المؤلفون: Kayvanpour, Elham, Wisdom, Michael, Lackner, Maximilian K., Sedaghat-Hamedani, Farbod, Boeckel, Jes-Niels, Müller, Marion, Eghbalian, Rose, Dudek, Jan, Doroudgar, Shirin, Maack, Christoph, Frey, Norbert, Meder, Benjamin

مصطلحات موضوعية: VARS2, heart failure, integrated stress response, mitochondrial FAO, info:eu-repo/classification/ddc/610, ddc:610

العلاقة: 7327

الإتاحة: https://ul.qucosa.de/id/qucosa%3A89636Test
https://ul.qucosa.de/api/qucosa%3A89636/attachment/ATT-0Test/

المؤلفون: Elham Kayvanpour, Michael Wisdom, Maximilian K. Lackner, Farbod Sedaghat-Hamedani, Jes-Niels Boeckel, Marion Müller, Rose Eghbalian, Jan Dudek, Shirin Doroudgar, Christoph Maack, Norbert Frey, Benjamin Meder

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 13; Pages: 7327

مصطلحات موضوعية: VARS2, heart failure, integrated stress response, mitochondrial FAO

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms23137327Test

الإتاحة: https://doi.org/10.3390/ijms23137327Test

المؤلفون: Lucija Ruzman, Ivana Kolic, Jelena Radic Nisevic, Antonija Ruzic Barsic, Ingrid Skarpa Prpic, Igor Prpic

المصدر: Upsala Journal of Medical Sciences, Vol 124, Iss 4, Pp 273-277 (2019)

مصطلحات موضوعية: encephalocardiomyopathy, epileptic encephalopathy, mitochondrial disease, vars2, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/0300-9734Test; https://doaj.org/toc/2000-1967Test

الوصول الحر: https://doaj.org/article/41b2b4f82f384be581de0f99110d3eceTest

المؤلفون: Katarína Kušíková, René Günther Feichtinger, Bernhard Csillag, Ognian Kostadinov Kalev, Serge Weis, Hans-Christoph Duba, Johannes Adalbert Mayr, Denisa Weis

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: VARS2 gene, oxidative phosphorylation, mitochondriopathy, hyperlactatemia, lethal hypertrophic cardiomyopathy, pulmonary hypertension, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2021.660076/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/09d82289bff1482faa7925d93a31400dTest

المؤلفون: Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta, Stefano Sotgiu

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)

مصطلحات موضوعية: Mitochondrial disorder, Epileptic encephalopathy, Developmental delay, VARS2, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12881-019-0798-7Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/c7cb410551784920ae3f64d7008211dcTest

المؤلفون: Keze Ma, Mingyu Xie, Xiaoguang He, Guojun Liu, Xiaomei Lu, Qi Peng, Baimao Zhong, Ning Li

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Mitochondrial disorders, Cardiomyopathy, VARS2, Neonate, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12881-018-0689-3Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/5d1217731d4947a4924f3f0108508ab9Test

المؤلفون: Ružman, Lucija, Kolić, Ivana, Radić Nišević, Jelena, Ružić Baršic, Antonija, Škarpa Prpic, Ingrid, Prpić, Igor

المصدر: https://www.tandfonline.com/doi/full/10.1080/03009734.2019.1670297Test ; Upsala Journal of Medical Sciences ; ISSN 0300-9734 (Print) ; ISSN 2000-1967 (Online.

مصطلحات موضوعية: BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti. Pedijatrija, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences. Pediatrics, Encephalocardiomyopathy, epileptic encephalopathy, mitochondrial disease, VARS2

وصف الملف: application/pdf

العلاقة: Sveučilište u Rijeci. Medicinski fakultet. Katedra za pedijatriju.; University of Rijeka. Faculty of Medicine. Department of Pediatrics.; https://www.unirepository.svkri.uniri.hr/islandora/object/medri:3148Test; https://urn.nsk.hr/urn:nbn:hr:184:272287Test; https://www.unirepository.svkri.uniri.hr/islandora/object/medri:3148/datastream/FILE0Test

الإتاحة: https://doi.org/10.1080/03009734.2019.1670297Test
https://www.unirepository.svkri.uniri.hr/islandora/object/medri:3148Test
https://urn.nsk.hr/urn:nbn:hr:184:272287Test
https://www.unirepository.svkri.uniri.hr/islandora/object/medri:3148/datastream/FILE0Test

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

الإتاحة: https://doi.org/10.1002/humu.23398Test
http://hdl.handle.net/2434/552120Test

المؤلفون: Bruni, F., Meo, I.D., Bellacchio, E., Webb, B.D., McFarland, R., Chrzanowska-Lightowlers, Z.M.A., He, L., Skorupa, E., Moroni, I., Ardissone, A., Walczak, A., Tyynismaa, H., Isohanni, P., Mandel, H., Prokisch, H., Haack, T.B., Bonnen, P.E., Enrico, B., Pronicka, E., Ghezzi, D., Taylor, R.W., Diodato, D.

المصدر: Hum. Mutat. 39, 563-578 (2018)

مصطلحات موضوعية: Cardioencephalomyopathy, Mitochondrial Disorders, Oxphos, Vars2

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29314548; info:eu-repo/semantics/altIdentifier/wos/WOS:000426727800009; info:eu-repo/semantics/altIdentifier/isbn/1059-7794; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52701Test; urn:isbn:1059-7794; urn:issn:1059-7794; urn:issn:1098-1004

الإتاحة: https://doi.org/10.1002/humu.23398Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52701Test

المؤلفون: Baertling, F., Alhaddad, B., Seibt, A., Budaeus, S., Meitinger, T., Strom, T.M., Mayatepek, E., Schaper, J., Prokisch, H., Haack, T.B., Distelmaier, F.

المصدر: Metab. Brain Dis. 32, 267-270 (2017)

مصطلحات موضوعية: VARS2, OXPHOS, Mitochondrial disease, Cardiomyopathy, Aminoacyl tRNA synthtetas

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27502409; info:eu-repo/semantics/altIdentifier/wos/WOS:000392388900028; info:eu-repo/semantics/altIdentifier/isbn/0885-7490; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49284Test; urn:isbn:0885-7490; urn:issn:0885-7490; urn:issn:1573-7365

الإتاحة: https://doi.org/10.1007/s11011-016-9890-2Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49284Test