Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Moniek Riemersma"'
Autor:
Reza Maroofian, Moniek Riemersma, Lucas T. Jae, Narges Zhianabed, Marjolein H. Willemsen, Willemijn M. Wissink-Lindhout, Michèl A. Willemsen, Arjan P. M. de Brouwer, Mohammad Yahya Vahidi Mehrjardi, Mahmoud Reza Ashrafi, Benno Kusters, Tjitske Kleefstra, Yalda Jamshidi, Mojila Nasseri, Rolph Pfundt, Thijn R. Brummelkamp, Mohammad Reza Abbaszadegan, Dirk J. Lefeber, Hans van Bokhoven
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-11 (2017)
Abstract Background The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to m
Externí odkaz:
https://doaj.org/article/9adc7417292e4798a0ee0866d8eaaebd
Autor:
Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Mutations in proteins that localize to primary cilia cause devastating diseases, yet the primary cilium is a poorly understood organelle. Here the authors use interaction proteomics to identify a network of human ciliary proteins that provides new in
Externí odkaz:
https://doaj.org/article/22bd7d5adfdc431187d2dc80408e8af0
Autor:
Dirk J Lefeber, Arjan P M de Brouwer, Eva Morava, Moniek Riemersma, Janneke H M Schuurs-Hoeijmakers, Birgit Absmanner, Kiek Verrijp, Willem M R van den Akker, Karin Huijben, Gerry Steenbergen, Jeroen van Reeuwijk, Adam Jozwiak, Nili Zucker, Avraham Lorber, Martin Lammens, Carlos Knopf, Hans van Bokhoven, Stephanie Grünewald, Ludwig Lehle, Livia Kapusta, Hanna Mandel, Ron A Wevers
Publikováno v:
PLoS Genetics, Vol 7, Iss 12, p e1002427 (2011)
Genetic causes for autosomal recessive forms of dilated cardiomyopathy (DCM) are only rarely identified, although they are thought to contribute considerably to sudden cardiac death and heart failure, especially in young children. Here, we describe 1
Externí odkaz:
https://doaj.org/article/bb2cc49db65247d0babb9ce38d7ed980
Autor:
Gajja S. Salomons, Arthur van den Wijngaard, Jan F. C. Glatz, Ingrid P.C. Krapels, Jörgen Bierau, Appolonia T J M Helderman-van den Enden, Mark R. Hazebroek, Liesbeth van der Ploeg, Sacha Ferdinandusse, Stephane Heymans, Moniek Riemersma, Han G. Brunner, Martijn C. G. J. Brouwers
Publikováno v:
European journal of human genetics, 25(11), 1195-1201. Nature Publishing Group
European Journal of Human Genetics, 25(11), 1195-1201. Nature Publishing Group
European Journal of Human Genetics, 25, 11, pp. 1195-1201
Riemersma, M, Hazebroek, M R, Helderman-Van Den Enden, A T J M, Salomons, G S, Ferdinandusse, S, Brouwers, M C G J, Van Der Ploeg, L, Heymans, S, Glatz, J F C, Van Den Wijngaard, A, Krapels, I P C, Bierau, J & Brunner, H G 2017, ' Propionic acidemia as a cause of adult-onset dilated cardiomyopathy ', European Journal of Human Genetics, vol. 25, no. 11, pp. 1195-1201 . https://doi.org/10.1038/ejhg.2017.127
European Journal of Human Genetics, 25, 1195-1201
European Journal of Human Genetics, 25(11), 1195-1201. Nature Publishing Group
European Journal of Human Genetics, 25, 11, pp. 1195-1201
Riemersma, M, Hazebroek, M R, Helderman-Van Den Enden, A T J M, Salomons, G S, Ferdinandusse, S, Brouwers, M C G J, Van Der Ploeg, L, Heymans, S, Glatz, J F C, Van Den Wijngaard, A, Krapels, I P C, Bierau, J & Brunner, H G 2017, ' Propionic acidemia as a cause of adult-onset dilated cardiomyopathy ', European Journal of Human Genetics, vol. 25, no. 11, pp. 1195-1201 . https://doi.org/10.1038/ejhg.2017.127
European Journal of Human Genetics, 25, 1195-1201
Contains fulltext : 182645.pdf (Publisher’s version ) (Open Access) Dilated cardiomyopathy (DCM) is extremely heterogeneous with a large proportion due to dominantly inherited disease-causing variants in sarcomeric genes. Recessive metabolic diseas
Autor:
Moniek Riemersma, Dirk Lefeber, Erik-Jan Kamsteeg, Else Kragt, Nicol C. Voermans, Michèl A.A.P. Willemsen, Monique van Scherpenzeel, Ellen van Beusekom, Esther Hermans, Jeroen R Vermeulen, Maartje Pennings, Mohammad Alsady, Walinka van Tol, Angel Ashikov, Giorgio Tasca, Hans van Bokhoven
Publikováno v:
Clinical Chemistry, 65, 1295-1306
Clinical Chemistry, 65, 10, pp. 1295-1306
Clinical Chemistry, 65(10), 1295-1306. American Association for Clinical Chemistry
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, pp. 1295-1306 . https://doi.org/10.1373/clinchem.2019.305391
Clinical Chemistry, 65(10), 1295-1306
Clinical Chemistry, 65, 10, pp. 1295-1306
Clinical Chemistry, 65(10), 1295-1306. American Association for Clinical Chemistry
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, pp. 1295-1306 . https://doi.org/10.1373/clinchem.2019.305391
Clinical Chemistry, 65(10), 1295-1306
BACKGROUND Many muscular dystrophies currently remain untreatable. Recently, dietary ribitol has been suggested as a treatment for cytidine diphosphate (CDP)-l-ribitol pyrophosphorylase A (CRPPA, ISPD), fukutin (FKTN), and fukutin-related protein (FK
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b58a2aa442de4665c45625986e6e0416
http://hdl.handle.net/2066/208790
http://hdl.handle.net/2066/208790
Autor:
Wyatt W. Yue, Hans van Bokhoven, Walinka van Tol, Moniek Riemersma, Jolanta Kopec, D. Sean Froese, Hiroshi Manya, Ewa Swiezewska, Dirk Lefeber, Thijn R. Brummelkamp, T. Krojer, Monique van Scherpenzeel, Lucas T. Jae, Angel Ashikov, Frank von Delft, Tamao Endo, Anna Buczkowska, Udo F. H. Engelke, Marco Tessari
Publikováno v:
Chemistry & Biology, 22, 12, pp. 1643-52
Chemistry & Biology, 22, 1643-52
Chemistry & Biology, 22(12), 1643-1652. Elsevier Inc.
Chemistry & Biology, 22, 1643-52
Chemistry & Biology, 22(12), 1643-1652. Elsevier Inc.
Contains fulltext : 152310.pdf (Publisher’s version ) (Closed access) A unique, unsolved O-mannosyl glycan on alpha-dystroglycan is essential for its interaction with protein ligands in the extracellular matrix. Defective O-mannosylation leads to a
Autor:
Tjitske Kleefstra, Michèl A.A.P. Willemsen, Dirk Lefeber, Willemijn M. Wissink-Lindhout, Yalda Jamshidi, Mohammad Reza Abbaszadegan, Lucas T. Jae, Marjolein H. Willemsen, Narges Zhianabed, Moniek Riemersma, Arjan P.M. de Brouwer, Mojila Nasseri, Rolph Pfundt, Benno Küsters, Hans van Bokhoven, Thijn Reinout Brummelkamp, Mahmoud Reza Ashrafi, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi
Publikováno v:
Genome Medicine, 9:118. BioMed Central Ltd
Genome Medicine
Genome Medicine, Vol 9, Iss 1, Pp 1-11 (2017)
Genome Medicine, 9, 1, pp. 118
Genome Medicine, 9, 118
Genome Medicine
Genome Medicine, Vol 9, Iss 1, Pp 1-11 (2017)
Genome Medicine, 9, 1, pp. 118
Genome Medicine, 9, 118
Background: The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to mild, lat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c5ff1012b8d77488ba092420cabc2d7
https://cris.maastrichtuniversity.nl/en/publications/b2bd44ef-3164-443b-ab57-93a5a826c23d
https://cris.maastrichtuniversity.nl/en/publications/b2bd44ef-3164-443b-ab57-93a5a826c23d
Autor:
Moniek Riemersma, Gosse J. Adema, Danielle M. H. Beurskens, Dirk Lefeber, Toin H. van Kuppevelt, Martijn H. den Brok, Thomas J. Boltje, Angel Ashikov, Christian Büll, Floris P. J. T. Rutjes, Torben Heise
Publikováno v:
Acs Chemical Biology, 10, 10, pp. 2353-2363
Acs Chemical Biology, 10, 2353-2363
ACS Chemical Biology, 10(10), 2353-2363. American Chemical Society
Acs Chemical Biology, 10, 2353-2363
ACS Chemical Biology, 10(10), 2353-2363. American Chemical Society
Contains fulltext : 152725.pdf (Publisher’s version ) (Open Access) Sialoglycans play a vital role in physiology, and aberrant sialoglycan expression is associated with a broad spectrum of diseases. Since biosynthesis of sialoglycans is only partia
Autor:
Moniek Riemersma, Shmuel Pietrokovski, Hans van Bokhoven, Tony Roscioli, Ayelet Eran, Isabella Gazzoli, Dirk Lefeber, Ron A. Wevers, Ruth Gershoni-Baruch, Ellen van Beusekom, Lisenka E.L.M. Vissers, Michèl A.A.P. Willemsen, Hanna Mandel, Moran Gershoni
Publikováno v:
Neurology. 84:2177-2182
Objective: To identify the underlying genetic defect in 5 patients from a consanguineous family with a Walker-Warburg phenotype, together with intracranial calcifications. Methods: Homozygosity mapping and exome sequencing, followed by Sanger sequenc
Publikováno v:
Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6406355e2442fe26e10ba5b570160d34
https://doi.org/10.1093/med/9780199934522.003.0206
https://doi.org/10.1093/med/9780199934522.003.0206