يعرض 1 - 7 نتائج من 7 نتيجة بحث عن '"D. Ghezzi"', وقت الاستعلام: 0.87s تنقيح النتائج
  1. 1
    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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  2. 2
    دورية أكاديمية
    Mitochondrial dysfunction in Parkinson disease: Evidence in mutant PARK2 fibroblasts

    المؤلفون: M. C. Zanellati, V. Monti, C. Barzaghi, C. Reale, N. Nardocci, A. Albanese, E. M. Valente, B. Garavaglia, D. Ghezzi

    المساهمون: M.C. Zanellati, V. Monti, C. Barzaghi, C. Reale, N. Nardocci, A. Albanese, E.M. Valente, D. Ghezzi, B. Garavaglia

    مصطلحات موضوعية: mitochondrial dynamic, mitochondrial membrane potential, oxygen consumption, park2, parkin, genetic, molecular medicine, genetics (clinical), Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25815004; info:eu-repo/semantics/altIdentifier/wos/WOS:000352766800001; volume:6; issue:MAR; numberofpages:9; journal:FRONTIERS IN GENETICS; http://hdl.handle.net/2434/523733Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84927135557

    الإتاحة: https://doi.org/10.3389/fgene.2015.00078Test
    http://hdl.handle.net/2434/523733Test

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  3. 3
    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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  4. 4
    دورية أكاديمية
    A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions

    المؤلفون: L. Melchionda, N. S. Damseh, B. Y. Abu Libdeh, A. Nasca, O. Elpeleg, A. Zanolini, D. Ghezzi

    المساهمون: L. Melchionda, N.S. Damseh, B.Y. Abu Libdeh, A. Nasca, O. Elpeleg, A. Zanolini, D. Ghezzi

    مصطلحات موضوعية: bilateral basal ganglia lesion, complex iii deficiency, encephalomyopathy, mitochondrial disease, novel mutation, Ttc19, genetic, molecular medicine, genetics (clinical), Settore MED/03 - Genetica Medica

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25452764; info:eu-repo/semantics/altIdentifier/wos/WOS:000347941100001; volume:5; issue:NOV; numberofpages:5; journal:FRONTIERS IN GENETICS; http://hdl.handle.net/2434/523758Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84917742690

    الإتاحة: https://doi.org/10.3389/fgene.2014.00397Test
    http://hdl.handle.net/2434/523758Test

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  5. 5
    دورية أكاديمية
    Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

    المؤلفون: F. Invernizzi, A. Ardissone, E. Lamantea, B. Garavaglia, M. Zeviani, L. Farina, I. Moroni, D. Ghezzi

    المساهمون: F. Invernizzi, A. Ardissone, E. Lamantea, B. Garavaglia, M. Zeviani, L. Farina, D. Ghezzi, I. Moroni

    مصطلحات موضوعية: Brain MRI, leukoencephalopathy, mitochondrial disorder, MMDS1, multiple mitochondrial dysfunction syndrome, NFU1, genetic, molecular medicine, genetics (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25477904; info:eu-repo/semantics/altIdentifier/wos/WOS:000347942700001; volume:5; issue:NOV; journal:FRONTIERS IN GENETICS; http://hdl.handle.net/2434/523776Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84917736963

    الإتاحة: https://doi.org/10.3389/fgene.2014.00412Test
    http://hdl.handle.net/2434/523776Test

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  6. 6
    دورية أكاديمية
    The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes

    المؤلفون: A. Indrieri, I. Conte, G. Chesi, A. Romano, J. Quartararo, R. Tatã ̈, M. Zeviani, P. Goffrini, I. Ferrero, P. Bovolenta, B. Franco, D. Ghezzi

    المساهمون: A. Indrieri, I. Conte, G. Chesi, A. Romano, J. Quartararo, R. Tatã ̈, D. Ghezzi, M. Zeviani, P. Goffrini, I. Ferrero, P. Bovolenta, B. Franco

    مصطلحات موضوعية: molecular medicine, Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

    العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000337546600012; volume:6; issue:6; firstpage:849; lastpage:849; numberofpages:1; journal:EMBO MOLECULAR MEDICINE; http://hdl.handle.net/2434/523764Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84901760589

    الإتاحة: https://doi.org/10.15252/emmm.201470060Test
    http://hdl.handle.net/2434/523764Test

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  7. 7
    دورية أكاديمية
    Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions

    المؤلفون: Reyes, Aurelio, Melchionda, Laura, Burlina, Alberto, Robinson, Alan J, Ghezzi, Daniele, Zeviani, Massimo

    المساهمون: A. Reye, L. Melchionda, A. Burlina, A.J. Robinson, D. Ghezzi, M. Zeviani

    مصطلحات موضوعية: bioenergetic dysfunction, mitochondrial import, OxPho, TIMM50, Molecular Medicine, Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30190335; info:eu-repo/semantics/altIdentifier/wos/WOS:000447125900002; volume:10; issue:10; firstpage:1; lastpage:15; numberofpages:15; journal:EMBO MOLECULAR MEDICINE; http://hdl.handle.net/2434/605513Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85052917522

    الإتاحة: https://doi.org/10.15252/emmm.201708698Test
    http://hdl.handle.net/2434/605513Test

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