المؤلفون: Lamperti C., Fang M., Invernizzi F., Liu X., Wang H., Zhang Q., Carrara F., Moroni I., Zeviani M., Zhang J., Ghezzi D.

المساهمون: Lamperti, C., Fang, M., Invernizzi, F., Liu, X., Wang, H., Zhang, Q., Carrara, F., Moroni, I., Zeviani, M., Zhang, J., Ghezzi, D.

مصطلحات موضوعية: Encephalomyopathy, Exome-sequencing, Mitochondrial disorder, Mitochondrial DNA depletion, SUCLA2, Adolescent, Amino Acid Sequence, Child, DNA, Mitochondrial, Female, Homozygote, Human, Mitochondrial Encephalomyopathie, Molecular Sequence Data, Muscle, Skeletal, Pedigree, Sequence Alignment, Sequence Analysis, Sibling, Succinate-CoA Ligase, Exome, Mutation, Missense

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23010432; info:eu-repo/semantics/altIdentifier/wos/WOS:000310720200023; volume:107; issue:3; firstpage:403; lastpage:408; numberofpages:6; journal:MOLECULAR GENETICS AND METABOLISM; http://hdl.handle.net/11577/3354236Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84867897582

الإتاحة: https://doi.org/10.1016/j.ymgme.2012.08.020Test
http://hdl.handle.net/11577/3354236Test

المؤلفون: Hirano M., Garone C., Quinzii C. M.

المساهمون: Hirano M., Garone C., Quinzii C.M.

مصطلحات موضوعية: Coenzyme Q, Mitochondria, Mitochondrial DNA, MNGIE, Thymidine phosphorylase, Ubiquinone, Human, Mitochondrial Disease, Mitochondrial Encephalomyopathie

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22274133; info:eu-repo/semantics/altIdentifier/wos/WOS:000303135900012; volume:1820; issue:5; firstpage:625; lastpage:631; numberofpages:7; journal:BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS; http://hdl.handle.net/11585/716741Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84859436493

الإتاحة: https://doi.org/10.1016/j.bbagen.2012.01.006Test
http://hdl.handle.net/11585/716741Test

المؤلفون: DiMauro S., Garone C.

المساهمون: DiMauro S., Garone C.

مصطلحات موضوعية: Fetal presentation, Glycogen, Glycogen storage disease, Mitochondria, Mitochondrial encephalomyopathie, Mitochondrial respiratory chain, Neonatal presentation, Electron Transport, Fetal Disease, Human, Infant, Newborn, Metabolic Disease

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21620786; info:eu-repo/semantics/altIdentifier/wos/WOS:000293263300003; volume:16; issue:4; firstpage:181; lastpage:189; numberofpages:9; journal:SEMINARS IN FETAL & NEONATAL MEDICINE; http://hdl.handle.net/11585/716747Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-80955181051

الإتاحة: https://doi.org/10.1016/j.siny.2011.04.010Test
http://hdl.handle.net/11585/716747Test

المؤلفون: Garone C., Tadesse S., Hirano M.

المساهمون: Garone C., Tadesse S., Hirano M.

مصطلحات موضوعية: BMT, encephalomyopathy, mitochondrial disease, MNGIE, TYMP, Adolescent, Adult, Age of Onset, Child, Preschool, Diagnostic Error, Disease Progression, Gastrointestinal Disease, Gastrointestinal Motility, Human, Infant, Intestinal Pseudo-Obstruction, Middle Aged, Mitochondrial Encephalomyopathie, Muscle, Skeletal, Muscular Dystrophy, Oculopharyngeal, Mutation, Thymidine Phosphorylase

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21933806; info:eu-repo/semantics/altIdentifier/wos/WOS:000296976500025; volume:134; issue:11; firstpage:3326; lastpage:3332; numberofpages:7; journal:BRAIN; http://hdl.handle.net/11585/716745Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-81055133547; http://brain.oxfordjournals.orgTest/

الإتاحة: https://doi.org/10.1093/brain/awr245Test
http://hdl.handle.net/11585/716745Test
http://brain.oxfordjournals.orgTest/

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

المؤلفون: MASSA, ROBERTO, Tessa, A, Margollicci, M, Micheli, V, Romigi, A, Tozzi, G, Terracciano, C, Piemonte, F, BERNARDI, GIORGIO, Santorelli, FM

المساهمون: Massa, R, Tessa, A, Margollicci, M, Micheli, V, Romigi, A, Tozzi, G, Terracciano, C, Piemonte, F, Bernardi, G, Santorelli, F

مصطلحات موضوعية: Cells, Cultured, Middle Aged, Mitochondrial Encephalomyopathie, Mutation, Female, Phenotype, Peripheral Nerve, Fibroblast, Human, Missense, Thymidine Phosphorylase, Thymidine, Age of Onset, Brain, Settore MED/26 - NEUROLOGIA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19853446; info:eu-repo/semantics/altIdentifier/wos/WOS:000272874600008; volume:19; issue:12; firstpage:837; lastpage:840; numberofpages:4; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/2108/14929Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-70449533675

الإتاحة: https://doi.org/10.1016/j.nmd.2009.08.013Test
http://hdl.handle.net/2108/14929Test

المؤلفون: Valente L., Piga D., Lamantea E., Carrara F., Uziel G., Cudia P., Zani A., Farina L., Morandi L., Mora M., Spinazzola A., Zeviani M., Tiranti V.

المساهمون: Valente, L., Piga, D., Lamantea, E., Carrara, F., Uziel, G., Cudia, P., Zani, A., Farina, L., Morandi, L., Mora, M., Spinazzola, A., Zeviani, M., Tiranti, V.

مصطلحات موضوعية: Mitochondrial DNA, mtDNA mutation, mtDNA Sequence analysi, Respiratory chain complex deficiency, Adult, Brain, Child, DNA, DNA Primer, Mitochondrial, Electron Transport Complex IV, Human, Magnetic Resonance Imaging, Mitochondria, Muscle, Mitochondrial Encephalomyopathie, Skeletal, NADH Dehydrogenase, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Succinate Dehydrogenase, Mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/18977334; info:eu-repo/semantics/altIdentifier/wos/WOS:000266475400025; volume:1787; issue:5; firstpage:491; lastpage:501; numberofpages:11; journal:BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS; http://hdl.handle.net/11577/3354305Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-67349197091

الإتاحة: https://doi.org/10.1016/j.bbabio.2008.10.001Test
http://hdl.handle.net/11577/3354305Test

المؤلفون: Lamperti, C, Zeviani, M

المساهمون: Lamperti, C, Zeviani, M

مصطلحات موضوعية: Adenine Nucleotide Translocator 1, Cytochrome Reductase, DNA, DNA Helicase, DNA Polymerase gamma, Mitochondrial, DNA-Directed DNA Polymerase, Disease Progression, GTP Phosphohydrolase, Human, Mitochondrial Encephalomyopathie, Mitochondrial Protein, Thymidine Phosphorylase, Gene Deletion

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19772189; volume:28; issue:1; firstpage:2-11; journal:ACTA MYOLOGICA; http://hdl.handle.net/11577/3354285Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-70349488018

الإتاحة: http://hdl.handle.net/11577/3354285Test

المؤلفون: Papa, Sergio, Petruzzella, Vittoria, Scacco, Salvatore, Sardanelli, Anna Maria, Iuso, Arcangela, Panelli, Damiano, Vitale, Rita, Trentadue, Raffaella, De Rasmo, Domenico, Capitanio, Nazzareno, Piccoli, Claudia, Papa, Francesco, Scivetti, Michele, Bertini, Enrico, Rizza, Teresa, De Michele, Giuseppe

المساهمون: Papa, Sergio, Petruzzella, Vittoria, Scacco, Salvatore, Sardanelli, Anna Maria, Iuso, Arcangela, Panelli, Damiano, Vitale, Rita, Trentadue, Raffaella, De Rasmo, Domenico, Capitanio, Nazzareno, Piccoli, Claudia, Papa, Francesco, Scivetti, Michele, Bertini, Enrico, Rizza, Teresa, De Michele, Giuseppe

مصطلحات موضوعية: Chronic epilepsy, Complex I, Familiar Parkinsonism, Mitochondrial encephalopathy, mtDNA mutation, NDUFS1, NDUFS4, PINK1, ROS balance, Amino Acid Sequence, DNA, Mitochondrial, Electron Transport Complex I, Epilepsy, Human, Mitochondrial Encephalomyopathie, Models, Molecular, Molecular Conformation, Molecular Sequence Data, NADH Dehydrogenase, Nervous System Disease, Parkinson Disease, Reactive Oxygen Specie, Mutation, Biophysic, Biochemistry, Cell Biology

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19210954; volume:1787; issue:5; firstpage:502; lastpage:517; numberofpages:16; journal:BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS; http://hdl.handle.net/11369/370979Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-65449188311

الإتاحة: https://doi.org/10.1016/j.bbabio.2008.12.018Test
http://hdl.handle.net/11369/370979Test

المؤلفون: Spinazzola A., Invernizzi F., Carrara F., Lamantea E., Donati A., DiRocco M., Giordano I., Meznaric-Petrusa M., Baruffini E., Ferrero I., Zeviani M.

المساهمون: Spinazzola, A., Invernizzi, F., Carrara, F., Lamantea, E., Donati, A., Dirocco, M., Giordano, I., Meznaric-Petrusa, M., Baruffini, E., Ferrero, I., Zeviani, M.

مصطلحات موضوعية: Acidosis, Lactic, Age of Onset, Brain, Child, Preschool, Cohort Studie, DNA, Mitochondrial, Electroencephalography, Electromyography, Female, Human, Infant, Newborn, Liver, Magnetic Resonance Imaging, Male, Mitochondrial Disease, Mitochondrial Encephalomyopathie, Mitochondrial Myopathie, Muscle, Skeletal, Mutation, Thymidine Kinase

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19125351; info:eu-repo/semantics/altIdentifier/wos/WOS:000264856300002; volume:32; issue:2; firstpage:143; lastpage:158; numberofpages:16; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/11577/3354299Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-64449087543

الإتاحة: https://doi.org/10.1007/s10545-008-1038-zTest
http://hdl.handle.net/11577/3354299Test