F. Piemonte, E. Lamantea, M. Fang, J. Zhang, D. Martinelli, E. Bevivino, C. Dionisi Vici, A. Vanderver, S.G. Philip, M.A. Kurian, I.C. Verma, S. Bijarnia Mahay, S. Jacinto, F. Furtado, P. Accorsi, A. Ardissone, I. Moroni, I. Ferrero, M. Tartaglia, P. Goffrini, D. Ghezzi, M.S. Van Der Knaap, E. Bertini

مصطلحات موضوعية: cavitation, complex iii, leukoencephalopathy, lyrm7, mitochondria, adolescent, amino acid sequence, child, preschool, female, human, infant, progressive multifocal, male, mitochondrial protein, molecular chaperone, molecular sequence data, mutation, saccharomyces cerevisiae, magnetic resonance imaging, medicine (all), arts and humanities (miscellaneous), neurology (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26912632; info:eu-repo/semantics/altIdentifier/wos/WOS:000371694600021; volume:139; issue:3; firstpage:782; lastpage:794; numberofpages:13; journal:BRAIN; http://hdl.handle.net/2434/523694Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84964649248

الإتاحة: https://doi.org/10.1093/brain/awv392Test
http://hdl.handle.net/2434/523694Test

المؤلفون: C. Dallabona, D. Diodato, S. H. Kevelam, T. B. Haack, L. Wong, G. S. Salomons, E. Baruffini, L. Melchionda, C. Mariotti, T. M. Strom, T. Meitinger, H. Prokisch, K. Chapman, A. Colley, H. Rocha, K. Ounap, R. Schiffmann, E. Salsano, M. Savoiardo, E. M. Hamilton, T. E. . M. Abbink, N. I. Wolf, I. Ferrero, C. Lamperti, M. Zeviani, A. Vanderver, M. S. Van Der Knaap, D. Ghezzi

المساهمون: C. Dallabona, D. Diodato, S.H. Kevelam, T.B. Haack, L. Wong, G.S. Salomon, E. Baruffini, L. Melchionda, C. Mariotti, T.M. Strom, T. Meitinger, H. Prokisch, K. Chapman, A. Colley, H. Rocha, K. Ounap, R. Schiffmann, E. Salsano, M. Savoiardo, E.M. Hamilton, T.E.M. Abbink, N.I. Wolf, I. Ferrero, C. Lamperti, M. Zeviani, A. Vanderver, D. Ghezzi, M.S. Van Der Knaap

مصطلحات موضوعية: adolescent, adult, alanine-tRNA ligase, ataxia, atrophy, cognition disorder, exon, female, human, leukoencephalopathie, magnetic resonance imaging, male, muscle spasticity, mutation, phenotype, primary ovarian insufficiency, young adult, neurology (clinical), arts and humanities (miscellaneous), Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24808023; info:eu-repo/semantics/altIdentifier/wos/WOS:000342819500008; volume:82; issue:23; firstpage:2063; lastpage:2071; numberofpages:9; journal:NEUROLOGY; http://hdl.handle.net/2434/523768Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84903955232

الإتاحة: https://doi.org/10.1212/WNL.0000000000000497Test
http://hdl.handle.net/2434/523768Test

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

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

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, myoblast, genetic, genetics (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

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/2434/523774Test; 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/2434/523774Test

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

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

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, biophysic

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26968897; info:eu-repo/semantics/altIdentifier/wos/WOS:000378179300033; EBEC : European Bioenergetics Conference; volume:1857; issue:8; firstpage:1326; lastpage:1335; numberofpages:10; journal:BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS; http://hdl.handle.net/2434/523716Test; 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/2434/523716Test

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: D. Ghezzi, C. Canavese, G. Kovacevic, D. Zamurovic, C. Barzaghi, C. Giorgi, G. Zorzi, M. Zeviani, P. Pinton, B. Garavaglia, N. Nardocci

المساهمون: D. Ghezzi, C. Canavese, G. Kovacevic, D. Zamurovic, C. Barzaghi, C. Giorgi, G. Zorzi, M. Zeviani, P. Pinton, B. Garavaglia, N. Nardocci

مصطلحات موضوعية: dyskinesia, Mitochondrial dysfunction, paroxysmal nonkinesigenic, adolescent, adult, age of onset, calcium signaling, cells, cultured, child, chorea, chromosomes, human, pair 2, family, female, fibroblast, male, middle aged, mitochondria, mitochondrial disease, movement disorder, muscle protein, oxygen consumption, pedigree, retrospective studie, young adult, pediatrics, perinatology and child health, neurology (clinical)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25453601; info:eu-repo/semantics/altIdentifier/wos/WOS:000348259700009; volume:19; issue:1; firstpage:64; lastpage:68; numberofpages:5; journal:EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY; http://hdl.handle.net/2434/523739Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84919479506

الإتاحة: https://doi.org/10.1016/j.ejpn.2014.10.003Test
http://hdl.handle.net/2434/523739Test

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