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1دورية أكاديمية
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
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2
المؤلفون: Massimo Zeviani, Silvia Marchet, I. Di Meo, C. Lamperti, Carlo Viscomi
المصدر: Gene Therapy
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Short Communication, Genetic enhancement, Mitochondrial disease, Genetic Vectors, Gene delivery, Pharmacology, Biology, Inbred C57BL, Virus, Injections, Pathogenesis, Mice, 03 medical and health sciences, Genetics, medicine, Animals, Humans, Vector (molecular biology), Molecular Biology, Brain, Dependovirus, Electron Transport Complex I, Genetic Therapy, Injections, Intravenous, Leigh Disease, Mice, Inbred C57BL, Phenotype, NDUFS4, medicine.disease, 3. Good health, 030104 developmental biology, Molecular Medicine, Intravenous
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f4c71852d02b07bd5872660efdf02a1Test
https://doi.org/10.1038/gt.2017.53Test -
3
المؤلفون: C. Corona, Emanuela Bottani, P. Crociara, I. Di Meo, Mark A. Johnson, Carlo Viscomi, Valeria Tiranti, S. Grifoni, Cesare Galli, Erika Fernandez-Vizarra, C. Casalone, Corinne Quadalti, Giovanna Lazzari, Irina Lagutina, Dario Brunetti, Massimo Zeviani, Raffaele Cerutti, Andrea Perota, Roberto Duchi, Alan J. Robinson
المصدر: Biochimica et Biophysica Acta
مصطلحات موضوعية: 0301 basic medicine, Central Nervous System, Male, Nuclear Transfer Techniques, Sus scrofa, Mitochondrion, Animals, Genetically Modified, SURF1 KO, Gene Knockout Techniques, 0302 clinical medicine, Genome editing, Leigh syndrome, Mitochondrial disease, Pig, Animals, Animals, Newborn, Behavior, Animal, CRISPR-Cas Systems, Cells, Cultured, Down-Regulation, Electron Transport Complex IV, Female, Fibroblasts, Gene Editing, Humans, Jejunum, Leigh Disease, Membrane Proteins, Mitochondria, Mitochondrial Proteins, Muscle, Skeletal, Primary Cell Culture, Disease Models, Animal, SURF1, Cultured, Skeletal, Phenotype, Muscle, Molecular Medicine, Cells, Genetically Modified, Biology, Article, Andrology, 03 medical and health sciences, medicine, Leigh disease, Molecular Biology, Gene, Behavior, Animal, Wild type, Newborn, medicine.disease, 030104 developmental biology, MRNA Sequencing, Disease Models, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd8180f9330793551c12de446ad0c429Test
https://pubmed.ncbi.nlm.nih.gov/29601977Test -
4
المؤلفون: Valeria Tiranti, Monica Boyer, Mary Sowa, I. Di Meo, Jose E. Abdenur, Maija R. Steenari, S. Eftekharian
المصدر: Molecular genetics and metabolism. 124(1)
مصطلحات موضوعية: 0301 basic medicine, Male, Nucleocytoplasmic Transport Proteins, Endocrinology, Diabetes and Metabolism, Compound heterozygosity, Biochemistry, Gastroenterology, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Ethylmalonic encephalopathy, Methionine, Amino Acids, Neomycin, Hypotonia, Diarrhea, Female, medicine.symptom, medicine.drug, medicine.medical_specialty, Mitochondrial Proteins, 03 medical and health sciences, Neonatal Screening, Internal medicine, Metronidazole, Genetics, medicine, Humans, Cysteine, Lactic Acid, Molecular Biology, Purpura, Newborn screening, business.industry, Infant, Newborn, Brain Diseases, Metabolic, Inborn, Infant, medicine.disease, Malonates, Acetylcysteine, Diet, 030104 developmental biology, chemistry, Mutation, business, 030217 neurology & neurosurgery, Biomarkers, Sulfur
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30d23500788ff82f74f6d4ef40b6847dTest
https://pubmed.ncbi.nlm.nih.gov/29526615Test -
5دورية أكاديمية
المؤلفون: GIORDANO, Carla, ORLANDI, MAURIZIA, PAPOFF, PAOLA, LEUZZI, Vincenzo, D'AMATI, Giulia, Carlo Viscomi, Alberto Spalice, Alberto Burlina, I. Di Meo, Valeria Tiranti, Massimo Zeviani
المساهمون: Giordano, Carla, Carlo, Viscomi, Orlandi, Maurizia, Papoff, Paola, Spalice, Alberto, Alberto, Burlina, Di Meo, I., Valeria, Tiranti, Leuzzi, Vincenzo, D'Amati, Giulia, Massimo, Zeviani
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22020834; info:eu-repo/semantics/altIdentifier/wos/WOS:000302492300010; volume:35; issue:3; firstpage:451; lastpage:458; numberofpages:8; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/11573/401565Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84863318000; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000302492300010&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest; http://www.scopus.com/inward/record.url?eid=2-s2.0-84863318000&partnerID=65&md5=83b751d02e305701e749ddbb468724caTest
الإتاحة: https://doi.org/10.1007/s10545-011-9408-3Test
http://hdl.handle.net/11573/401565Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000302492300010&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-84863318000&partnerID=65&md5=83b751d02e305701e749ddbb468724caTest -
6
المؤلفون: C Perletti, Federica Invernizzi, Massimo Zeviani, Angelo Burlina, U. von Döbeln, B Heese, Rossana Mineri, Valeria Tiranti, S Koskull, I. Di Meo, Paolo Mereghetti, G. Uziel, Marco Rimoldi
مصطلحات موضوعية: Models, Molecular, Male, Pediatrics, Nucleocytoplasmic Transport Proteins, medicine.disease_cause, Polymerase Chain Reaction, Cohort Studies, Ethylmalonic encephalopathy, Models, Missense mutation, Child, Genetics (clinical), Mutation, Brain Diseases, Acrocyanosis, Metabolic disorder, Single Nucleotide, Neurogastroenterology, Child, Preschool, ETHE1, Female, medicine.medical_specialty, Adolescent, Encephalopathy, Molecular Sequence Data, Mutation, Missense, Polymorphism, Single Nucleotide, Mitochondrial Proteins, Internal medicine, Carnitine, Genetics, medicine, Humans, Amino Acid Sequence, Polymorphism, Preschool, Base Sequence, Brain Diseases, Metabolic, Inborn, DNA, Infant, Sequence Alignment, business.industry, Molecular, medicine.disease, Endocrinology, Inborn, Metabolic, Missense, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af4f8c480ab43f2b223d688ce06b454dTest
http://hdl.handle.net/11577/3354311Test -
7دورية أكاديمية
المؤلفون: Alessia Di Donfrancesco, Giulia Massaro, Ivano Di Meo, Valeria Tiranti, Emanuela Bottani, Dario Brunetti
المساهمون: A. Di Donfrancesco, G. Massaro, I. DI MEO, V. Tiranti, E. Bottani, D. Brunetti
مصطلحات موضوعية: mitochondria, mitochondrial DNA, mitochondrial disease, gene therapy, precision medicine, Settore BIO/14 - Farmacologia, Settore BIO/11 - Biologia Molecolare, Settore MED/03 - Genetica Medica, Settore BIO/18 - Genetica
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000816037700001; volume:14; firstpage:1; lastpage:30; numberofpages:30; journal:PHARMACEUTICS; http://hdl.handle.net/2434/931665Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85132766436
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8دورية أكاديمية
المؤلفون: Ivano Di Meo, Chiara Cavestro, Silvia Pedretti, Tingting Fu, Simona Ligorio, Antonello Manocchio, Lucrezia Lavermicocca, Paolo Santambrogio, Maddalena Ripamonti, Levi Sonia, Sophie Ayciriex, Nico Mitro, Valeria Tiranti
المساهمون: I. Di Meo, C. Cavestro, S. Pedretti, T. Fu, S. Ligorio, A. Manocchio, L. Lavermicocca, P. Santambrogio, M. Ripamonti, L. Sonia, S. Ayciriex, N. Mitro, V. Tiranti
مصطلحات موضوعية: neurodegeneration, CoPAN (COASY protein-associated neurodegeneration), NBIA (neurodegeneration with brain iron accumulation), coenzyme A, iron, mitochondria, mouse model, Settore BIO/10 - Biochimica
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000602933900001; volume:21; issue:24; numberofpages:20; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/2434/800797Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85098291968
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9دورية أكاديمية
المؤلفون: Quadalti, C., BRUNETTI, DARIO, Lagutina, I., Duchi, R., PEROTA, ANDREA, Lazzari, G., Cerutti, R., Di Meo, I., Johnson, M., Bottani, E., CROCIARA, PAOLA, Corona, C., Grifoni, S., Tiranti, V., Fernandez-Vizarra, E., Robinson, A. J., VISCOMI, CARLO FIORE, Casalone, C., Zeviani, M., Galli, C.
المساهمون: C. Quadalti, D. Brunetti, I. Lagutina, R. Duchi, A. Perota, G. Lazzari, R. Cerutti, I. Di Meo, M. Johnson, E. Bottani, P. Crociara, C. Corona, S. Grifoni, V. Tiranti, E. Fernandez-Vizarra, A.J. Robinson, C.F. Viscomi, C. Casalone, M. Zeviani, C. Galli
مصطلحات موضوعية: Genome editing, Leigh syndrome, Mitochondrial disease, Pig, SURF1 KO, Animal, Animals, Genetically Modified, Newborn, Behavior, CRISPR-Cas System, Cells, Cultured, Central Nervous System, Down-Regulation, Electron Transport Complex IV, Female, Fibroblast, Gene Editing, Gene Knockout Technique, Human, Jejunum, Leigh Disease, Male, Membrane Protein, Mitochondria, Mitochondrial Protein, Muscle, Skeletal, Nuclear Transfer Technique
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29601977; info:eu-repo/semantics/altIdentifier/wos/WOS:000432105600012; volume:1864; issue:6; firstpage:2131; lastpage:2142; numberofpages:12; journal:BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE; http://hdl.handle.net/2434/622794Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85044934819
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10دورية أكاديمية
المؤلفون: Nasca A., Di Meo I., Fellig Y., Saada A., Elpeleg O., Ghezzi D., Edvardson S.
المساهمون: A. Nasca, I. Di Meo, Y. Fellig, A. Saada, O. Elpeleg, D. Ghezzi, S. Edvardson
مصطلحات موضوعية: Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33612823; info:eu-repo/semantics/altIdentifier/wos/WOS:000620106700001; numberofpages:6; journal:JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/826585Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101282801
