المؤلفون: Matte A., Federti E., Kung C., Kosinski P. A., Narayanaswamy R., Russo R., Federico G., Carlomagno F., Desbats M. A., Salviati L., Leboeuf C., Valenti M. T., Turrini F., Janin A., Yu S., Beneduce E., Ronseaux S., Iatcenko I., Dang L., Ganz T., Jung C. -L., Iolascon A., Brugnara C., De Franceschi L.

المساهمون: Matte, A., Federti, E., Kung, C., Kosinski, P. A., Narayanaswamy, R., Russo, R., Federico, G., Carlomagno, F., Desbats, M. A., Salviati, L., Leboeuf, C., Valenti, M. T., Turrini, F., Janin, A., Yu, S., Beneduce, E., Ronseaux, S., Iatcenko, I., Dang, L., Ganz, T., Jung, C. -L., Iolascon, A., Brugnara, C., De Franceschi, L.

مصطلحات موضوعية: Drug therapy, Genetic disease, Hematology, Mouse model, Animal, Disease Models, Enzyme Activator, Female, Hemolysi, Mice, Transgenic, Piperazine, Pyruvate Kinase, Quinoline, beta-Thalassemia

Relation: info:eu-repo/semantics/altIdentifier/pmid/33822774; info:eu-repo/semantics/altIdentifier/wos/WOS:000652015300005; volume:131; issue:10; journal:THE JOURNAL OF CLINICAL INVESTIGATION; http://hdl.handle.net/11577/3443135; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85106553323

الاتاحة: http://hdl.handle.net/11577/3443135
https://doi.org/10.1172/JCI144206

المؤلفون: Morbidoni V., Baschiera E., Forzan M., Fumini V., Ali D. S., Giorgi G., Buson L., Desbats M. A., Cassina M., Clementi M., Salviati L., Trevisson E.

المساهمون: Morbidoni, V., Baschiera, E., Forzan, M., Fumini, V., Ali, D. S., Giorgi, G., Buson, L., Desbats, M. A., Cassina, M., Clementi, M., Salviati, L., Trevisson, E.

مصطلحات موضوعية: Hypomorphic, Leaky splicing, Minigene, Neurofibromatosis type 1, NF1, Splicing

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/33673681; info:eu-repo/semantics/altIdentifier/wos/WOS:000627957400001; volume:13; issue:5; firstpage:1; lastpage:26; numberofpages:26; journal:CANCERS; http://hdl.handle.net/11577/3389352; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101662088

الاتاحة: http://hdl.handle.net/11577/3389352
https://doi.org/10.3390/cancers13050999

المؤلفون: Favaro G., Romanello V., Varanita T., Andrea Desbats M., Morbidoni V., Tezze C., Albiero M., Canato M., Gherardi G., De Stefani D., Mammucari C., Blaauw B., Boncompagni S., Protasi F., Reggiani C., Scorrano L., Salviati L., Sandri M.

المساهمون: Favaro, G., Romanello, V., Varanita, T., Andrea Desbats, M., Morbidoni, V., Tezze, C., Albiero, M., Canato, M., Gherardi, G., De Stefani, D., Mammucari, C., Blaauw, B., Boncompagni, S., Protasi, F., Reggiani, C., Scorrano, L., Salviati, L., Sandri, M.

مصطلحات موضوعية: Animal, Calcium, Cell Nucleu, Disease Models, Dynamin, Homeostasi, Human, Mice, Knockout, Mitochondria, Muscle, Mitochondrial Dynamic, Mitochondrial Myopathie, Skeletal, Proteasome Endopeptidase Complex, Proteolysi, Ubiquitin, Unfolded Protein Response

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/31189900; info:eu-repo/semantics/altIdentifier/wos/WOS:000471224100006; volume:10; issue:1 / Art. 2576; firstpage:1; lastpage:17; numberofpages:17; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11564/715128; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85067308864; https://www.nature.com/articles/s41467-019-10226-9

الاتاحة: http://hdl.handle.net/11564/715128
https://doi.org/10.1038/s41467-019-10226-9
https://www.nature.com/articles/s41467-019-10226-9

المؤلفون: Mero S., Salviati L., Leuzzi V., Rubegni A., Calderan C., Nardecchia F., Galatolo D., Desbats M. A., Naef V., Gemignani F., Novelli M., Tessa A., Battini R., Santorelli F. M., Marchese M.

المساهمون: Mero, S., Salviati, L., Leuzzi, V., Rubegni, A., Calderan, C., Nardecchia, F., Galatolo, D., Desbats, M. A., Naef, V., Gemignani, F., Novelli, M., Tessa, A., Battini, R., Santorelli, F. M., Marchese, M.

مصطلحات موضوعية: Ataxia, Cas9, COQ4, CRISPR, Yeast complementation assay, Zebrafish

Relation: info:eu-repo/semantics/altIdentifier/pmid/33704555; info:eu-repo/semantics/altIdentifier/wos/WOS:000627716700005; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/11573/1541832; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102491970

الاتاحة: http://hdl.handle.net/11573/1541832
https://doi.org/10.1007/s00415-021-10509-6

المؤلفون: Montioli R., Sgaravizzi G., Desbats M. A., Grottelli S., Voltattorni C. B., Salviati L., Cellini B.

المساهمون: Montioli, R., Sgaravizzi, G., Desbats, M. A., Grottelli, S., Voltattorni, C. B., Salviati, L., Cellini, B.

مصطلحات موضوعية: gyrate atrophy, ornithine aminotransferase, pathogenic variant, pyridoxal phosphate, vitamin B6

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/34395527; info:eu-repo/semantics/altIdentifier/wos/WOS:000685121900007; volume:8; firstpage:695205; journal:FRONTIERS IN MOLECULAR BIOSCIENCES; http://hdl.handle.net/11391/1501799; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85112443465

الاتاحة: http://hdl.handle.net/11391/1501799
https://doi.org/10.3389/fmolb.2021.695205

المؤلفون: Montioli R., Bellezza I., Desbats M. A., Borri Voltattorni C., Salviati L., Cellini B.

المساهمون: Montioli, R., Bellezza, I., Desbats, M. A., Borri Voltattorni, C., Salviati, L., Cellini, B.

مصطلحات موضوعية: Gyrate atrophy of the choroid and retina, Ornithine aminotransferase, Pathogenic variants, Pyridoxal phosphate, Retinal cells, Vitamin B6

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/33068755; info:eu-repo/semantics/altIdentifier/wos/WOS:000596828700013; volume:1869; issue:1; firstpage:140555; journal:BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS; http://hdl.handle.net/11391/1490068; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85093982581

الاتاحة: http://hdl.handle.net/11391/1490068
https://doi.org/10.1016/j.bbapap.2020.140555

المؤلفون: Baschiera E., Sorrentino U., Calderan C., Desbats M. A., Salviati L.

المساهمون: Baschiera, E., Sorrentino, U., Calderan, C., Desbats, M. A., Salviati, L.

مصطلحات موضوعية: Apoptosi, Coenzyme Q, Coenzyme Q deficiency, Ferroptosi, Mitochondrial dehydrogenase, ROS, Sulfide detoxification, Ataxia, Homeostasi, Human, Muscle Weakne, Mitochondrial Disease, Ubiquinone

Relation: info:eu-repo/semantics/altIdentifier/pmid/33667628; info:eu-repo/semantics/altIdentifier/wos/WOS:000632735200004; volume:166; firstpage:277; lastpage:286; numberofpages:10; journal:FREE RADICAL BIOLOGY & MEDICINE; https://hdl.handle.net/11577/3405086; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102145936

الاتاحة: https://hdl.handle.net/11577/3405086
https://doi.org/10.1016/j.freeradbiomed.2021.02.039

المؤلفون: Acosta Lopez M. J., Trevisson E., Canton M., Vazquez-Fonseca L., Morbidoni V., Baschiera E., Frasson C., Pelosi L., Rascalou B., Desbats M. A., Alcazar-Fabra M., Rios J. J., Sanchez-Garcia A., Basso G., Navas P., Pierrel F., Brea-Calvo G., Salviati L.

المساهمون: Acosta Lopez, M. J., Trevisson, E., Canton, M., Vazquez-Fonseca, L., Morbidoni, V., Baschiera, E., Frasson, C., Pelosi, L., Rascalou, B., Desbats, M. A., Alcazar-Fabra, M., Rios, J. J., Sanchez-Garcia, A., Basso, G., Navas, P., Pierrel, F., Brea-Calvo, G., Salviati, L.

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/31379988; info:eu-repo/semantics/altIdentifier/wos/WOS:000476787800001; volume:2019; firstpage:1; lastpage:11; numberofpages:11; journal:OXIDATIVE MEDICINE AND CELLULAR LONGEVITY; http://hdl.handle.net/11577/3308556; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85071186544

الاتاحة: http://hdl.handle.net/11577/3308556
https://doi.org/10.1155/2019/3904905

المؤلفون: Vazquez-Fonseca, L., Doimo, M., Calderan, C., Desbats, M. A., Acosta, M. J., Cerqua, C., Cassina, M., Ashraf, S., Hildebrandt, Friedhelm, Sartori, G., Navas, Plácido, Trevisson, E., Salviati, L.

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: food and beverages

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0e5bef5d5d99fcbb7a6a06b14cdf5850
http://hdl.handle.net/10261/190232

المؤلفون: Andrea Desbats M, Morbidoni V, Silic-Benussi M, Doimo M, Ciminale V, Cassina M, Sacconi S, Hirano M, Basso G, Fabien Pierrel, Navas P, Salviati L, Trevisson E

المصدر: Europe PubMed Central

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7fc2787ef04157e59f70e1c2d418af08
http://europepmc.org/abstract/med/27493029

المؤلفون: Charles Kung, Carlo Brugnara, Maria Teresa Valenti, Sebastien Ronseaux, Iana Iatcenko, Tomas Ganz, Anne Janin, Penelope A. Kosinski, Rohini Narayanaswamy, Leonardo Salviati, Achille Iolascon, Francesca Carlomagno, Shaoxia Yu, Giorgia Federico, Enrica Federti, Lucia De Franceschi, Chun-Ling Jung, Alessandro Matte, Roberta Russo, Francesco Michelangelo Turrini, Elisabetta Beneduce, Christophe Leboeuf, Maria Andrea Desbats, Lenny Dang

المساهمون: Università degli studi di Verona = University of Verona (UNIVR), Agios Pharmaceuticals, CEINGE - Biotecnologie Avanzate, University of Naples Federico II = Università degli studi di Napoli Federico II, Università degli Studi di Padova = University of Padua (Unipd), Marqueurs cardiovasculaires en situation de stress (MASCOT (UMR_S_942 / U942)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)-Université Sorbonne Paris Nord, Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Università degli studi di Torino = University of Turin (UNITO), Université Paris Cité - UFR Médecine [Santé] (UPCité UFR Médecine), Université Paris Cité (UPCité), University of California [Los Angeles] (UCLA), University of California (UC), Harvard Medical School [Boston] (HMS), leboeuf, Christophe, Matte, A., Federti, E., Kung, C., Kosinski, P. A., Narayanaswamy, R., Russo, R., Federico, G., Carlomagno, F., Desbats, M. A., Salviati, L., Leboeuf, C., Valenti, M. T., Turrini, F., Janin, A., Yu, S., Beneduce, E., Ronseaux, S., Iatcenko, I., Dang, L., Ganz, T., Jung, C. -L., Iolascon, A., Brugnara, C., De Franceschi, L.

المصدر: The Journal of clinical investigation
The Journal of clinical investigation, 2021, 131 (10), pp.e144206. ⟨10.1172/jci144206⟩
J Clin Invest

مصطلحات موضوعية: 0301 basic medicine, Ineffective erythropoiesis, thalassemia, Enzyme Activator, Genetic disease, Quinoline, medicine.disease_cause, Mouse models, Transgenic, Piperazines, Mice, 0302 clinical medicine, hemic and lymphatic diseases, Glycolysis, Chemistry, General Medicine, Hematology, Erythroferrone, Hemolysis, 030220 oncology & carcinogenesis, Drug therapy, Genetic diseases, Animals, Disease Models, Animal, Enzyme Activators, Female, Mice, Transgenic, Pyruvate Kinase, Quinolines, beta-Thalassemia, Erythropoiesis, HAMP, medicine.drug, Research Article, medicine.medical_specialty, Hemolysi, [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT], Mouse model, 03 medical and health sciences, Internal medicine, medicine, Piperazine, ineffective erythropoiesis, [SDV.OT] Life Sciences [q-bio]/Other [q-bio.OT], Animal, medicine.disease, 030104 developmental biology, Endocrinology, Erythropoietin, Disease Models, iron homeostasis, Pyruvate kinase

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d41cc272a7692f282ce5e5195c770def
http://hdl.handle.net/11577/3443135