المؤلفون: Orthmann-Murphy J. L., Salsano E., Abrams C. K., Bizzi A., Uziel G., Freidin M. M., Lamantea E., Zeviani M., Scherer S. S., Pareyson D.

المساهمون: Orthmann-Murphy, J. L., Salsano, E., Abrams, C. K., Bizzi, A., Uziel, G., Freidin, M. M., Lamantea, E., Zeviani, M., Scherer, S. S., Pareyson, D.

مصطلحات موضوعية: Connexin, Gap junction, Oligodendrocyte, Pelizaeus-Merzbacher-like disease, Spastic paraplegia, Adult, Brain, Connexin 43, Evoked Potential, Female, HeLa Cell, Human, Magnetic Resonance Imaging, Male, Microscopy, Fluorescence, Middle Aged, Patch-Clamp Technique, Pedigree, Phenotype, Hereditary, Mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19056803; info:eu-repo/semantics/altIdentifier/wos/WOS:000263407700016; volume:132; issue:2; firstpage:426; lastpage:438; numberofpages:13; journal:BRAIN; http://hdl.handle.net/11577/3354303Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-60149110304

الإتاحة: https://doi.org/10.1093/brain/awn328Test
http://hdl.handle.net/11577/3354303Test

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, GYFTODIMOU Y, TSIMPOUKA P, LAMANTEA E, KATZAKI E, NAKOU S, GEORGOUDI N, GRIGORIADOU M, TSINA E, KABOLIS N, MILANI D, PANDELIA E, KOKOTAS H, GIANNOULIA KARANTANA A, RENIERI A, ZEVIANI M, PETERSEN MB, D'ADAMO, ADAMO PIO, GASPARINI, PAOLO

المساهمون: Bugiani, M, Gyftodimou, Y, Tsimpouka, P, Lamantea, E, Katzaki, E, D'Adamo, ADAMO PIO, Nakou, S, Georgoudi, N, Grigoriadou, M, Tsina, E, Kabolis, N, Milani, D, Pandelia, E, Kokotas, H, Gasparini, Paolo, GIANNOULIA KARANTANA, A, Renieri, A, Zeviani, M, Petersen, Mb

مصطلحات موضوعية: Abnormalitie, Multiple, Multiple: genetic, Adolescent, Adult, Child, Cohort Studie, Consanguinity, DNA Mutational Analysi, Developmental Disabilitie, Developmental Disabilities: genetic, Face, Face: abnormalitie, Female, Gene Deletion, Geography, Greece, Human, Male, Mental Retardation, Mental Retardation: genetic, Microcephaly, Microcephaly: genetic, Middle Aged, Myopia, Myopia: genetic, Pedigree, Syndrome, Vesicular Transport Protein, Vesicular Transport Proteins: genetics

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/18655112; info:eu-repo/semantics/altIdentifier/wos/WOS:000259128900005; volume:146A; firstpage:2221; lastpage:2226; numberofpages:6; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11368/2489154Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-51449102096; http://www.ncbi.nlm.nih.gov/pubmed/18655112Test

الإتاحة: https://doi.org/10.1002/ajmg.a.32239Test
http://hdl.handle.net/11368/2489154Test
http://www.ncbi.nlm.nih.gov/pubmed/18655112Test

المؤلفون: GALASSI G, LAMANTEA E, INVERNIZZI F, TAVANI F, PISANO I, PALMIERI L, ZEVIANI M., FERRERO FORTUNATI, Iliana

المساهمون: Galassi, G, Lamantea, E, Invernizzi, F, Tavani, F, Pisano, I, FERRERO FORTUNATI, Iliana, Palmieri, L, Zeviani, M.

العلاقة: volume:18; firstpage:465; lastpage:470; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11381/1843760Test

الإتاحة: http://hdl.handle.net/11381/1843760Test

المؤلفون: Galassi G., Lamantea E., Invernizzi F., Tavani F., Pisano I., Ferrero I., Palmieri L., Zeviani M.

المساهمون: Galassi, G., Lamantea, E., Invernizzi, F., Tavani, F., Pisano, I., Ferrero, I., Palmieri, L., Zeviani, M.

مصطلحات موضوعية: ANT1, Mitochondrial DNA, mtDNA multiple deletion, POLG1, Progressive external ophthalmoplegia, Sensory-cerebellar ataxia, Adenine Nucleotide Translocator 1, Adenosine Triphosphate, Adult, DNA Mutational Analysi, DNA Polymerase gamma, DNA-Directed DNA Polymerase, Female, Human, Magnetic Resonance Imaging, Methionine, Mitochondrial Encephalomyopathie, Molecular Sequence Data, Mutation, Time Factor, Valine

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/18504126; info:eu-repo/semantics/altIdentifier/wos/WOS:000258023000006; volume:18; issue:6; firstpage:465; lastpage:470; numberofpages:6; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11577/3354313Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-45449120033

الإتاحة: https://doi.org/10.1016/j.nmd.2008.03.013Test
http://hdl.handle.net/11577/3354313Test

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

المؤلفون: Bugiani M., Lamantea E., Invernizzi F., Moroni I., Bizzi A., Zeviani M., Uziel G.

المساهمون: Bugiani, M., Lamantea, E., Invernizzi, F., Moroni, I., Bizzi, A., Zeviani, M., Uziel, G.

مصطلحات موضوعية: Complex II deficiency, Leukoencephalopathy, Mitochondrial disorder, Riboflavin, Blotting, Western, Child, Disability Evaluation, Electron Transport Complex II, Female, Fibroblast, Human, Iron-Sulfur Protein, Magnetic Resonance Imaging, Male, Mitochondrial Disease, Muscle, Succinate Dehydrogenase, Vitamin B Complex

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16737791; info:eu-repo/semantics/altIdentifier/wos/WOS:000241226600006; volume:28; issue:9; firstpage:576; lastpage:581; numberofpages:6; journal:BRAIN & DEVELOPMENT; http://hdl.handle.net/11577/3354337Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33747879021

الإتاحة: https://doi.org/10.1016/j.braindev.2006.04.001Test
http://hdl.handle.net/11577/3354337Test

المؤلفون: ZEVIANI M, TIRANTI V, MUNARO M, LAMANTEA E, DIDONATO S, BISSON R., SANDONA', DORIANNA

المساهمون: Zeviani, M, Tiranti, V, Munaro, M, Sandona', Dorianna, Lamantea, E, Didonato, S, Bisson, R.

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:A1995RW68701058; volume:57; firstpage:1058; lastpage:1058; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/145076Test

الإتاحة: http://hdl.handle.net/11577/145076Test

المؤلفون: Corrini L, Savasta S, Lamantea E, Uziel G

المساهمون: Corrini, L, Savasta, S, Lamantea, E, Uziel, G

العلاقة: ispartofbook:Atti I° Congresso Società Italiana di Neonatologia; I° Congresso Società Italiana di Neonatologia; numberofpages:1; https://hdl.handle.net/11584/350825Test

الإتاحة: https://hdl.handle.net/11584/350825Test