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

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

مصطلحات موضوعية: Encephalopathy, Mitochondrial disorder, OPA1, Optic atrophy, Recessive trait, Targeted resequencing, WES, Blotting, Western, Brain Disease, Child, Preschool, Electrophysiology, GTP Phosphohydrolase, Human, Infant, Male, Microscopy, Fluorescence, Mutation, Autosomal Dominant, Tomography, Optical Coherence, Whole Exome Sequencing

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/11577/3405079Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018923242

الإتاحة: https://doi.org/10.1186/s13023-017-0641-1Test
http://hdl.handle.net/11577/3405079Test

المؤلفون: Marchet S., Invernizzi F., Blasevich F., Bruno V., Dusi S., Venco P., Fiorillo C., Baranello G., Pallotti F., Lamantea E., Mora M., Tiranti V., Lamperti C.

المساهمون: Marchet, S., Invernizzi, F., Blasevich, F., Bruno, V., Dusi, S., Venco, P., Fiorillo, C., Baranello, G., Pallotti, F., Lamantea, E., Mora, M., Tiranti, V., Lamperti, C.

مصطلحات موضوعية: CHKB, JC-1, Megaconial CMD, Membrane phospholipid, Mitochondria, Child, Preschool, Female, Human, Italy, Membrane Potential, Mitochondrial, Choline Kinase, Muscle, Mitochondrial Membrane, Skeletal, Muscular Dystrophie, Mutation

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30986505; info:eu-repo/semantics/altIdentifier/wos/WOS:000475547200004; volume:47; firstpage:24; lastpage:29; numberofpages:6; journal:MITOCHONDRION; http://hdl.handle.net/11383/2097444Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85065039547

الإتاحة: https://doi.org/10.1016/j.mito.2019.04.002Test
http://hdl.handle.net/11383/2097444Test

المؤلفون: Legati A., Reyes A., Nasca A., Invernizzi F., Lamantea E., Tiranti V., Garavaglia B., Lamperti C., Ardissone A., Moroni I., Robinson A., Ghezzi D., Zeviani M.

المساهمون: Legati, A., Reyes, A., Nasca, A., Invernizzi, F., Lamantea, E., Tiranti, V., Garavaglia, B., Lamperti, C., Ardissone, A., Moroni, I., Robinson, A., Ghezzi, D., Zeviani, M.

مصطلحات موضوعية: E4F1, Mitochondrial disorder, Next Generation Sequencing, Whole Exome sequencing, Adolescent, Amino Acid Sequence, Child, Preschool, Cohort Studie, DNA, Mitochondrial, Electron Transport, Electron Transport Chain Complex Protein, Exome, Female, Gene Expression, Heterozygote, High-Throughput Nucleotide Sequencing, Homozygote, Human, Infant, Male, Mitochondria, Mitochondrial Disease, Molecular Sequence Data, Repressor Protein, Sequence Alignment, Young Adult, Mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26968897; info:eu-repo/semantics/altIdentifier/wos/WOS:000378179300033; volume:1857; issue:8; firstpage:1326; lastpage:1335; numberofpages:10; journal:BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS; http://hdl.handle.net/11577/3354191Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84962199060

الإتاحة: https://doi.org/10.1016/j.bbabio.2016.02.022Test
http://hdl.handle.net/11577/3354191Test

المؤلفون: Kopajtich R., Nicholls T. J., Rorbach J., Metodiev M. D., Freisinger P., Mandel H., Vanlander A., Ghezzi D., Carrozzo R., Taylor R. W., Marquard K., Murayama K., Wieland T., Schwarzmayr T., Mayr J. A., Pearce S. F., Powell C. A., Saada A., Ohtake A., Invernizzi F., Lamantea E., Sommerville E. W., Pyle A., Chinnery P. F., Crushell E., Okazaki Y., Kohda M., Kishita Y., Tokuzawa Y., Assouline Z., Rio M., Feillet F., Mousson De Camaret B., Chretien D., Munnich A., Menten B., Sante T., Smet J., Regal L., Lorber A., Khoury A., Zeviani M., Strom T. M., Meitinger T., Bertini E. S., Van Coster R., Klopstock T., Rotig A., Haack T. B., Minczuk M., Prokisch H.

المساهمون: Kopajtich, R., Nicholls, T. J., Rorbach, J., Metodiev, M. D., Freisinger, P., Mandel, H., Vanlander, A., Ghezzi, D., Carrozzo, R., Taylor, R. W., Marquard, K., Murayama, K., Wieland, T., Schwarzmayr, T., Mayr, J. A., Pearce, S. F., Powell, C. A., Saada, A., Ohtake, A., Invernizzi, F., Lamantea, E., Sommerville, E. W., Pyle, A., Chinnery, P. F., Crushell, E., Okazaki, Y., Kohda, M., Kishita, Y., Tokuzawa, Y., Assouline, Z., Rio, M., Feillet, F., Mousson De Camaret, B., Chretien, D., Munnich, A., Menten, B., Sante, T., Smet, J., Regal, L., Lorber, A., Khoury, A., Zeviani, M., Strom, T. M., Meitinger, T., Bertini, E. S., Van Coster, R., Klopstock, T., Rotig, A., Haack, T. B., Minczuk, M., Prokisch, H.

مصطلحات موضوعية: Acidosis, Lactic, Amino Acid Sequence, Brain, Brain Disease, Cardiomyopathy, Hypertrophic, Cell Line, Child, Preschool, Consanguinity, Female, Fibroblast, GTP-Binding Protein, Human, Infant, Newborn, Male, Molecular Sequence Data, Mutation, Pedigree, Protein Biosynthesi, RNA Interference, RNA, Transfer, Sequence Alignment, Protein Processing, Post-Translational

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25434004; info:eu-repo/semantics/altIdentifier/wos/WOS:000346623100007; volume:95; issue:6; firstpage:708; lastpage:720; numberofpages:13; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3354208Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84919678076

الإتاحة: https://doi.org/10.1016/j.ajhg.2014.10.017Test
http://hdl.handle.net/11577/3354208Test

المؤلفون: Melchionda L., Haack T. B., Hardy S., Abbink T. E. M., Fernandez-Vizarra E., Lamantea E., Marchet S., Morandi L., Moggio M., Carrozzo R., Torraco A., Diodato D., Strom T. M., Meitinger T., Tekturk P., Yapici Z., Al-Murshedi F., Stevens R., Rodenburg R. J., Lamperti C., Ardissone A., Moroni I., Uziel G., Prokisch H., Taylor R. W., Bertini E., Van Der Knaap M. S., Ghezzi D., Zeviani M.

المساهمون: Melchionda, L., Haack, T. B., Hardy, S., Abbink, T. E. M., Fernandez-Vizarra, E., Lamantea, E., Marchet, S., Morandi, L., Moggio, M., Carrozzo, R., Torraco, A., Diodato, D., Strom, T. M., Meitinger, T., Tekturk, P., Yapici, Z., Al-Murshedi, F., Stevens, R., Rodenburg, R. J., Lamperti, C., Ardissone, A., Moroni, I., Uziel, G., Prokisch, H., Taylor, R. W., Bertini, E., Van Der Knaap, M. S., Ghezzi, D., Zeviani, M.

مصطلحات موضوعية: Adolescent, Adult, Apoptosis Regulatory Protein, Cells, Cultured, Child, Preschool, Cytochrome-c Oxidase Deficiency, Electron Transport Complex IV, Female, Fibroblast, Human, Infant, Leukoencephalopathie, Magnetic Resonance Imaging, Male, Mitochondria, Mitochondrial Protein, Mutation, Myoblasts

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25175347; info:eu-repo/semantics/altIdentifier/wos/WOS:000341404100008; volume:95; issue:3; firstpage:315; lastpage:325; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3354211Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84908254396

الإتاحة: https://doi.org/10.1016/j.ajhg.2014.08.003Test
http://hdl.handle.net/11577/3354211Test

المؤلفون: Baruffini E., Dallabona C., Invernizzi F., Yarham J. W., Melchionda L., Blakely E. L., Lamantea E., Donnini C., Santra S., Vijayaraghavan S., Roper H. P., Burlina A., Kopajtich R., Walther A., Strom T. M., Haack T. B., Prokisch H., Taylor R. W., Ferrero I., Zeviani M., Ghezzi D.

المساهمون: Baruffini, E., Dallabona, C., Invernizzi, F., Yarham, J. W., Melchionda, L., Blakely, E. L., Lamantea, E., Donnini, C., Santra, S., Vijayaraghavan, S., Roper, H. P., Burlina, A., Kopajtich, R., Walther, A., Strom, T. M., Haack, T. B., Prokisch, H., Taylor, R. W., Ferrero, I., Zeviani, M., Ghezzi, D.

مصطلحات موضوعية: Hypertrophic cardiomyopathy, Lactic acidosi, Mitochondrial disorder, MTO1, Yeast, Acidosis, Lactic, Adolescent, Age of Onset, Amino Acid Sequence, Brain, Cardiomyopathy, Hypertrophic, Carrier Protein, Child, Preschool, DNA Mutational Analysi, Electron Transport Chain Complex Protein, Female, Human, Infant, Newborn, Magnetic Resonance Imaging, Male, Models, Molecular, Molecular Sequence Data, Pedigree, Protein Conformation, Sequence Alignment

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23929671; info:eu-repo/semantics/altIdentifier/wos/WOS:000325426900009; volume:34; issue:11; firstpage:1501; lastpage:1509; numberofpages:9; journal:HUMAN MUTATION; http://hdl.handle.net/11577/3354223Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84885434357

الإتاحة: https://doi.org/10.1002/humu.22393Test
http://hdl.handle.net/11577/3354223Test

المؤلفون: Haack T. B., Danhauser K., Haberberger B., Hoser J., Strecker V., Boehm D., Uziel G., Lamantea E., Invernizzi F., Poulton J., Rolinski B., Iuso A., Biskup S., Schmidt T., Mewes H. -W., Wittig I., Meitinger T., Zeviani M., Prokisch H.

المساهمون: Haack, T. B., Danhauser, K., Haberberger, B., Hoser, J., Strecker, V., Boehm, D., Uziel, G., Lamantea, E., Invernizzi, F., Poulton, J., Rolinski, B., Iuso, A., Biskup, S., Schmidt, T., Mewes, H. -W., Wittig, I., Meitinger, T., Zeviani, M., Prokisch, H.

مصطلحات موضوعية: Acyl-CoA Dehydrogenase, Amino Acid Sequence, Cell Line, Child, Preschool, Electron Transport Complex I, Electrophoresis, Gel, Two-Dimensional, Exon, Female, Fibroblast, Genetic Complementation Test, Human, Infant, Male, Molecular Sequence Data, Mutation, Riboflavin, Transduction, Genetic, Sequence Analysis, DNA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21057504; info:eu-repo/semantics/altIdentifier/wos/WOS:000284578800018; volume:42; issue:12; firstpage:1131; lastpage:1134; numberofpages:4; journal:NATURE GENETICS; http://hdl.handle.net/11577/3354270Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-78649474742

الإتاحة: https://doi.org/10.1038/ng.706Test
http://hdl.handle.net/11577/3354270Test

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

المؤلفون: Bugiani M., Al Shahwan S., Lamantea E., Bizzi A., Bakhsh E., Moroni I., Balestrini M. R., Uziel G., Zeviani M.

المساهمون: Bugiani, M., Al Shahwan, S., Lamantea, E., Bizzi, A., Bakhsh, E., Moroni, I., Balestrini, M. R., Uziel, G., Zeviani, M.

مصطلحات موضوعية: Adolescent, Child, Preschool, Comorbidity, Dementia, Vascular, Female, Genetic Predisposition to Disease, Hereditary Central Nervous System Demyelinating Disease, Human, Internationality, Italy, Male, Pakistan, Pedigree, Pelizaeus-Merzbacher Disease, Risk Assessment, Risk Factor, Saudi Arabia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16707726; info:eu-repo/semantics/altIdentifier/wos/WOS:000239237600017; volume:67; issue:2; firstpage:273; lastpage:279; numberofpages:7; journal:NEUROLOGY; http://hdl.handle.net/11577/3354338Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33747039269

الإتاحة: https://doi.org/10.1212/01.wnl.0000223832.66286.e4Test
http://hdl.handle.net/11577/3354338Test

المؤلفون: Horvath R., Hudson G., Ferrari G., Futterer N., Ahola S., Lamantea E., Prokisch H., Lochmuller H., McFarland R., Ramesh V., Klopstock T., Freisinger P., Salvi F., Mayr J. A., Santer R., Tesarova M., Zeman J., Udd B., Taylor R. W., Turnbull D., Hanna M., Fialho D., Suomalainen A., Zeviani M., Chinnery P. F.

المساهمون: Horvath, R., Hudson, G., Ferrari, G., Futterer, N., Ahola, S., Lamantea, E., Prokisch, H., Lochmuller, H., Mcfarland, R., Ramesh, V., Klopstock, T., Freisinger, P., Salvi, F., Mayr, J. A., Santer, R., Tesarova, M., Zeman, J., Udd, B., Taylor, R. W., Turnbull, D., Hanna, M., Fialho, D., Suomalainen, A., Zeviani, M., Chinnery, P. F.

مصطلحات موضوعية: Alpers syndrome, Chronic progressive external ophthalmoplegia, Mitochondrial DNA, Mitochondrial encephalopathy, mtDNA, Polymerase gamma, Adolescent, Adult, Age of Onset, Child, Preschool, DNA Polymerase gamma, DNA, Mitochondrial, DNA-Directed DNA Polymerase, Diffuse Cerebral Sclerosis of Schilder, Female, Gene Frequency, Heredodegenerative Disorders, Nervous System, Human, Infant, Male, Middle Aged, Mitochondrial Disease, Mitochondrial Encephalomyopathie, Ophthalmoplegia, Chronic Progressive External, Phenotype, Sex Factor

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16621917; info:eu-repo/semantics/altIdentifier/wos/WOS:000238761200011; volume:129; issue:7; firstpage:1674; lastpage:1684; numberofpages:11; journal:BRAIN; http://hdl.handle.net/11577/3354342Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33745713884

الإتاحة: https://doi.org/10.1093/brain/awl088Test
http://hdl.handle.net/11577/3354342Test