يعرض 51 - 60 نتائج من 186 نتيجة بحث عن '"D. Ghezzi"', وقت الاستعلام: 0.77s تنقيح النتائج
  1. 51
    مؤتمر
    Yeast as a model system to shed light on the role of the human disease protein Mpv17

    المؤلفون: DALLABONA, Cristina, DONNINI, Claudia, R. M. Marsano, P. Arzuffi, D. Ghezzi, P. Mancini, M. Zeviani, I. Ferrero

    المساهمون: Dallabona, Cristina, R. M., Marsano, P., Arzuffi, D., Ghezzi, P., Mancini, M., Zeviani, I., Ferrero, Donnini, Claudia

    العلاقة: ispartofbook:JointMeeting AGI – SIBV – SIGA; numberofpages:1; http://hdl.handle.net/11381/2637874Test

    الإتاحة: http://hdl.handle.net/11381/2637874Test

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  2. 52
    مؤتمر
    SYM1, the yeast ortholog of the MPV17 human disease gene, is required for TCA function, mtDNA stability and mitochondrial morphology in stress conditions

    المؤلفون: DALLABONA, Cristina, MARSANO, Rene' Massimiliano, FERRERO FORTUNATI, Iliana, DONNINI, Claudia, P. Mancini, D. Ghezzi, M. Zeviani

    المساهمون: Dallabona, Cristina, Marsano, Rene' Massimiliano, P., Mancini, D., Ghezzi, M., Zeviani, FERRERO FORTUNATI, Iliana, Donnini, Claudia

    العلاقة: ispartofbook:XXI Convegno FISV - Atti; XXI Convegno FISV; http://hdl.handle.net/11381/2303470Test

    الإتاحة: http://hdl.handle.net/11381/2303470Test

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  3. 53
    دورية أكاديمية
    Novel (ovario) leukodystrophy related to AARS2 mutations

    المؤلفون: DALLABONA, Cristina, BARUFFINI, Enrico, FERRERO FORTUNATI, Iliana, D. Diodato, S. H. Kevelam, T. B. Haack, L. J. Wong, G. S. Salomons, L. Melchionda, C. Mariotti, T. M. Strom, T. Meitinger, H. Prokisch, K. Chapman, A. Colley, H. Rocha, K. unap, R. Schiffmann, E. Salsano, M. Savoiardo, E. M. Hamilton, T. E. M. Abbink, N. I. Wolf, C. Lamperti, M. Zeviani, A. Vanderver, D. Ghezzi, M. S. van der Knaap

    المساهمون: Dallabona, Cristina, D., Diodato, S. H., Kevelam, T. B., Haack, L. J., Wong, G. S., Salomon, Baruffini, Enrico, L., Melchionda, C., Mariotti, T. M., Strom, T., Meitinger, H., Prokisch, K., Chapman, A., Colley, H., Rocha, K., unap, R., Schiffmann, E., Salsano, M., Savoiardo, E. M., Hamilton, T. E. M., Abbink, N. I., Wolf, FERRERO FORTUNATI, Iliana, C., Lamperti, M., Zeviani, A., Vanderver, D., Ghezzi, M. S., van der Knaap

    العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000342819500008; volume:82; firstpage:2063; lastpage:2071; numberofpages:9; journal:NEUROLOGY; http://hdl.handle.net/11381/2761374Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84903955232

    الإتاحة: https://doi.org/10.1212/WNL.0000000000000497Test
    http://hdl.handle.net/11381/2761374Test

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  4. 54
    دورية أكاديمية
    Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

    المؤلفون: R. Kopajtich, T. J. Nicholls, J. Rorbach, M. D. Metodiev, P. Freisinger, H. Mandel, A. Vanlander, R. Carrozzo, R. W. Taylor, K. Marquard, K. Murayama, T. Wieland, T. Schwarzmayr, J. A. Mayr, S. F. Pearce, C. A. Powell, A. Saada, A. Ohtake, F. Invernizzi, E. Lamantea, E. W. Sommerville, A. Pyle, P. F. Chinnery, E. Crushell, Y. Okazaki, M. Kohda, Y. Kishita, Y. Tokuzawa, Z. Assouline, M. Rio, F. Feillet, B. Mousson De Camaret, D. Chretien, A. Munnich, B. Menten, T. Sante, J. Smet, L. Rã©gal, A. Lorber, A. Khoury, M. Zeviani, T. M. Strom, T. Meitinger, E. S. Bertini, R. Van Coster, T. Klopstock, A. Rőtig, T. B. Haack, M. Minczuk, H. Prokisch, D. Ghezzi

    المساهمون: R. Kopajtich, T.J. Nicholl, J. Rorbach, M.D. Metodiev, P. Freisinger, H. Mandel, A. Vanlander, D. Ghezzi, R. Carrozzo, R.W. Taylor, K. Marquard, K. Murayama, T. Wieland, T. Schwarzmayr, J.A. Mayr, S.F. Pearce, C.A. Powell, A. Saada, A. Ohtake, F. Invernizzi, E. Lamantea, E.W. Sommerville, A. Pyle, P.F. Chinnery, E. Crushell, Y. Okazaki, M. Kohda, Y. Kishita, Y. Tokuzawa, Z. Assouline, M. Rio, F. Feillet, B. Mousson De Camaret, D. Chretien, A. Munnich, B. Menten, T. Sante, J. Smet, L. Rã©gal, A. Lorber, A. Khoury, M. Zeviani, T.M. Strom, T. Meitinger, E.S. Bertini, R. Van Coster, T. Klopstock, A. Rőtig, T.B. Haack, M. Minczuk, H. Prokisch

    مصطلحات موضوعية: acidosis, lactic, amino acid sequence, brain, brain disease, cardiomyopathy, hypertrophic, cell line, child, preschool, consanguinity, female, fibroblast, GTP-Binding protein, human, infant, newborn, male, molecular sequence data, mutation, pedigree, protein biosynthesi, RNA Interference, RNA, transfer, sequence alignment, protein processing, post-translational, genetic, genetics (clinical)

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25434004; info:eu-repo/semantics/altIdentifier/wos/WOS:000346623100007; volume:95; issue:6; firstpage:708; lastpage:720; numberofpages:13; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/523766Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84919678076

    الإتاحة: https://doi.org/10.1016/j.ajhg.2014.10.017Test
    http://hdl.handle.net/2434/523766Test

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  5. 55
    مؤتمر
    Spike detection algorithm improvement, spike waveform projections with PCA and hierarchical classification

    المؤلفون: BIFFI, EMILIA, PEDROCCHI, ALESSANDRA LAURA GIULIA, FERRIGNO, GIANCARLO, D. Ghezzi

    المساهمون: Biffi, Emilia, D., Ghezzi, Pedrocchi, ALESSANDRA LAURA GIULIA, Ferrigno, Giancarlo

    مصطلحات موضوعية: Spike detection, PCA, hierarchical classification, Multieloctrode Arrays

    العلاقة: ispartofseries:Proc. IET 4th International Conference on Medical Advances in Signal Processing (MEDSIP 2008); ispartofbook:Proc. IET 4th International Conference on Medical Advances in Signal Processing (MEDSIP 2008); IET 4th International Conference on Medical Advances in Signal Processing (MEDSIP 2008); firstpage:1; lastpage:4; http://hdl.handle.net/11311/548880Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-67549083113

    الإتاحة: http://hdl.handle.net/11311/548880Test

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  6. 56
    مؤتمر
    A system for automatic on-line time detection and classification of neural spikes based on a digital signal processor and a FPGA controller

    المؤلفون: BIFFI E, D. GHEZZI, ESPOSTI , FEDERICO, A. MENEGON, SIGNORINI MG, VALTORTA, FLAVIA, G. FERRIGNO

    المساهمون: Biffi, E, D., Ghezzi, Esposti, Federico, A., Menegon, Signorini, Mg, Valtorta, Flavia, G., Ferrigno

    العلاقة: ispartofbook:Neuroscience 2007 (SFN); 37th Annual Meeting of Society for Neuroscience; firstpage:1; lastpage:1; numberofpages:1; http://hdl.handle.net/20.500.11768/49890Test

    الإتاحة: https://doi.org/20.500.11768/49890Test
    https://hdl.handle.net/20.500.11768/49890Test

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  7. 57
    كتاب
    Active control of the ion-resonance instability in a trapped pure electron plasma

    المؤلفون: G. Bettega, F. Cavaliere, M. Cavenago, F. De Luca, D. Ghezzi, A. Illiberi, R. Pozzoli, M. Romé

    المساهمون: M. Drewsen, U. Uggerhoj, H. Knudsen, G. Bettega, F. Cavaliere, M. Cavenago, F. De Luca, D. Ghezzi, A. Illiberi, R. Pozzoli, M. Romé

    مصطلحات موضوعية: Plasma instability, plasma diagnostics, particle traps, Settore FIS/01 - Fisica Sperimentale, Settore FIS/03 - Fisica della Materia

    العلاقة: info:eu-repo/semantics/altIdentifier/isbn/978-0-7354-0360-4; info:eu-repo/semantics/altIdentifier/isbn/0-7354-0360-0; info:eu-repo/semantics/altIdentifier/wos/WOS:000243101600013; ispartofseries:AIP Conference Proceedings; 862; ispartofbook:Non-neutral plasma physics VI : workshop on non-neutral plasmas 2006, Aarhus, Denmark, 25-29 June 2006; Workshop on Non-Neutral Plasmas; volume:862; firstpage:98; lastpage:107; numberofpages:10; serie:AIP CONFERENCE PROCEEDINGS; alleditors:M. Drewsen, U. Uggerhoj, H. Knudsen; http://hdl.handle.net/2434/25602Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33846527123

    الإتاحة: https://doi.org/10.1063/1.2387913Test
    http://hdl.handle.net/2434/25602Test

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  8. 58
    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, I. Ferrero, M. Cremonte, D. Ghezzi, C. Lamperti, M. Zeviani, DALLABONA, Cristina, DONNINI, Claudia

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

    العلاقة: 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/11381/2637873Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84887613215

    الإتاحة: https://doi.org/10.1002/humu.22441Test
    http://hdl.handle.net/11381/2637873Test

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  9. 59
    دورية أكاديمية
    MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

    المؤلفون: BARUFFINI, Enrico, DALLABONA, Cristina, F. Invernizzi, J. W. Yarham, L. Melchionda, E. L. Blakely, E. Lamantea, DONNINI, Claudia, S. Santra, S. Vijayaraghavan, H. P. Roper, A. Burlina, R. Kopajtich, A. Walther, T. M. Strom, T. B. Haack, H. Prokisch, R. W. Taylor, FERRERO FORTUNATI, Iliana, M. Zeviani, D. Ghezzi

    المساهمون: Baruffini, Enrico, Dallabona, Cristina, F., Invernizzi, J. W., Yarham, L., Melchionda, E. L., Blakely, E., Lamantea, Donnini, Claudia, S., Santra, S., Vijayaraghavan, H. P., Roper, A., Burlina, R., Kopajtich, A., Walther, T. M., Strom, T. B., Haack, H., Prokisch, R. W., Taylor, FERRERO FORTUNATI, Iliana, M., Zeviani, D., Ghezzi

    العلاقة: 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/11381/2631657Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84885434357

    الإتاحة: https://doi.org/10.1002/humu.22393Test
    http://hdl.handle.net/11381/2631657Test

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  10. 60
    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, R. Tatè, D. Ghezzi, M. Zeviani, P. Bovolenta, B. Franco, QUARTARARO, Jade, GOFFRINI, Paola, FERRERO FORTUNATI, Iliana

    المساهمون: A., Indrieri, I., Conte, G., Chesi, A., Romano, Quartararo, Jade, R., Tatè, D., Ghezzi, M., Zeviani, Goffrini, Paola, FERRERO FORTUNATI, Iliana, P., Bovolenta, B., Franco

    مصطلحات موضوعية: apoptosis, eye development, holo-cytochrome c-type synthase, mitochondrial diseases, MLS syndrome

    العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000314661800013; volume:5; issue:2; firstpage:280; lastpage:293; numberofpages:14; journal:EMBO MOLECULAR MEDICINE; http://hdl.handle.net/11381/2560044Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84873294408; http://dx.doi.org/10.1002/emmm.201201739Test

    الإتاحة: https://doi.org/10.1002/emmm.201201739Test
    http://hdl.handle.net/11381/2560044Test

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