يعرض 1 - 10 نتائج من 15 نتيجة بحث عن '"D. Ghezzi"', وقت الاستعلام: 0.76s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

    المؤلفون: R. K. J. Olsen, E. KoåˆaåTMã­kovã¡, T. A. Giancaspero, S. Mosegaard, V. Boczonadi, L. Matakoviä‡, A. Veauville Merllié, C. Terrile, T. Schwarzmayr, T. B. Haack, M. Auranen, P. Leone, M. Galluccio, A. Imbard, P. Gutierrez Rios, J. Palmfeldt, E. Graf, C. Vianey Saban, M. Oppenheim, M. Schiff, S. Pichard, O. Rigal, A. Pyle, P. F. Chinnery, V. Konstantopoulou, D. Mã¶slinger, R. G. Feichtinger, B. Talim, H. Topaloglu, T. Coskun, S. Gucer, A. Botta, E. Pegoraro, A. Malena, L. Vergani, D. Mazzã, M. Zollino, D. Ghezzi, C. Acquaviva, T. Tyni, A. Boneh, T. Meitinger, T. M. Strom, N. Gregersen, J. A. Mayr, R. Horvath, M. Barile, H. Prokisch

    المساهمون: R.K.J. Olsen, E. KoåˆaåTMã­kovã¡, T.A. Giancaspero, S. Mosegaard, V. Boczonadi, L. Matakoviä‡, A. Veauville Merllié, C. Terrile, T. Schwarzmayr, T.B. Haack, M. Auranen, P. Leone, M. Galluccio, A. Imbard, P. Gutierrez Rio, J. Palmfeldt, E. Graf, C. Vianey Saban, M. Oppenheim, M. Schiff, S. Pichard, O. Rigal, A. Pyle, P.F. Chinnery, V. Konstantopoulou, D. Mã¶slinger, R.G. Feichtinger, B. Talim, H. Topaloglu, T. Coskun, S. Gucer, A. Botta, E. Pegoraro, A. Malena, L. Vergani, D. Mazzã, M. Zollino, D. Ghezzi, C. Acquaviva, T. Tyni, A. Boneh, T. Meitinger, T.M. Strom, N. Gregersen, J.A. Mayr, R. Horvath, M. Barile, H. Prokisch

    مصطلحات موضوعية: adult, blotting, western, case-control studie, cells, cultured, electron transport, female, fibroblast, flavin-adenine dinucleotide, frameshift mutation, gene expression profiling, human, infant, newborn, liver, male, mitochondrial disease, multiple acyl coenzyme a dehydrogenase deficiency, muscle, skeletal, mutagenesis, site-directed, nucleotidyltransferase, protein binding, rna, messenger, real-time polymerase chain reaction, reverse transcriptase polymerase chain reaction, riboflavin

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27259049; info:eu-repo/semantics/altIdentifier/wos/WOS:000377286000008; volume:98; issue:6; firstpage:1130; lastpage:1145; numberofpages:16; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/523684Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84971568098

    الإتاحة: https://doi.org/10.1016/j.ajhg.2016.04.006Test
    http://hdl.handle.net/2434/523684Test

    View record in BASE

    أضف إلى المفضلة
  2. 2
    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

    View record in BASE

    أضف إلى المفضلة
  3. 3
    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

    View record in BASE

    أضف إلى المفضلة
  4. 4
    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

    View record in BASE

    أضف إلى المفضلة
  5. 5
    دورية أكاديمية
    Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

    المؤلفون: L. Melchionda, M. Fang, H. Wang, V. Fugnanesi, M. Morbin, X. Liu, W. Li, I. Ceccherini, L. Farina, M. Savoiardo, P. D'Adamo, J. Zhang, A. Costa, S. Ravaglia, M. Zeviani, D. Ghezzi

    المساهمون: L. Melchionda, M. Fang, H. Wang, V. Fugnanesi, M. Morbin, X. Liu, W. Li, I. Ceccherini, L. Farina, M. Savoiardo, P. D'Adamo, J. Zhang, A. Costa, S. Ravaglia, D. Ghezzi, M. Zeviani

    مصطلحات موضوعية: age of onset, aged, alexander disease, brain stem, cells, cultured, exome, female, fibroblast, glial fibrillary acidic protein, high-throughput nucleotide sequencing, histone deacetylase, human, magnetic resonance imaging, male, middle aged, phenotype, mutation, medicine (all), genetics (clinical), pharmacology (medical), Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare, Settore MED/26 - Neurologia

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23634874; info:eu-repo/semantics/altIdentifier/wos/WOS:000318988400001; volume:8; issue:1; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/2434/523784Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84876804115

    الإتاحة: https://doi.org/10.1186/1750-1172-8-66Test
    http://hdl.handle.net/2434/523784Test

    View record in BASE

    أضف إلى المفضلة
  6. 6
    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

    View record in BASE

    أضف إلى المفضلة
  7. 7
    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

    View record in BASE

    أضف إلى المفضلة
  8. 8
    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

    View record in BASE

    أضف إلى المفضلة
  9. 9
    دورية أكاديمية
    Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

    المؤلفون: X. Gai, M. A. Johnson, C. A. Biagosch, H. E. Shamseldin, T. B. Haack, A. Reyes, M. Tsukikawa, C. A. Sheldon, S. Srinivasan, M. Gorza, L. S. Kremer, T. Wieland, T. M. Strom, E. Polyak, E. Place, M. Consugar, J. Ostrovsky, S. Vidoni, A. J. Robinson, L. Wong, N. Sondheimer, M. A. Salih, E. Al Jishi, C. P. Raab, C. Bean, F. Furlan, R. Parini, C. Lamperti, J. A. Mayr, V. Konstantopoulou, M. Huemer, E. A. Pierce, T. Meitinger, P. Freisinger, W. Sperl, H. Prokisch, F. S. Alkuraya, M. J. Falk, M. Zeviani, D. Ghezzi

    المساهمون: X. Gai, D. Ghezzi, M.A. Johnson, C.A. Biagosch, H.E. Shamseldin, T.B. Haack, A. Reye, M. Tsukikawa, C.A. Sheldon, S. Srinivasan, M. Gorza, L.S. Kremer, T. Wieland, T.M. Strom, E. Polyak, E. Place, M. Consugar, J. Ostrovsky, S. Vidoni, A.J. Robinson, L. Wong, N. Sondheimer, M.A. Salih, E. Al-Jishi, C.P. Raab, C. Bean, F. Furlan, R. Parini, C. Lamperti, J.A. Mayr, V. Konstantopoulou, M. Huemer, E.A. Pierce, T. Meitinger, P. Freisinger, W. Sperl, H. Prokisch, F.S. Alkuraya, M.J. Falk, M. Zeviani

    مصطلحات موضوعية: age of onset, child, preschool, chromosomes, human, pair 6, dna, complementary, f-box protein, female, fibroblast, genes, recessive, hek293 cell, infant, newborn, male, mitochondria, mitochondrial encephalomyopathie, mitochondrial protein, muscle, skeletal, mutant protein, mutation, oxidative phosphorylation, pedigree, protein transport, subcellular fraction, syndrome, ubiquitin-protein ligase

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23993194; info:eu-repo/semantics/altIdentifier/wos/WOS:000330268900007; volume:93; issue:3; firstpage:482; lastpage:495; numberofpages:14; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/523782Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84883780647

    الإتاحة: https://doi.org/10.1016/j.ajhg.2013.07.016Test
    http://hdl.handle.net/2434/523782Test

    View record in BASE

    أضف إلى المفضلة
  10. 10
    دورية أكاديمية
    Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

    المؤلفون: D. Ghezzi, I. Sevrioukova, F. Invernizzi, C. Lamperti, M. Mora, F. Novara, O. Zuffardi, G. Uziel, M. Zeviani, D'ADAMO, ADAMO PIO

    المساهمون: D., Ghezzi, I., Sevrioukova, F., Invernizzi, C., Lamperti, M., Mora, D'Adamo, ADAMO PIO, F., Novara, O., Zuffardi, G., Uziel, M., Zeviani

    مصطلحات موضوعية: Apoptosi, Apoptosis Inducing Factor, Apoptosis Inducing Factor: genetic, Apoptosis Inducing Factor: metabolism, Caspase 3, Caspase 3: metabolism, Computer Simulation, DNA, DNA Primer, DNA Primers: chemistry, Dietary Supplement, Electron Transport, Electron Transport: physiology, Female, Fibroblast, Fibroblasts: cytology, Fibroblasts: drug effect, Fibroblasts: metabolism, Flavin-Adenine Dinucleotide, Flavin-Adenine Dinucleotide: metabolism, Gene, Human, In Situ Nick-End Labeling, Infant, Magnetic Resonance Imaging, Male, Mitochondrial, Mitochondrial Encephalomyopathie, Mitochondrial Encephalomyopathies: genetic, Mitochondrial Encephalomyopathies: metabolism

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20362274; info:eu-repo/semantics/altIdentifier/wos/WOS:000276716800016; volume:86; firstpage:639; lastpage:649; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11368/2489177Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77950326171; http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2850437Test\&tool=pmcentrez\&rendertype=abstract

    الإتاحة: https://doi.org/10.1016/j.ajhg.2010.03.002Test
    http://hdl.handle.net/11368/2489177Test
    http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2850437Test\&tool=pmcentrez\&rendertype=abstract

    View record in BASE

    أضف إلى المفضلة
أدوات البحث: أحصل على تغذية RSS — أرسل هذا البحث بالبريد الإلكتروني — حفظ البحث