المؤلفون: van Scherpenzeel, Monique, Conte, Federica, Büll, Christian, Ashikov, Angel, Hermans, Esther, Willems, Anke, van Tol, Walinka, Kragt, Else, Noga, Marek, Moret, Ed E., Heise, Torben, Langereis, Jeroen D., Rossing, Emiel, Zimmermann, Michael, Rubio-Gozalbo, M. Estela, de Jonge, Marien I., Adema, Gosse J., Zamboni, Nicola, id_orcid:0 000-0003-1271-1021, Boltje, Thomas, Lefeber, Dirk J.

المصدر: Glycobiology, 32 (3)

مصطلحات موضوعية: Fluoro sialic acid, glycosylation, metabolic oligosaccharide engineering, sugar metabolism, synthetic sugar analog

وصف الملف: application/application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/wos/000775226200007; http://hdl.handle.net/20.500.11850/525555Test

الإتاحة: https://doi.org/20.500.11850/525555Test
https://doi.org/10.3929/ethz-b-000525555Test
https://doi.org/10.1093/glycob/cwab106Test
https://hdl.handle.net/20.500.11850/525555Test

المؤلفون: van Scherpenzeel, Monique, Conte, Federica, Büll, Christian, Ashikov, Angel, Hermans, Esther, Willems, Anke, van Tol, Walinka, Kragt, Else, Noga, Marek, Moret, Ed E, Heise, Torben, Langereis, Jeroen D, Rossing, Emiel, Zimmermann, Michael, Rubio-Gozalbo, M Estela, de Jonge, Marien I, Adema, Gosse J, Zamboni, Nicola, Boltje, Thomas, Lefeber, Dirk J

المساهمون: Horizon 2020, Prinses Beatrix Spierfonds

المصدر: Glycobiology ; volume 32, issue 3, page 239-250 ; ISSN 1460-2423

الإتاحة: https://doi.org/10.1093/glycob/cwab106Test
https://academic.oup.com/glycob/article-pdf/32/3/239/43151775/cwab106.pdfTest

المؤلفون: van Tol, Walinka, Michelakakis, Helen, Georgiadou, Elissavet, Van den Bergh, Peter, Moraitou, Marina, Papadimas, George K, Papadopoulos, Constantinos, Huijben, Karin, Alsady, Mohammad, Willemsen, Michèl A, Lefeber, Dirk J

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie

المصدر: Journal of inherited metabolic disease, Vol. 42, no. 5, p. 984-992 (2019)

مصطلحات موضوعية: DPM3-CDG, congenital disorders of glycosylation, dolichol-phosphate-mannose, dystroglycanopathy, tissue-specific glycosylation

العلاقة: boreal:221314; http://hdl.handle.net/2078.1/221314Test; info:pmid/30931530; urn:ISSN:0141-8955; urn:EISSN:1573-2665

الإتاحة: https://doi.org/10.1002/jimd.12095Test
http://hdl.handle.net/2078.1/221314Test

المؤلفون: van Tol, Walinka, van Scherpenzeel, Monique, Alsady, Mohammad, Riemersma, Moniek, Hermans, Esther, Kragt, Else, Tasca, Giorgio, Kamsteeg, Erik-Jan, Pennings, Maartje, van Beusekom, Ellen, Vermeulen, Jeroen R., van Bokhoven, Hans, Voermans, Nicol C., Willemsen, Michel A., Ashikov, Angel, Lefeber, Dirk J.

المصدر: van Tol , W , van Scherpenzeel , M , Alsady , M , Riemersma , M , Hermans , E , Kragt , E , Tasca , G , Kamsteeg , E-J , Pennings , M , van Beusekom , E , Vermeulen , J R , van Bokhoven , H , Voermans , N C , Willemsen , M A , Ashikov , A & Lefeber , D J 2019 , ' Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy ' , Clinical Chemistry , vol. 65 , no. 10 ....

مصطلحات موضوعية: ALPHA-DYSTROGLYCAN, POSTTRANSLATIONAL MODIFICATION, DEFECTIVE GLYCOSYLATION, GLYCOPROTEIN COMPLEX, D-RIBOSE, ISPD, MUTATIONS, FKRP, METABOLISM, THERAPY

الإتاحة: https://doi.org/10.1373/clinchem.2019.305391Test
https://cris.maastrichtuniversity.nl/en/publications/c6bd5d9e-c81c-42ac-b47f-10635bf14a29Test

المؤلفون: van Tol, Walinka, Ashikov, Angel, Korsch, Eckhard, Abu Bakar, Nurulamin, Willemsen, Michèl A., Thiel, Christian, Lefeber, Dirk J.

المساهمون: Deutsche Forschungsgemeinschaft, Horizon 2020 Framework Programme, Nederlandse Organisatie voor Wetenschappelijk Onderzoek, Prinses Beatrix Spierfonds

المصدر: JIMD Reports ; volume 50, issue 1, page 31-39 ; ISSN 2192-8312 2192-8312

الإتاحة: https://doi.org/10.1002/jmd2.12060Test

المؤلفون: van Tol, Walinka, Wessels, Hans, Lefeber, Dirk J

المساهمون: Netherlands Organization for Scientific Research, Prinses Beatrix Spierfonds

المصدر: Current Opinion in Structural Biology ; volume 56, page 107-118 ; ISSN 0959-440X

مصطلحات موضوعية: Molecular Biology, Structural Biology

الإتاحة: https://doi.org/10.1016/j.sbi.2018.12.006Test
https://api.elsevier.com/content/article/PII:S0959440X1830112X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0959440X1830112X?httpAccept=text/plainTest

المؤلفون: van Scherpenzeel, Monique, Conte, Federica, Büll, Christian, Ashikov, Angel, Hermans, Esther, Willems, Anke, van Tol, Walinka, Kragt, Else, Moret, Ed E., Heise, Torben, Langereis, Jeroen D., Rossing, Emiel, Zimmermann, Michael, Rubio-Gozalbo, M. Estela, de Jonge, Marien I., Adema, Gosse J., Zamboni, Nicola, id_orcid:0 000-0003-1271-1021, Boltje, Thomas, Lefeber, Dirk J.

المصدر: bioRxiv

مصطلحات موضوعية: Glycosylation, Metabolism, Metabolic oligosaccharide engineering, Sialic acid, Synthetic sugar analog

وصف الملف: application/application/pdf

العلاقة: http://hdl.handle.net/20.500.11850/525491Test

الإتاحة: https://doi.org/20.500.11850/525491Test
https://doi.org/10.3929/ethz-b-000525491Test
https://doi.org/10.1101/2020.09.15.288712Test
https://hdl.handle.net/20.500.11850/525491Test

المؤلفون: Van den Bergh, Peter, Sznajer, Yves, Van Parijs, Vinciane, van Tol, Walinka, Wevers, Ron Allan, Lefeber, Dirk J, Xu, Liwen, Lek, Monkol, MacArthur, Daniel G, Johnson, Katherine, Phillips, Lauren, Töpf, Ana, Straub, Volker

المساهمون: UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de neurologie

المصدر: Neuromuscular Disorders, Vol. 28, no. 1, p. 101 (2018)

العلاقة: boreal:199097; http://hdl.handle.net/2078.1/199097Test; info:pmid/29246662; urn:ISSN:0960-8966; urn:EISSN:1873-2364

الإتاحة: https://doi.org/10.1016/j.nmd.2017.11.012Test
http://hdl.handle.net/2078.1/199097Test

المؤلفون: Van den Bergh, Peter, Sznajer, Yves, Van Parijs, Vinciane, van Tol, Walinka, Wevers, Ron Allan, Lefeber, Dirk J, Xu, Liwen, Lek, Monkol, MacArthur, Daniel G, Johnson, Katherine, Phillips, Lauren, Töpf, Ana, Straub, Volker

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL

المصدر: Neuromuscular Disorders, Vol. 27, no. 11, p. 1043-1046 (2017)

مصطلحات موضوعية: Alpha-dystroglycan, DPM3, Dolichol-P-mannose synthase, Limb girdle muscular dystrophy

العلاقة: boreal:199102; http://hdl.handle.net/2078.1/199102Test; info:pmid/28803818; urn:ISSN:0960-8966; urn:EISSN:1873-2364

الإتاحة: https://doi.org/10.1016/j.nmd.2017.07.006Test
http://hdl.handle.net/2078.1/199102Test

المؤلفون: Riemersma, Moniek, Froese, D. Sean, van Tol, Walinka, Engelke, Udo F., Kopec, Jolanta, van Scherpenzeel, Monique, Ashikov, Angel, Krojer, Tobias, von Delft, Frank, Tessari, Marco, Buczkowska, Anna, Swiezewska, Ewa, Jae, Lucas T., Brummelkamp, Thijn R., Manya, Hiroshi, Endo, Tamao, van Bokhoven, Hans, Yue, Wyatt W., Lefeber, Dirk J.

المصدر: Riemersma , M , Froese , D S , van Tol , W , Engelke , U F , Kopec , J , van Scherpenzeel , M , Ashikov , A , Krojer , T , von Delft , F , Tessari , M , Buczkowska , A , Swiezewska , E , Jae , L T , Brummelkamp , T R , Manya , H , Endo , T , van Bokhoven , H , Yue , W W & Lefeber , D J 2015 , ' Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation ' , ....

الإتاحة: https://doi.org/10.1016/j.chembiol.2015.10.014Test
https://cris.maastrichtuniversity.nl/en/publications/14a2abac-66c8-4c76-9c48-e3debc57a7b6Test