يعرض 1 - 10 نتائج من 11 نتيجة بحث عن '"D. Ghezzi"', وقت الاستعلام: 0.68s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease

    المؤلفون: F. Bruni, I. Di Meo, E. Bellacchio, B. D. Webb, R. Mcfarland, Z. M. A. Chrzanowska-Lightowlers, L. He, E. Skorupa, I. Moroni, A. Ardissone, A. Walczak, H. Tyynismaa, P. Isohanni, H. Mandel, H. Prokisch, T. Haack, P. E. Bonnen, E. Bertini, E. Pronicka, D. Ghezzi, R. W. Taylor, D. Diodato

    المساهمون: F. Bruni, I. Di Meo, E. Bellacchio, B.D. Webb, R. Mcfarland, Z.M.A. Chrzanowska-Lightowler, L. He, E. Skorupa, I. Moroni, A. Ardissone, A. Walczak, H. Tyynismaa, P. Isohanni, H. Mandel, H. Prokisch, T. Haack, P.E. Bonnen, E. Bertini, E. Pronicka, D. Ghezzi, R.W. Taylor, D. Diodato

    مصطلحات موضوعية: Cardioencephalomyopathy, Mitochondrial disorder, OXPHOS, VARS2, Genetic, Genetics (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29314548; info:eu-repo/semantics/altIdentifier/wos/WOS:000426727800009; volume:39; issue:4; firstpage:563; lastpage:578; numberofpages:16; journal:HUMAN MUTATION; http://hdl.handle.net/2434/552120Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85041668846

    الإتاحة: https://doi.org/10.1002/humu.23398Test
    http://hdl.handle.net/2434/552120Test

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  2. 2
    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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  3. 3
    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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  4. 4
    دورية أكاديمية
    Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

    المؤلفون: A. Nasca, C. Scotton, I. Zaharieva, M. Neri, R. Selvatici, O. T. Magnusson, A. Gal, D. Weaver, R. Rossi, A. Armaroli, M. Pane, R. Phadke, A. Sarkozy, F. Muntoni, I. Hughes, A. Cecconi, G. Hajnóczky, A. Donati, E. Mercuri, M. Zeviani, A. Ferlini, D. Ghezzi

    المساهمون: A. Nasca, C. Scotton, I. Zaharieva, M. Neri, R. Selvatici, O.T. Magnusson, A. Gal, D. Weaver, R. Rossi, A. Armaroli, M. Pane, R. Phadke, A. Sarkozy, F. Muntoni, I. Hughe, A. Cecconi, G. Hajnóczky, A. Donati, E. Mercuri, M. Zeviani, A. Ferlini, D. Ghezzi

    مصطلحات موضوعية: ataxia, mitochondrial dynamic, MSTO1, myopathy, skeletal abnormalitie, Genetic, Genetics (clinical), Settore MED/03 - Genetica Medica

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28544275; info:eu-repo/semantics/altIdentifier/wos/WOS:000405323500010; volume:38; issue:8; firstpage:970; lastpage:977; numberofpages:8; journal:HUMAN MUTATION; http://hdl.handle.net/2434/523678Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85020220625

    الإتاحة: https://doi.org/10.1002/humu.23262Test
    http://hdl.handle.net/2434/523678Test

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  5. 5
    دورية أكاديمية
    Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy

    المؤلفون: F. Raviglione, G. Conte, C. Parazzini, A. Righini, R. Vergaro, A. Legati, L. Spaccini, S. Gasperini, B. Garavaglia, M. Mastrangelo, D. Ghezzi

    المساهمون: F. Raviglione, G. Conte, D. Ghezzi, C. Parazzini, A. Righini, R. Vergaro, A. Legati, L. Spaccini, S. Gasperini, B. Garavaglia, M. Mastrangelo

    مصطلحات موضوعية: encephalopathy, epilepsy, FARS2, mitochondrial disease, genetic, genetics (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27549011; info:eu-repo/semantics/altIdentifier/wos/WOS:000388195300031; volume:170; issue:11; firstpage:3004; lastpage:3007; numberofpages:4; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/2434/523723Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84991489226

    الإتاحة: https://doi.org/10.1002/ajmg.a.37836Test
    http://hdl.handle.net/2434/523723Test

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  6. 6
    دورية أكاديمية
    MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

    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

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  7. 7
    دورية أكاديمية
    A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity

    المؤلفون: F. Invernizzi, M. Tigano, C. Dallabona, C. Donnini, I. Ferrero, M. Cremonte, C. Lamperti, M. Zeviani, D. Ghezzi

    المساهمون: F. Invernizzi, M. Tigano, C. Dallabona, C. Donnini, I. Ferrero, M. Cremonte, D. Ghezzi, C. Lamperti, M. Zeviani

    مصطلحات موضوعية: complex iii deficiency, encephalopathy, lactic acidosi, lyrm7, mzm1, yeast model, acidosis, lactic, amino acid sequence, brain, DNA mutational analysi, electron transport complex III, enzyme activation, female, human, infant, magnetic resonance imaging, mitochondrial encephalomyopathie, mitochondrial protein, molecular chaperone, molecular sequence data, pedigree, saccharomyces cerevisiae, sequence alignment, homozygote, mutation, genetic, genetics (clinical), Settore MED/03 - Genetica Medica

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24014394; info:eu-repo/semantics/altIdentifier/wos/WOS:000326864200006; volume:34; issue:12; firstpage:1619; lastpage:1622; numberofpages:4; journal:HUMAN MUTATION; http://hdl.handle.net/2434/523780Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84887613215

    الإتاحة: https://doi.org/10.1002/humu.22441Test
    http://hdl.handle.net/2434/523780Test

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  8. 8
    دورية أكاديمية
    New missense variants of NDUFA11 associated with late-onset myopathy

    المؤلفون: Peverelli L., Legati A., Lamantea E., Nasca A., Lerario A., Galimberti V., Ghezzi D., Lamperti C.

    المساهمون: L. Peverelli, A. Legati, E. Lamantea, A. Nasca, A. Lerario, V. Galimberti, D. Ghezzi, C. Lamperti

    مصطلحات موضوعية: complex I deficiency, late-onset myopathy, NDUFA11, next-generation sequencing, respiratory chain, Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31074871; info:eu-repo/semantics/altIdentifier/wos/WOS:000475398200002; journal:MUSCLE & NERVE; http://hdl.handle.net/2434/652228Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85066819415

    الإتاحة: https://doi.org/10.1002/mus.26511Test
    http://hdl.handle.net/2434/652228Test

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  9. 9
    دورية أكاديمية
    Response to: “Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number”

    المؤلفون: Costanza Lamperti, Silvia Marchet, Andrea Legati, Daniele Ghezzi

    المساهمون: C. Lamperti, S. Marchet, A. Legati, D. Ghezzi

    مصطلحات موضوعية: Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33113594; info:eu-repo/semantics/altIdentifier/wos/WOS:000585860600017; volume:41; issue:11; firstpage:2014; lastpage:2015; numberofpages:2; journal:HUMAN MUTATION; http://hdl.handle.net/2434/781128Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85094155720

    الإتاحة: https://doi.org/10.1002/humu.24122Test
    http://hdl.handle.net/2434/781128Test

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  10. 10
    دورية أكاديمية
    Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions

    المؤلفون: Marchet S., Legati A., Nasca A., Di Meo I., Spagnolo M., Zanetti N., Lamantea E., Catania A., Lamperti C., Ghezzi D.

    المساهمون: S. Marchet, A. Legati, A. Nasca, I. Di Meo, M. Spagnolo, N. Zanetti, E. Lamantea, A. Catania, C. Lamperti, D. Ghezzi

    مصطلحات موضوعية: C1QBP, mitochondrial DNA, primary mitochondrial myopathy, progressive external ophthalmoplegia, Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32652806; info:eu-repo/semantics/altIdentifier/wos/WOS:000550806100001; volume:41; issue:10; firstpage:1745; lastpage:1750; numberofpages:6; journal:HUMAN MUTATION; http://hdl.handle.net/2434/781142Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088293009

    الإتاحة: https://doi.org/10.1002/humu.24081Test
    http://hdl.handle.net/2434/781142Test

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