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2دورية أكاديمية
المؤلفون: Lazarov, Elinor, Hillebrand, Merle, Schröder, Simone, Ternka, Katharina, Hofhuis, Julia, Ohlenbusch, Andreas, Barrantes-Freer, Alonso, Pardo, Luis A., Fruergaard, Marlene U., Nissen, Poul, Brockmann, Knut, Gärtner, Jutta, Rosewich, Hendrik
المصدر: Lazarov , E , Hillebrand , M , Schröder , S , Ternka , K , Hofhuis , J , Ohlenbusch , A , Barrantes-Freer , A , Pardo , L A , Fruergaard , M U , Nissen , P , Brockmann , K , Gärtner , J & Rosewich , H 2020 , ' Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity ' , Neurobiology of Disease , vol. 143 , 105012 . https://doi.org/10.1016/j.nbd.2020.105012Test
مصطلحات موضوعية: AHC, Alternating hemiplegia of childhood, ATP1A3, Movement disorder, Na/K-ATPase alpha 3 subunit, P-type ATPase, Parkinsonism, Rapid-onset dystonia-parkinsonism, RDP, Na+/K+-ATPase alpha 3 subunit, K+-ATPASE, CRYSTAL-STRUCTURE, NA,K-ATPASE, INTRACELLULAR NA+, CELL-DEATH, NA+,K+-ATPASE ACTIVITY, DE-NOVO MUTATIONS, SODIUM-PUMP, AFFINITY, ALPHA-3 ISOFORM
الإتاحة: https://doi.org/10.1016/j.nbd.2020.105012Test
https://pure.au.dk/portal/en/publications/37a8ec88-558e-43ec-a088-9224e4cac370Test
http://www.scopus.com/inward/record.url?scp=85087942220&partnerID=8YFLogxKTest -
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المؤلفون: Hillebrand, Merle
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4دورية أكاديمية
العلاقة: https://resolver.sub.uni-goettingen.de/purl?gro-2/6598Test; 000324463900001; 3142286; https://resolver.sub.uni-goettingen.de/purl?gs-1/9340Test
الإتاحة: https://doi.org/10.1186/1866-1955-5-23Test
https://resolver.sub.uni-goettingen.de/purl?gro-2/6598Test
https://resolver.sub.uni-goettingen.de/purl?gs-1/9340Test -
5دورية أكاديمية
المؤلفون: Hillebrand, Merle, Gersting, Søren W., Lotz-Havla, Amelie S., Schäfer, Annika, Rosewich, Hendrik, Valerius, Oliver, Muntau, Ania C., Gärtner, Jutta
المصدر: Journal of Biological Chemistry ; volume 287, issue 1, page 210-221 ; ISSN 0021-9258
مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry
الإتاحة: https://doi.org/10.1074/jbc.m111.272732Test
https://api.elsevier.com/content/article/PII:S0021925820535060?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0021925820535060?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: Huppke, Peter, Brendel, Cornelia, Kalscheuer, Vera, Korenke, Georg Christoph, Marquardt, Iris, Freisinger, Peter, Christodoulou, John, Hillebrand, Merle, Pitelet, Gaele, Wilson, Callum, Gruber-Sedlmayr, Ursula, Ullmann, Reinhard, Haas, Stefan, Elpeleg, Orly, Nürnberg, Gudrun, Nürnberg, Peter, Dad, Shzeena, Birk Møller, Lisbeth, Kaler, Stephen G., Gärtner, Jutta
المصدر: The American Journal of Human Genetics ; volume 90, issue 2, page 378 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2012.01.015Test
https://api.elsevier.com/content/article/PII:S0002929712000493?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929712000493?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Hillebrand, Merle, Verrier, Sophie E., Ohlenbusch, Andreas, Schäfer, Annika, Söling, Hans-Dieter, Wouters, Fred S., Gärtner, Jutta
المصدر: Journal of Biological Chemistry ; volume 282, issue 37, page 26997-27005 ; ISSN 0021-9258
مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry
الإتاحة: https://doi.org/10.1074/jbc.m702122200Test
https://api.elsevier.com/content/article/PII:S0021925820587711?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0021925820587711?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Steinfeld, Robert, Reinhardt, Konstanze, Schreiber, Kathrin, Hillebrand, Merle, Kraetzner, Ralph, Brück, Wolfgang, Saftig, Paul, Gärtner, Jutta
المصدر: The American Journal of Human Genetics ; volume 78, issue 6, page 988-998 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1086/504159Test
https://api.elsevier.com/content/article/PII:S0002929707639202?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929707639202?httpAccept=text/plainTest -
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المؤلفون: Hillebrand, Merle
المساهمون: Prof. Dr. H. P. Elsässer
مصطلحات موضوعية: Proteoglykane, Serglycin, Zymogene, Medizin, Zymogenes, Glykosaminoglykane, Proteinsortierung, Granulum
, Medical sciences, Medicine, Proteoglycans, Protein Sorting, ddc:610, Medical sciences Medicine, Medizin, Gesundheit الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42fa314f33434bcf80018caba9714f16Test
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المساهمون: Hillebrand, Merle