Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Klary E. Niezen-Koning"'
Autor:
Anouk G. Groenen, Anouk M. La Rose, Mengying Li, Venetia Bazioti, Arthur F. Svendsen, Niels J. Kloosterhuis, Albertina Ausema, Alle Pranger, M. Rebecca Heiner-Fokkema, Klary E. Niezen-Koning, Tom Houben, Ronit Shiri-Sverdlov, Marit Westerterp
Publikováno v:
Journal of Lipid Research, Vol 63, Iss 2, Pp 100167- (2022)
Niemann-Pick type C1 (NPC1) disease is a progressive lysosomal storage disorder caused by mutations of the NPC1 gene. While neurodegeneration is the most severe symptom, a large proportion of NPC1 patients also present with splenomegaly, which has be
Externí odkaz:
https://doaj.org/article/d9955d3f851b4a07a0a7d11d236a62ca
Autor:
Elze R. Timmers, J. Casper Swarte, Ranko Gacesa, Johannes R. Björk, Rinse K. Weersma, Marina A. J. Tijssen, Tom J. de Koning, Hermie J. M. Harmsen, Klary E. Niezen-Koning
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 3, p 2383 (2023)
Dystonia is a movement disorder in which patients have involuntary abnormal movements or postures. Non-motor symptoms, such as psychiatric symptoms, sleep problems and fatigue, are common. We hypothesise that the gut microbiome might play a role in t
Externí odkaz:
https://doaj.org/article/97a55b1f11d14514ade296904549ae8e
Autor:
Archibold Mposhi, Lin Liang, Kevin P. Mennega, Dilemin Yildiz, Crista Kampert, Ingrid H. Hof, Pytrick G. Jellema, Tom J. de Koning, Klaas Nico Faber, Marcel H. J. Ruiters, Klary E. Niezen-Koning, Marianne G. Rots
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 4, p 2197 (2022)
Mutations in either mitochondrial DNA (mtDNA) or nuclear genes that encode mitochondrial proteins may lead to dysfunctional mitochondria, giving rise to mitochondrial diseases. Some mitochondrial myopathies, however, present without a known underlyin
Externí odkaz:
https://doaj.org/article/e688bf36180349f185121c1f58f82ea5
Autor:
Elze R. Timmers, Torsten Plösch, Marenka Smit, Ingrid H. Hof, Rikst Nynke Verkaik-Schakel, Marina A. J. Tijssen, Tom J. de Koning, Klary E. Niezen-Koning
Publikováno v:
Clinical Epigenetics, 14(1):170. BMC
Background Dystonia is a rare movement disorder, in which patients suffer from involuntary twisting movements or abnormal posturing. Next to these motor symptoms, patients have a high prevalence of psychiatric comorbidity, suggesting a role for serot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3ca8a225db4561eeae4db583d63a15c
https://doi.org/10.1186/s13148-022-01384-7
https://doi.org/10.1186/s13148-022-01384-7
Autor:
Archibold Mposhi, Lin Liang, Kevin P. Mennega, Dilemin Yildiz, Crista Kampert, Ingrid H. Hof, Pytrick G. Jellema, Tom J. de Koning, Klaas Nico Faber, Marcel H. J. Ruiters, Klary E. Niezen-Koning, Marianne G. Rots
Publikováno v:
International Journal of Molecular Sciences, 23(4):2197. MDPI AG
International Journal of Molecular Sciences; Volume 23; Issue 4; Pages: 2197
International Journal of Molecular Sciences; Volume 23; Issue 4; Pages: 2197
Mutations in either mitochondrial DNA (mtDNA) or nuclear genes that encode mitochondrial proteins may lead to dysfunctional mitochondria, giving rise to mitochondrial diseases. Some mitochondrial myopathies, however, present without a known underlyin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::326500edf33ede62fc7c8808de281720
https://pubmed.ncbi.nlm.nih.gov/35216315
https://pubmed.ncbi.nlm.nih.gov/35216315
Autor:
David Cheillan, Stella De Man, Suzanna G.M. Frints, Antonia Ribes Rubio, HATEM AZZOUZ, Klary E Niezen-Koning, Efraim Rosenberg, Carla Valongo, Sarina Kant, KATRIN OUNAP
Publikováno v:
Molecular Genetics and Metabolism, 105(4), 596-601. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 105(4), 596-601. Academic Press Inc.
Molecular Genetics and Metabolism, 105, 596-601
Betsalel, O T, Pop, A, Rosenberg, E H, Fernandez-Ojeda, M, Jakobs, C A J M & Salomons, G S 2012, ' Detection of variants in SLC6A8 and functional analysis of unclassified missense variants ', Molecular Genetics and Metabolism, vol. 105, no. 4, pp. 596-601 . https://doi.org/10.1016/j.ymgme.2011.12.022
Molecular Genetics and Metabolism, 105, 4, pp. 596-601
Molecular Genetics and Metabolism, 105(4), 596-601. Academic Press Inc.
Molecular Genetics and Metabolism, 105, 596-601
Betsalel, O T, Pop, A, Rosenberg, E H, Fernandez-Ojeda, M, Jakobs, C A J M & Salomons, G S 2012, ' Detection of variants in SLC6A8 and functional analysis of unclassified missense variants ', Molecular Genetics and Metabolism, vol. 105, no. 4, pp. 596-601 . https://doi.org/10.1016/j.ymgme.2011.12.022
Molecular Genetics and Metabolism, 105, 4, pp. 596-601
Item does not contain fulltext Creatine transporter deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. Currently, 38 pathogenic, including 15 missense variants, are reported. In this study, we report 33 novel, including 6 miss
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc9ae52f281961e053d3c517781e1147
https://cris.maastrichtuniversity.nl/en/publications/d080454e-26b4-4a1a-a10c-7b27ead35fbc
https://cris.maastrichtuniversity.nl/en/publications/d080454e-26b4-4a1a-a10c-7b27ead35fbc
Publikováno v:
Journal of Inherited Metabolic Disease, 21(3), 227-231. SPRINGER
University of Groningen
University of Groningen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c22f5a3272674a93fad34d7338f9ac62
https://research.rug.nl/en/publications/a7dd8202-27d8-4056-9cd4-01e84e426616
https://research.rug.nl/en/publications/a7dd8202-27d8-4056-9cd4-01e84e426616
Publikováno v:
Molecular Genetics and Metabolism. 93:32
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::37efa09b27286cab5a862f67323ad56f
https://doi.org/10.1016/j.ymgme.2007.10.083
https://doi.org/10.1016/j.ymgme.2007.10.083
Autor:
Jan Peter Rake, Annelies M. ten Berge, Gepke Visser, Edwin Verlind, Klary E. Niezen-Koning, Charles H.C.M. Buys, G. Peter A. Smit, Hans Scheffer
Publikováno v:
Human Mutation. 15:381
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a105506b282df6039c0751a9b77f2493
https://doi.org/10.1002/(sici)1098-1004(200004)15:4<381::aid-humu13>3.3.co
https://doi.org/10.1002/(sici)1098-1004(200004)15:4<381::aid-humu13>3.3.co
Autor:
Jp, Rake, francjan van spronsen, Visser, G., Ruitenbeek, W., Jj, Schweizer, Cma, Bijleveld, Pmjg, Peeters, Koert de Jong, Mjh, Slooff, Dirk-Jan Reijngoud, Klary E Niezen-Koning, Gpa, Smit
Publikováno v:
University of Groningen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9bf3fd0c7fd23232c441e02992a5922a
https://research.rug.nl/en/publications/fa7683ce-d3ee-4087-813c-5e1543f25e93
https://research.rug.nl/en/publications/fa7683ce-d3ee-4087-813c-5e1543f25e93