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Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants in TAF1A: sentinel event for evolving dilated cardiomyopathy—a case report.
Published in:
European Heart Journal Case Reports, 2023, v. 7, n. 6, p. 1, doi. 10.1093/ehjcr/ytad255
By:
- Bekke, Rachel M A ter;
- Schouwer, Koen de;
- Conti, Sergio;
- Claes, Godelieve R F;
- Vanoevelen, Jo;
- Gommers, Suzanne;
- Enden, Apollonia T J M Helderman-van den;
- Brunner-LaRocca, Hans-Peter
Publication type:
Article
Silencing the SPCA1 (Secretory Pathway Ca<sup>2+</sup>-ATPase Isoform 1) Impairs Ca<sup>2+</sup> Homeostasis in the Golgi and Disturbs Neural Polarity.
Published in:
Journal of Neuroscience, 2009, v. 29, n. 39, p. 12174, doi. 10.1523/JNEUROSCI.2014-09.2009
By:
- Sepúlveda, M. Rosario;
- Vanoevelen, Jo;
- Raeymaekers, Luc;
- Mata, Ana M.;
- Wuytack, Frank
Publication type:
Article
Trpv5/6 is vital for epithelial calcium uptake and bone formation.
Published in:
FASEB Journal, 2011, v. 25, n. 9, p. 3197, doi. 10.1096/fj.11-183145
By:
- Vanoevelen, Jo;
- Janssens, Annelies;
- Huitema, Leonie F. A.;
- Hammond, Christina L.;
- Metz, Juriaan R.;
- Flik, Gert;
- Voets, Thomas;
- Schulte-Merker, Stefan
Publication type:
Article
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 748, doi. 10.1002/jimd.12512
By:
- Delnoy, Britt;
- Haskovic, Minela;
- Vanoevelen, Jo;
- Steinbusch, Laura K. M.;
- Vos, Esther Naomi;
- Knoops, Kèvin;
- Zimmermann, Luc J. I.;
- Noga, Marek;
- Lefeber, Dirk J.;
- Martini, Paolo G. V.;
- Coelho, Ana I.;
- Rubio‐Gozalbo, Maria Estela
Publication type:
Article
Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 994, doi. 10.1002/jimd.12265
By:
- Haskovic, Minela;
- Coelho, Ana I.;
- Lindhout, Martijn;
- Zijlstra, Fokje;
- Veizaj, Raisa;
- Vos, Rein;
- Vanoevelen, Jo M.;
- Bierau, Jörgen;
- Lefeber, Dirk J.;
- Rubio‐Gozalbo, M. Estela
Publication type:
Article
Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 392, doi. 10.1002/jimd.12202
By:
- Haskovic, Minela;
- Coelho, Ana I.;
- Bierau, Jörgen;
- Vanoevelen, Jo M.;
- Steinbusch, Laura K. M.;
- Zimmermann, Luc J. I.;
- Villamor‐Martinez, Eduardo;
- Berry, Gerard T.;
- Rubio‐Gozalbo, M. Estela
Publication type:
Article
Impaired fertility and motor function in a zebrafish model for classic galactosemia.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 117, doi. 10.1007/s10545-017-0071-1
By:
- Vanoevelen, Jo M.;
- van Erven, Britt;
- Bierau, Jörgen;
- Huang, Xiaoping;
- Berry, Gerard T.;
- Vos, Rein;
- Coelho, Ana I.;
- Rubio-Gozalbo, M. Estela
Publication type:
Article
Multiview deconvolution approximation multiphoton microscopy of tissues and zebrafish larvae.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-89566-w
By:
- Kapsokalyvas, Dimitrios;
- Rosas, Rodrigo;
- Janssen, Rob W. A.;
- Vanoevelen, Jo M.;
- Nabben, Miranda;
- Strauch, Martin;
- Merhof, Dorit;
- van Zandvoort, Marc A. M. J.
Publication type:
Article
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Published in:
Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00400
By:
- Theunissen, Tom E. J.;
- Nguyen, Minh;
- Kamps, Rick;
- Hendrickx, Alexandra T.;
- Sallevelt, Suzanne C. E. H.;
- Gottschalk, Ralph W. H.;
- Calis, Chantal M.;
- Stassen, Alphons P. M.;
- de Koning, Bart;
- Mulder-Den Hartog, Elvira N. M.;
- Schoonderwoerd, Kees;
- Fuchs, Sabine A.;
- Hilhorst-Hofstee, Yvonne;
- de Visser, Marianne;
- Vanoevelen, Jo;
- Szklarczyk, Radek;
- Gerards, Mike;
- de Coo, Irenaeus F. M.;
- Hellebrekers, Debby M. E. I.;
- Smeets, Hubert J. M.
Publication type:
Article
DTYMK is essential for genome integrity and neuronal survival.
Published in:
Acta Neuropathologica, 2022, v. 143, n. 2, p. 245, doi. 10.1007/s00401-021-02394-0
By:
- Vanoevelen, Jo M.;
- Bierau, Jörgen;
- Grashorn, Janine C.;
- Lambrichs, Ellen;
- Kamsteeg, Erik-Jan;
- Bok, Levinus A.;
- Wevers, Ron A.;
- van der Knaap, Marjo S.;
- Bugiani, Marianna;
- Frisk, Junmei Hu;
- Colnaghi, Rita;
- O'Driscoll, Mark;
- Hellebrekers, Debby M. E. I.;
- Rodenburg, Richard;
- Ferreira, Carlos R.;
- Brunner, Han G.;
- van den Wijngaard, Arthur;
- Abdel-Salam, Ghada M. H.;
- Wang, Liya;
- Stumpel, Constance T. R. M.
Publication type:
Article
Replication Errors Made During Oogenesis Lead to Detectable De Novo mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number.
Published in:
Genetics, 2016, v. 204, n. 4, p. 1423, doi. 10.1534/genetics.116.194035
By:
- Otten, Auke B. C.;
- Stassen, Alphons P. M.;
- Adriaens, Michiel;
- Gerards, Mike;
- Dohmen, Richard G. J.;
- Timmer, Adriana J.;
- Vanherle, Sabina J. V.;
- Kamps, Rick;
- Boesten, Iris B. W.;
- Vanoevelen, Jo M.;
- Muller, Marc;
- Smeets, Hubert J. M.
Publication type:
Article
Specific MRIi Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.
Published in:
Frontiers in Neurology, 2016, v. 7, p. 1, doi. 10.3389/fneur.2016.00203
By:
- Theunissen, Tom E. J.;
- Szklarczyk, Radek;
- Gerards, Mike;
- Hellebrekers, Debby M. E. I.;
- Mulder-Den Hartog, Elvira N. M.;
- Vanoevelen, Jo;
- Kamps, Rick;
- de Koning, Bart;
- Rutledge, S. Lane;
- Schmitt-Mechelke, Thomas;
- van Berkel, Carola G. M.;
- van der Knaap, Marjo S.;
- de Coo, Irenaeus F. M.;
- Smeets, Hubert J. M.
Publication type:
Article

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