Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Jo Vanoevelen"'
Autor:
Tom E. J. Theunissen, Minh Nguyen, Rick Kamps, Alexandra T. Hendrickx, Suzanne C. E. H. Sallevelt, Ralph W. H. Gottschalk, Chantal M. Calis, Alphons P. M. Stassen, Bart de Koning, Elvira N. M. Mulder-Den Hartog, Kees Schoonderwoerd, Sabine A. Fuchs, Yvonne Hilhorst-Hofstee, Marianne de Visser, Jo Vanoevelen, Radek Szklarczyk, Mike Gerards, Irenaeus F. M. de Coo, Debby M. E. I. Hellebrekers, Hubert J. M. Smeets
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Mitochondrial disorders, characterized by clinical symptoms and/or OXPHOS deficiencies, are caused by pathogenic variants in mitochondrial genes. However, pathogenic variants in some of these genes can lead to clinical manifestations which overlap wi
Externí odkaz:
https://doaj.org/article/47cd824c9ce44759b3f813412a4b8eb1
Autor:
Tom EJ Theunissen, Radek Szklarczyk, Mike Gerards, Debby MEI Hellebrekers, Elvira NM Mulder-Den Hartog, Jo Vanoevelen, Rick Kamps, Bart de Koning, S Lane Rutledge, Thomas Schmitt-Mechelke, Carola GM van Berkel, Marjo S van der Knaap, Irenaeus FM de Coo, Hubert JM Smeets
Publikováno v:
Frontiers in Neurology, Vol 7 (2016)
In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES) go hand-in-hand. Clinical data are essential, not only to guide WES variant selection and define the clinical severi
Externí odkaz:
https://doaj.org/article/769aa808d8e0462fa537e50627b5aa26
Autor:
Rob W. A. Janssen, Dimitrios Kapsokalyvas, Marc A. M. J. van Zandvoort, Martin Strauch, Rodrigo Rosas, Jo Vanoevelen, Dorit Merhof, Miranda Nabben
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Scientific Reports
Scientific reports 11(1), 10160 (2021). doi:10.1038/s41598-021-89566-w
Scientific Reports, 11(1):10160. Nature Publishing Group
Scientific Reports
Scientific reports 11(1), 10160 (2021). doi:10.1038/s41598-021-89566-w
Scientific Reports, 11(1):10160. Nature Publishing Group
Scientific reports 11(1), 10160 (2021). doi:10.1038/s41598-021-89566-w
Published by Macmillan Publishers Limited, part of Springer Nature, [London]
Published by Macmillan Publishers Limited, part of Springer Nature, [London]
Autor:
Jo Vanoevelen, Ana I. Coelho, M. Estela Rubio-Gozalbo, Jörgen Bierau, Laura K.M. Steinbusch, Minela Haskovic, Gerard T. Berry, Eduardo Villamor-Martinez, Luc J. I. Zimmermann
Publikováno v:
Journal of Inherited Metabolic Disease
Since the first description of galactosemia in 1908 and despite decades of research, the pathophysiology is complex and not yet fully elucidated. Galactosemia is an inborn error of carbohydrate metabolism caused by deficient activity of any of the ga
Autor:
Jörgen Bierau, Martijn Lindhout, M. Estela Rubio-Gozalbo, Fokje Zijlstra, Ana I. Coelho, Minela Haskovic, Raisa Veizaj, Dirk Lefeber, Rein Vos, Jo Vanoevelen
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 43, 994-1001
Journal of Inherited Metabolic Disease, 43(5), 994-1001. Wiley
Journal of Inherited Metabolic Disease, 43, 5, pp. 994-1001
Journal of Inherited Metabolic Disease, 43, 994-1001
Journal of Inherited Metabolic Disease, 43(5), 994-1001. Wiley
Journal of Inherited Metabolic Disease, 43, 5, pp. 994-1001
Nucleotide sugars (NS) are fundamental molecules in life and play a key role in glycosylation reactions and signal conduction. Several pathways are involved in the synthesis of NS. The Leloir pathway, the main pathway for galactose metabolism, is cru
Autor:
Britt Delnoy, Minela Haskovic, Jo Vanoevelen, Laura K. M. Steinbusch, Esther Naomi Vos, Kèvin Knoops, Luc J. I. Zimmermann, Marek Noga, Dirk J. Lefeber, Paolo G. V. Martini, Ana I. Coelho, Maria Estela Rubio‐Gozalbo
Publikováno v:
Journal of Inherited Metabolic Disease, 45, 748-758
Journal of Inherited Metabolic Disease, 45(4), 748-758. Wiley
Journal of Inherited Metabolic Disease, 45, 4, pp. 748-758
Journal of Inherited Metabolic Disease, 45(4), 748-758. Wiley
Journal of Inherited Metabolic Disease, 45, 4, pp. 748-758
Contains fulltext : 282590.pdf (Publisher’s version ) (Open Access) Messenger RNA (mRNA) has emerged as a novel therapeutic approach for inborn errors of metabolism. Classic galactosemia (CG) is an inborn error of galactose metabolism caused by a s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52e2f4c19e9e2710f907c35fdb0be565
http://hdl.handle.net/2066/282590
http://hdl.handle.net/2066/282590
Autor:
Elbert A.J. Joosten, Jo Vanoevelen, Ivo Eijkenboom, Maud M.A. Salmans, Roel R. I. van Reij, Nynke J. van den Hoogen
Publikováno v:
European Journal of Pharmacology, 912:174517. Elsevier Science
Dopamine (DA) is an important modulator in nociception and analgesia. Spinal DA receptors are involved in descending modulation of the nociceptive transmission. Genetic variations within DA neurotransmission have been associated with altered pain sen
Autor:
Janneke G. J. Hoeijmakers, Giuseppe Lauria, Ingemar S. J. Merkies, Bianca T. A. de Greef, Stephen G. Waxman, Ivo Eijkenboom, Catharina G. Faber, Monique M. Gerrits, Margherita Marchi, Maurice Sopacua, Jo Vanoevelen, H.J.M. Smeets, Rowida Almomani, Patrick J. Lindsey
Publikováno v:
Journal of Neurology Neurosurgery and Psychiatry, 90(3), 342-352. BMJ Publishing Group
Journal of Neurology, Neurosurgery & Psychiatry
Journal of Neurology, Neurosurgery & Psychiatry
BackgroundNeuropathic pain is common in peripheral neuropathy. Recent genetic studies have linked pathogenic voltage-gated sodium channel (VGSC) variants to human pain disorders. Our aims are to determine the frequency of SCN9A, SCN10A and SCN11A var
Autor:
Rodrigo Rosas, Jo Vanoevelen, Dimitrios Kapsokalyvas, Marc A. M. J. van Zandvoort, Miranda Nabben, Rob W. A. Janssen, Martin Strauch, Dorit Merhof
Imaging in three dimensions is necessary for thick tissues and small organisms. This is possible with tomographic optical microscopy techniques such as confocal, two-photon and light sheet microscopy. All these techniques suffer from anisotropic reso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::670865fa8735361c8a67f35f6edfca04
https://doi.org/10.21203/rs.3.rs-131122/v1
https://doi.org/10.21203/rs.3.rs-131122/v1
Δ9-tetrahydrocannabivarin impairs epithelial calcium transport through inhibition of TRPV5 and TRPV6
Autor:
Annelies Janssens, Cristoforo Silvestri, Thomas Voets, Vincenzo Di Marzo, Jo Vanoevelen, Andrea Martella
Publikováno v:
Pharmacological research
136 (2018): 83–89. doi:10.1016/j.phrs.2018.08.021
info:cnr-pdr/source/autori:Janssens A.; Silvestri C.; Martella A.; Vanoevelen J.M.; Di Marzo V.; Voets T./titolo:?9-tetrahydrocannabivarin impairs epithelial calcium transport through inhibition of TRPV5 and TRPV6/doi:10.1016%2Fj.phrs.2018.08.021/rivista:Pharmacological research (Print)/anno:2018/pagina_da:83/pagina_a:89/intervallo_pagine:83–89/volume:136
Pharmacological Research, 136, 83-89. Elsevier Science
136 (2018): 83–89. doi:10.1016/j.phrs.2018.08.021
info:cnr-pdr/source/autori:Janssens A.; Silvestri C.; Martella A.; Vanoevelen J.M.; Di Marzo V.; Voets T./titolo:?9-tetrahydrocannabivarin impairs epithelial calcium transport through inhibition of TRPV5 and TRPV6/doi:10.1016%2Fj.phrs.2018.08.021/rivista:Pharmacological research (Print)/anno:2018/pagina_da:83/pagina_a:89/intervallo_pagine:83–89/volume:136
Pharmacological Research, 136, 83-89. Elsevier Science
Compounds extracted from the cannabis plant, including the psychoactive Δ9-tetrahydrocannabinol (THC) and related phytocannabinoids, evoke multiple diverse biological actions as ligands of the G protein-coupled cannabinoid receptors CB1 and CB2. In