المؤلفون: A. Ardissone, G. Piscosquito, A. Legati, T. Langella, E. Lamantea, B. Garavaglia, E. Salsano, L. Farina, I. Moroni, D. Pareyson, D. Ghezzi

المساهمون: A. Ardissone, G. Piscosquito, A. Legati, T. Langella, E. Lamantea, B. Garavaglia, E. Salsano, L. Farina, I. Moroni, D. Pareyson, D. Ghezzi

مصطلحات موضوعية: adult, age of onset, apoptosis inducing factor, disease progression, human, male, mitochondrial encephalomyopathie, neurology (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25934856; info:eu-repo/semantics/altIdentifier/wos/WOS:000355317000021; volume:84; issue:21; firstpage:2193; lastpage:2195; numberofpages:3; journal:NEUROLOGY; http://hdl.handle.net/2434/523752Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84929880899

الإتاحة: https://doi.org/10.1212/WNL.0000000000001613Test
http://hdl.handle.net/2434/523752Test

المؤلفون: K. Meyer, S. Buettner, M. Zeviani, D. Bano, P. Nicotera, D. Ghezzi

المساهمون: K. Meyer, S. Buettner, D. Ghezzi, M. Zeviani, D. Bano, P. Nicotera

مصطلحات موضوعية: animal, apoptosi, apoptosis inducing factor, human, mice, mitochondria, mitochondrial membrane transport protein, oxidative phosphorylation, immunology, cellular and molecular neuroscience, cell biology, cancer research, Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26158520; info:eu-repo/semantics/altIdentifier/wos/WOS:000358788800014; volume:6; numberofpages:5; journal:CELL DEATH & DISEASE; http://hdl.handle.net/2434/523735Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84948457141

الإتاحة: https://doi.org/10.1038/cddis.2015.170Test
http://hdl.handle.net/2434/523735Test

المؤلفون: RINALDI, CARLO, C. Grunseich, I. F. Sevrioukova, A. Schindler, I. Horkayne Szakaly, C. Lamperti, G. Landouré, M. L. Kennerson, B. G. Burnett, C. Bönnemann, L. G. Biesecker, D. Ghezzi, M. Zeviani, K. H. Fischbeck

المساهمون: Rinaldi, Carlo, C., Grunseich, I. F., Sevrioukova, A., Schindler, I., Horkayne Szakaly, C., Lamperti, G., Landouré, M. L., Kennerson, B. G., Burnett, C., Bönnemann, L. G., Biesecker, D., Ghezzi, M., Zeviani, K. H., Fischbeck

مصطلحات موضوعية: Apoptosis Inducing Factor, chemistry/genetics/metabolism, Apoptosi, genetics, Base Sequence, Brain, pathology, Cell Nucleu, genetics/metabolism, Charcot-Marie-Tooth Disease, diagnosis/genetics/metabolism, Exons, Hearing Lo, Sensorineural, Humans, Magnetic Resonance Imaging, Male, Mental Retardation, X-Linked, Mitochondria, genetics/metabolism/ultrastructure, Model, Molecular, Muscle, Skeletal, metabolism/pathology/ultrastructure, Mutation, Neuroimaging, Oxidation-Reduction, Pedigree

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000312417400013; volume:91; issue:6; firstpage:1095; lastpage:1102; numberofpages:8; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11588/597934Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84870926172; http://dx.doi.org/10.1016/j.ajhg.2012.10.008Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2012.10.008Test
http://hdl.handle.net/11588/597934Test

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

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

مصطلحات موضوعية: Apoptosis Inducing Factor, Caspase 3, Computer Simulation, DNA Primer, DNA, Mitochondrial, Dietary Supplement, Electron Transport, Female, Fibroblast, Flavin-Adenine Dinucleotide, Human, In Situ Nick-End Labeling, Infant, Newborn, Magnetic Resonance Imaging, Male, Mitochondrial Encephalomyopathie, Muscle, Skeletal, Mutation, Nervous System Disease, Pedigree, Poly (ADP-Ribose) Polymerase-1, Poly(ADP-ribose) Polymerase, Protein Conformation, Riboflavin, Staurosporine, Twins, Monozygotic

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20362274; info:eu-repo/semantics/altIdentifier/wos/WOS:000276716800016; volume:86; issue:4; firstpage:639; lastpage:649; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/826589Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77950326171

الإتاحة: https://doi.org/10.1016/j.ajhg.2010.03.002Test
http://hdl.handle.net/2434/826589Test

المؤلفون: Marina Mora, Graziella Uziel, Irina F. Sevrioukova, Orsetta Zuffardi, Federica Invernizzi, Pio D'Adamo, Daniele Ghezzi, Francesca Novara, Massimo Zeviani, Costanza Lamperti

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

المصدر: The American Journal of Human Genetics. (4):639-649

مصطلحات موضوعية: Mitochondrial encephalomyopathy, Male, DNA Primer, Riboflavin, Respiratory chain, Poly (ADP-Ribose) Polymerase-1, Apoptosis, Gene, drug effect [Skeletal], Apoptosis Inducing Factor, Apoptosis Inducing Factor: genetics, Apoptosis Inducing Factor: metabolism, Caspase 3, Caspase 3: metabolism, Computer Simulation, DNA, DNA Primers, DNA Primers: chemistry, Dietary Supplements, Electron Transport, Electron Transport: physiology, Female, Fibroblasts, Fibroblasts: cytology, Fibroblasts: drug effects, Fibroblasts: metabolism, Flavin-Adenine Dinucleotide, Flavin-Adenine Dinucleotide: metabolism, Genes, Humans, In Situ Nick-End Labeling, Infant, Magnetic Resonance Imaging, Mitochondrial, Mitochondrial Encephalomyopathies, Mitochondrial Encephalomyopathies: genetics, Mitochondrial Encephalomyopathies: metabolism, Mitochondrial Encephalomyopathies: pathology, Mitochondrial: genetics, Mitochondrial: metabolism, Monozygotic, Muscle, Mutation, Mutation: genetics, Nervous System Diseases, Nervous System Diseases: drug therapy, Nervous System Diseases: etiology, Newborn, Pedigree, Poly(ADP-ribose) Polymerases, Poly(ADP-ribose) Polymerases: metabolism, Protein Conformation, Riboflavin: administration \& dosage, Skeletal, Skeletal: cytology, Skeletal: drug effects, Skeletal: metabolism, Staurosporine, Staurosporine: pharmacology, Twins, X-Linked, Genes, X-Linked, Genetics(clinical), genetic [Mitochondrial], Poly(ADP-ribose) Polymerase, metabolism [Poly(ADP-ribose) Polymerases], chemistry [DNA Primers], Apoptosis-inducing factor, pathology [Mitochondrial Encephalomyopathies], metabolism [Fibroblasts], Human, DNA, Mitochondrial, genetic [Mutation], Genetics, metabolism [Caspase 3], Dietary Supplement, metabolism [Mitochondrial], Apoptosi, medicine.disease, metabolism [Skeletal], Monozygotic twin, drug effect [Fibroblasts], Mitochondrion, Mitochondrial Encephalomyopathie, Mitochondrial myopathy, cytology [Fibroblasts], Nervous System Disease, Genetics (clinical), cytology [Skeletal], metabolism [Mitochondrial Encephalomyopathies], physiology [Electron Transport], Biochemistry, metabolism [Flavin-Adenine Dinucleotide], Fibroblast, genetic [Mitochondrial Encephalomyopathies], AIFM1, Infant, Newborn, Muscle, Skeletal, Twins, Monozygotic, Biology, genetic [Apoptosis Inducing Factor], etiology [Nervous System Diseases], Severe X-linked mitochondrial encephalomyopathy, Report, pharmacology [Staurosporine], medicine, Twin, Molecular biology, metabolism [Apoptosis Inducing Factor], drug therapy [Nervous System Diseases], administration \& dosage [Riboflavin]

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64ac9f47428b5dc54035e607c3897c64Test