يعرض 1 - 10 نتائج من 25 نتيجة بحث عن '"T. Rizza"', وقت الاستعلام: 0.72s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Groundwater Quality Assessment Based on Water Quality Index in Northern Cyprus

    المؤلفون: Y. Kassem, H. Gökçekuş, T. Rizza

    المصدر: Engineering, Technology & Applied Science Research, Vol 12, Iss 2 (2022)

    مصطلحات موضوعية: Morphou, water quality, groundwater level changes, groundwater, physicochemical parameters, water quality index, Engineering (General). Civil engineering (General), TA1-2040, Technology (General), T1-995, Information technology, T58.5-58.64

    وصف الملف: electronic resource

    العلاقة: https://etasr.com/index.php/ETASR/article/view/4790Test; https://doaj.org/toc/2241-4487Test; https://doaj.org/toc/1792-8036Test

    الوصول الحر: https://doaj.org/article/7268cd1c8fa14754b0778de7f98c61c4Test

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  2. 2
    دورية أكاديمية
    Not only dominant, not only optic atrophy : expanding the clinical spectrum associated with OPA1 mutations

    المؤلفون: A. Nasca, T. Rizza, M. Doimo, A. Legati, A. Ciolfi, D. Diodato, C. Calderan, G. Carrara, E. Lamantea, C. Aiello, M. Di Nottia, M. Niceta, C. Lamperti, A. Ardissone, S. Bianchi Marzoli, G. Iarossi, E. Bertini, I. Moroni, M. Tartaglia, L. Salviati, R. Carrozzo, D. Ghezzi

    المساهمون: A. Nasca, T. Rizza, M. Doimo, A. Legati, A. Ciolfi, D. Diodato, C. Calderan, G. Carrara, E. Lamantea, C. Aiello, M. Di Nottia, M. Niceta, C. Lamperti, A. Ardissone, S. Bianchi Marzoli, G. Iarossi, E. Bertini, I. Moroni, M. Tartaglia, L. Salviati, R. Carrozzo, D. Ghezzi

    مصطلحات موضوعية: Encephalopathy, Mitochondrial disorder, OPA1, Optic atrophy, Recessive trait, Targeted resequencing, WES, Medicine (all), Genetics (clinical), Pharmacology (medical), Settore MED/03 - Genetica Medica

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28494813; info:eu-repo/semantics/altIdentifier/wos/WOS:000401180700002; volume:12; issue:1; firstpage:1; lastpage:10; numberofpages:10; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/2434/523688Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018923242

    الإتاحة: https://doi.org/10.1186/s13023-017-0641-1Test
    http://hdl.handle.net/2434/523688Test

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  3. 3
    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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  4. 4
    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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  5. 5
    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

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  6. 6
    دورية أكاديمية
    A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

    المؤلفون: D. Diodato, G. Tasca, D. Verrigni, A. D'Amico, T. Rizza, G. Tozzi, D. Martinelli, M. Verardo, F. Invernizzi, A. Nasca, E. Bellacchio, F. Piemonte, C. Dionisi Vici, R. Carrozzo, E. Bertini, D. Ghezzi

    المساهمون: D. Diodato, G. Tasca, D. Verrigni, A. D'Amico, T. Rizza, G. Tozzi, D. Martinelli, M. Verardo, F. Invernizzi, A. Nasca, E. Bellacchio, D. Ghezzi, F. Piemonte, C. Dionisi Vici, R. Carrozzo, E. Bertini

    مصطلحات موضوعية: Genetic, Genetics (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26173962; info:eu-repo/semantics/altIdentifier/wos/WOS:000370469500029; volume:24; issue:3; firstpage:463; lastpage:466; numberofpages:4; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/523714Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84958163242

    الإتاحة: https://doi.org/10.1038/ejhg.2015.141Test
    http://hdl.handle.net/2434/523714Test

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  7. 7
    Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect

    المؤلفون: D, Verrigni, D, Diodato, M, Di Nottia, A, Torraco, E, Bellacchio, T, Rizza, G, Tozzi, M, Verardo, F, Piemonte, G, Tasca, A, D'Amico, E, Bertini, R, Carrozzo

    المصدر: Clinical genetics. 91(6)

    مصطلحات موضوعية: Electron Transport, Lysine-tRNA Ligase, Mitochondrial Diseases, Phenotype, Adolescent, Mutation, Humans, Female, Genetic Predisposition to Disease, Cardiomyopathy, Hypertrophic, Psychomotor Disorders, Mitochondria

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f54c56747c2b1057f07dfc72bb914e81Test
    https://pubmed.ncbi.nlm.nih.gov/27891585Test


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  8. 8
    DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7

    المؤلفون: M, Di Nottia, M, Masciullo, D, Verrigni, S, Petrillo, A, Modoni, V, Rizzo, D, Di Giuda, T, Rizza, M, Niceta, A, Torraco, M, Bianchi, M, Santoro, A R, Bentivoglio, E, Bertini, F, Piemonte, R, Carrozzo, G, Silvestri

    مصطلحات موضوعية: DJ-1, Electron Transport Complex I, Homozygote, Protein Deglycase DJ-1, Parkinson Disease, Fibroblasts, Middle Aged, Early-onset parkinsonism, Mitochondrial complex I, Mitochondrial disease, Oxidative stress, Genetics, Genetics (clinical), Mitochondria, early-onset parkinsonism, mitochondrial complex I, mitochondrial disease, oxidative stress, Settore MED/26 - NEUROLOGIA, Adenosine Triphosphate, Mutation, Humans, Female, Reactive Oxygen Species, Settore MED/36 - DIAGNOSTICA PER IMMAGINI E RADIOTERAPIA

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5bdd8455c63364e612d19ad7ba4f9612Test
    http://hdl.handle.net/10807/90660Test


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  9. 9
    دورية أكاديمية
    Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

    المؤلفون: D. Cassandrini, M. R. Cilio, M. Bianchi, M. Balestri, A. Tessa, T. Rizza, M. C. Meschini, C. Nesti, G. Tozzi, V. Petruzzella, F. Piemonte, L. Bisceglia, C. Bruno, C. Dionisi Vici, A. D'Amico, F. Fattori, R. Carrozzo, F. M. Santorelli, E. Bertini, DOIMO, MARA, SARTORI, GEPPO, SALVIATI, LEONARDO

    المساهمون: D., Cassandrini, M. R., Cilio, M., Bianchi, Doimo, Mara, M., Balestri, A., Tessa, T., Rizza, Sartori, Geppo, M. C., Meschini, C., Nesti, G., Tozzi, V., Petruzzella, F., Piemonte, L., Bisceglia, C., Bruno, C., Dionisi Vici, A., D'Amico, F., Fattori, R., Carrozzo, Salviati, Leonardo, F. M., Santorelli, E., Bertini

    وصف الملف: ELETTRONICO

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22569581; info:eu-repo/semantics/altIdentifier/wos/WOS:000313494500007; firstpage:43; lastpage:53; numberofpages:11; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/11577/2527788Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84872609485

    الإتاحة: https://doi.org/10.1007/s10545-012-9487-9Test
    http://hdl.handle.net/11577/2527788Test

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  10. 10
    دورية أكاديمية
    Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease : two novel mutations

    المؤلفون: M. Ciccolella, M. Catteruccia, S. Petrini, G. Tozzi, T. Rizza, R. Carrozzo, A. D'Amico, C. Rizzo, E. Bertini, S. Corti, M. Nizzardo, A. Bordoni, D. Ronchi, G.P. Comi

    المساهمون: M. Ciccolella, S. Corti, M. Catteruccia, S. Petrini, G. Tozzi, T. Rizza, R. Carrozzo, M. Nizzardo, A. Bordoni, D. Ronchi, A. D'Amico, C. Rizzo, G.P. Comi, E. Bertini

    مصطلحات موضوعية: Amino Acid Sequence, Bulbar Palsy, Progressive, Child, Preschool, DNA Mutational Analysis, Fatal Outcome, Hearing Loss, Sensorineural, Humans, Male, Membrane Transport Proteins, Molecular Sequence Data, Receptors, G-Protein-Coupled, Sequence Alignment, Settore MED/26 - Neurologia

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23243084; info:eu-repo/semantics/altIdentifier/wos/WOS:000313810700006; volume:50; issue:2; firstpage:104; lastpage:107; numberofpages:4; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/2434/229330Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84873055299

    الإتاحة: https://doi.org/10.1136/jmedgenet-2012-101204Test
    http://hdl.handle.net/2434/229330Test

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