يعرض 1 - 10 نتائج من 22 نتيجة بحث عن '"D. Ghezzi"', وقت الاستعلام: 0.90s تنقيح النتائج
  1. 1
    دورية أكاديمية
    LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

    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

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  2. 2
    دورية أكاديمية
    COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

    المؤلفون: A. M. Lyons, A. Ardissone, A. Reyes, A. J. Robinson, I. Moroni, E. Fernandez Vizarra, M. Zeviani, D. Ghezzi

    المساهمون: A.M. Lyon, A. Ardissone, A. Reye, A.J. Robinson, I. Moroni, D. Ghezzi, E. Fernandez Vizarra, M. Zeviani

    مصطلحات موضوعية: COX assembly, molecular genetic, neurology, mitochondrial disease, mitochondrial respiratory chaixn, amino acid sequence, cytochrome-C oxidase deficiency, DNA mutational analysi, female, human, leukoencephalopathie, mitochondria, mitochondrial protein, sequence alignment, young adult, mutation, genetic, genetics (clinical), Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27683825; info:eu-repo/semantics/altIdentifier/wos/WOS:000391457200009; volume:53; issue:12; firstpage:846; lastpage:849; numberofpages:4; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/2434/523712Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85028270331

    الإتاحة: https://doi.org/10.1136/jmedgenet-2016-104194Test
    http://hdl.handle.net/2434/523712Test

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  3. 3
    دورية أكاديمية
    Loss of apoptosis-inducing factor critically affects MIA40 function

    المؤلفون: K. Meyer, S. Buettner, M. Zeviani, D. Bano, P. Nicotera, D. Ghezzi

    المساهمون: K. Meyer, S. Buettner, D. Ghezzi, M. Zeviani, D. Bano, P. Nicotera

    مصطلحات موضوعية: animal, apoptosi, apoptosis inducing factor, human, mice, mitochondria, mitochondrial membrane transport protein, oxidative phosphorylation, immunology, cellular and molecular neuroscience, cell biology, cancer research, Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26158520; info:eu-repo/semantics/altIdentifier/wos/WOS:000358788800014; volume:6; numberofpages:5; journal:CELL DEATH & DISEASE; http://hdl.handle.net/2434/523735Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84948457141

    الإتاحة: https://doi.org/10.1038/cddis.2015.170Test
    http://hdl.handle.net/2434/523735Test

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  4. 4
    دورية أكاديمية
    The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells

    المؤلفون: E. Perli, C. Giordano, A. Pisano, A. Montanari, A. F. Campese, A. Reyes, A. Nasca, H. A. Tuppen, M. Orlandi, P. Di Micco, E. Poser, R. W. Taylor, G. Colotti, S. Francisci, V. Morea, L. Frontali, M. Zeviani, G. D'Amati, D. Ghezzi

    المساهمون: E. Perli, C. Giordano, A. Pisano, A. Montanari, A.F. Campese, A. Reye, D. Ghezzi, A. Nasca, H.A. Tuppen, M. Orlandi, P. Di Micco, E. Poser, R.W. Taylor, G. Colotti, S. Francisci, V. Morea, L. Frontali, M. Zeviani, G. D'Amati

    مصطلحات موضوعية: aminoacyl-tRNA synthetase, mitochondrial disease, mitochondrial tRNA mutation, molecular therapy, amino acyl-tRNA synthetase, cell survival, energy metabolism, human, mitochondria, mutation, peptide, phenotype, protein binding, protein structure, tertiary, protein transport, RNA, transfer, leu, molecular medicine, Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24413190; info:eu-repo/semantics/altIdentifier/wos/WOS:000331389500003; volume:6; issue:2; firstpage:169; lastpage:182; numberofpages:14; journal:EMBO MOLECULAR MEDICINE; http://hdl.handle.net/2434/523770Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84893777996

    الإتاحة: https://doi.org/10.1002/emmm.201303198Test
    http://hdl.handle.net/2434/523770Test

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  5. 5
    دورية أكاديمية
    Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

    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

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  6. 6
    دورية أكاديمية
    VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

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

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

    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/2434/523772Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84904406653

    الإتاحة: https://doi.org/10.1002/humu.22590Test
    http://hdl.handle.net/2434/523772Test

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  7. 7
    دورية أكاديمية
    Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

    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

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  8. 8
    دورية أكاديمية
    New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

    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

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  9. 9
    دورية أكاديمية
    ADCK3 mutations with epilepsy, stroke-like episodes and ataxia : a POLG mimic?

    المؤلفون: O. Hikmat, C. Tzoulis, P. M. Knappskog, S. Johansson, H. Boman, P. Sztromwasser, E. Lien, E. Brodtkorb, L. A. Bindoff, D. Ghezzi

    المساهمون: O. Hikmat, C. Tzouli, P.M. Knappskog, S. Johansson, H. Boman, P. Sztromwasser, E. Lien, E. Brodtkorb, D. Ghezzi, L.A. Bindoff

    مصطلحات موضوعية: ADCK3, ataxia, CABC1, coenzyme Q10, epilepsia partialis continua, mitochondria, POLG, stroke-like episode, neurology, neurology (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27106809; info:eu-repo/semantics/altIdentifier/wos/WOS:000378431100015; volume:23; issue:7; firstpage:1188; lastpage:1194; numberofpages:7; journal:EUROPEAN JOURNAL OF NEUROLOGY; http://hdl.handle.net/2434/523705Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84973327174

    الإتاحة: https://doi.org/10.1111/ene.13003Test
    http://hdl.handle.net/2434/523705Test

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  10. 10
    دورية أكاديمية
    A family with paroxysmal nonkinesigenic dyskinesias (PNKD) : Evidence of mitochondrial dysfunction

    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

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