يعرض 11 - 20 نتائج من 186 نتيجة بحث عن '"D. Ghezzi"', وقت الاستعلام: 0.94s تنقيح النتائج
  1. 11
    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. 12
    دورية أكاديمية
    Disease-causing SDHAF1 mutations impair transfer of Fe-S clusters to SDHB

    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

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  3. 13
    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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  4. 14
    دورية أكاديمية
    A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy

    المؤلفون: L. Bee, A. Nasca, A. Zanolini, F. Cendron, P. D'Adamo, R. Costa, C. Lamperti, L. Celotti, M. Zeviani, D. Ghezzi

    المساهمون: L. Bee, A. Nasca, A. Zanolini, F. Cendron, P. D'Adamo, R. Costa, C. Lamperti, L. Celotti, D. Ghezzi, M. Zeviani

    مصطلحات موضوعية: DNA repair, encephalocardiomyopathy, NHEJ, XRCC4, adult, animal, brain disease, cardiomyopathie, DNA-binding protein, fibroblast, gene expression profiling, genetic association studie, homozygote, human, mice, knockout, mutant protein, codon, nonsense, molecular medicine, Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25872942; info:eu-repo/semantics/altIdentifier/wos/WOS:000357333300007; volume:7; issue:7; firstpage:918; lastpage:929; numberofpages:12; journal:EMBO MOLECULAR MEDICINE; http://hdl.handle.net/2434/523729Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84934440068

    الإتاحة: https://doi.org/10.15252/emmm.201404803Test
    http://hdl.handle.net/2434/523729Test

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  5. 15
    دورية أكاديمية
    RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

    المؤلفون: A. Reyes, L. Melchionda, A. Nasca, F. Carrara, E. Lamantea, ZANOLINI, ALICE, C. Lamperti, M. Fang, J. Zhang, D. Ronchi, BONATO, SARA, G. Fagiolari, M. Moggio, D. Ghezzi, M. Zeviani

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

    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, genetic, genetics (clinical), Settore MED/26 - Neurologia

    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/2434/425916Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84937516676; http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest

    الإتاحة: https://doi.org/10.1016/j.ajhg.2015.05.013Test
    http://hdl.handle.net/2434/425916Test
    http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest

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  6. 16
    دورية أكاديمية
    COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

    المؤلفون: G. Brea Calvo, T. B. Haack, D. Karall, A. Ohtake, F. Invernizzi, R. Carrozzo, L. Kremer, S. Dusi, C. Fauth, S. Scholl BÃ1⁄4rgi, E. Graf, U. Ahting, N. Resta, N. Laforgia, D. Verrigni, Y. Okazaki, M. Kohda, D. Martinelli, P. Freisinger, T. M. Strom, T. Meitinger, C. Lamperti, A. Lacson, P. Navas, J. A. Mayr, E. Bertini, K. Murayama, M. Zeviani, H. Prokisch, D. Ghezzi

    المساهمون: G. Brea Calvo, T.B. Haack, D. Karall, A. Ohtake, F. Invernizzi, R. Carrozzo, L. Kremer, S. Dusi, C. Fauth, S. Scholl BÃ1⁄4rgi, E. Graf, U. Ahting, N. Resta, N. Laforgia, D. Verrigni, Y. Okazaki, M. Kohda, D. Martinelli, P. Freisinger, T.M. Strom, T. Meitinger, C. Lamperti, A. Lacson, P. Nava, J.A. Mayr, E. Bertini, K. Murayama, M. Zeviani, H. Prokisch, D. Ghezzi

    مصطلحات موضوعية: amino acid sequence, ataxia, base sequence, exome, fatal outcome, female, gene component, human, male, mitochondrial disease, mitochondrial protein, molecular sequence data, muscle weakne, mutation, pedigree, saccharomyces cerevisiae, sequence analysis, DNA, ubiquinone, phenotype, genetic, genetics (clinical), Settore MED/03 - Genetica Medica

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25658047; info:eu-repo/semantics/altIdentifier/wos/WOS:000349276700013; volume:96; issue:2; firstpage:309; lastpage:317; numberofpages:9; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/523743Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84924942443

    الإتاحة: https://doi.org/10.1016/j.ajhg.2014.12.023Test
    http://hdl.handle.net/2434/523743Test

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  7. 17
    دورية أكاديمية
    A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

    المؤلفون: A. Ardissone, G. Piscosquito, A. Legati, T. Langella, E. Lamantea, B. Garavaglia, E. Salsano, L. Farina, I. Moroni, D. Pareyson, D. Ghezzi

    المساهمون: A. Ardissone, G. Piscosquito, A. Legati, T. Langella, E. Lamantea, B. Garavaglia, E. Salsano, L. Farina, I. Moroni, D. Pareyson, D. Ghezzi

    مصطلحات موضوعية: adult, age of onset, apoptosis inducing factor, disease progression, human, male, mitochondrial encephalomyopathie, neurology (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25934856; info:eu-repo/semantics/altIdentifier/wos/WOS:000355317000021; volume:84; issue:21; firstpage:2193; lastpage:2195; numberofpages:3; journal:NEUROLOGY; http://hdl.handle.net/2434/523752Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84929880899

    الإتاحة: https://doi.org/10.1212/WNL.0000000000001613Test
    http://hdl.handle.net/2434/523752Test

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  8. 18
    دورية أكاديمية
    Mitochondrial Complex III Deficiency Caused by TTC19 Defects : Report of a Novel Mutation and Review of Literature

    المؤلفون: A. Ardissone, T. Granata, A. Legati, D. Diodato, L. Melchionda, E. Lamantea, B. Garavaglia, D. Ghezzi, I. Moroni

    المساهمون: A. Ardissone, T. Granata, A. Legati, D. Diodato, L. Melchionda, E. Lamantea, B. Garavaglia, D. Ghezzi, I. Moroni

    مصطلحات موضوعية: Bilateral striatal necrosi, encephalopathy, Settore MED/03 - Genetica Medica

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25772319; info:eu-repo/semantics/altIdentifier/wos/WOS:000376987200015; volume:22; firstpage:115; lastpage:120; numberofpages:6; journal:JIMD REPORTS; http://hdl.handle.net/2434/523750Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84964675288

    الإتاحة: https://doi.org/10.1007/8904_2015_419Test
    http://hdl.handle.net/2434/523750Test

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  9. 19
    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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  10. 20
    دورية أكاديمية
    Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance

    المؤلفون: A. Ardissone, F. Invernizzi, A. Nasca, I. Moroni, L. Farina, D. Ghezzi

    المساهمون: A. Ardissone, F. Invernizzi, A. Nasca, I. Moroni, L. Farina, D. Ghezzi

    مصطلحات موضوعية: leukoencephalopathy, mitochondrial complex ii, mitochondrial disorder, sdhb, molecular biology, genetic, endocrinology, Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26925370; info:eu-repo/semantics/altIdentifier/wos/WOS:000217272600012; volume:5; firstpage:51; lastpage:54; numberofpages:4; journal:MOLECULAR GENETICS AND METABOLISM REPORTS; http://hdl.handle.net/2434/523731Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84945287081

    الإتاحة: https://doi.org/10.1016/j.ymgmr.2015.10.006Test
    http://hdl.handle.net/2434/523731Test

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