Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Saskia Koene"'
Autor:
Anna Ka‐Yee Kwong, Virginia Chun‐Nei Wong, Sheila Suet‐Na Wong, Vanessa Loi‐Yan Chu, Saskia Koene, Jan Smeitink, Cheuk‐Wing Fung
Publikováno v:
Epilepsia Open, Vol 6, Iss 4, Pp 685-693 (2021)
Abstract Objective Dravet syndrome (DS) is a severe and intractable form of epilepsy with prolonged seizures which may evolve to other seizure types and associated with mild‐to‐severe intellectual disabilities. Fibroblast growth factor 21 (FGF‐
Externí odkaz:
https://doaj.org/article/ade30fff07e044ef82b2ff57c48f25fe
Autor:
Karlijn Bouman, Jan T. Groothuis, Jonne Doorduin, Nens van Alfen, Floris E. A. Udink ten Cate, Frederik M. A. van den Heuvel, Robin Nijveldt, Willem C. M. van Tilburg, Stan C. F. M. Buckens, Anne T. M. Dittrich, Jos M. T. Draaisma, Mirian C. H. Janssen, Erik-Jan Kamsteeg, Esmee S. B. van Kleef, Saskia Koene, Jan A. M. Smeitink, Benno Küsters, Florence H. J. van Tienen, Hubert J. M. Smeets, Baziel G. M. van Engelen, Corrie E. Erasmus, Nicol C. Voermans
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-14 (2021)
Abstract Background SELENON (SEPN1)-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive proximal muscle weakness, early onset spine rigidity and respiratory insufficiency. A muscular dystrophy caused by mut
Externí odkaz:
https://doaj.org/article/99f6f067662b4ae7948d3919fc82048d
Autor:
Kim F. E. van de Loo, José A. E. Custers, Saskia Koene, Inge-Lot Klein, Mirian C. H. Janssen, Jan A. M. Smeitink, Christianne M. Verhaak
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Mitochondrial diseases (MD) are generally serious and progressive, inherited metabolic diseases. There is a high comorbidity of anxiety and depression and limitations in daily functioning. The complexity and duration of the diagno
Externí odkaz:
https://doaj.org/article/f4b30aa16e6a41bb8597d4e8ed9e6614
Autor:
Liselot van der Laan, Kathleen Rooney, Mariëlle Alders, Raissa Relator, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Peter Lauffer, Mio Aerden, Miel Theunis, Eric Legius, Matthew L. Tedder, Lisenka E. L. M. Vissers, Saskia Koene, Claudia Ruivenkamp, Mariette J. V. Hoffer, Dagmar Wieczorek, Nuria C. Bramswig, Theresia Herget, Vanesa López González, Fernando Santos-Simarro, Pernille M. Tørring, Anne-Sophie Denomme-Pichon, Bertrand Isidor, Boris Keren, Sophie Julia, Elise Schaefer, Christine Francannet, Pierre-Yves Maillard, Mala Misra-Isrie, Hilde Van Esch, Marcel M. A. M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 22, p 13664 (2022)
Clark–Baraitser syndrome is a rare autosomal dominant intellectual disability syndrome caused by pathogenic variants in the TRIP12 (Thyroid Hormone Receptor Interactor 12) gene. TRIP12 encodes an E3 ligase in the ubiquitin pathway. The ubiquitin pa
Externí odkaz:
https://doaj.org/article/86a822caef7443e49d8eb193bb369060
Autor:
José A. E. Custers, Paul de Laat, Saskia Koene, Jan Smeitink, Mirian C. H. Janssen, Christianne Verhaak
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Abstract Background Being diagnosed with mitochondrial disease due to the m.3243A > G mutation is frequently preceded by a long diagnostic process. The disease itself is characterized by heterogeneous course and expression, so leaving patients with c
Externí odkaz:
https://doaj.org/article/b513567736b945ca9fa2502e245994fb
Autor:
Saskia Koene, Edwin Spaans, Luc Van Bortel, Griet Van Lancker, Brant Delafontaine, Fabio Badilini, Julien Beyrath, Jan Smeitink
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-12 (2017)
Abstract Background Mitochondrial disorders are a clinically, biochemically and genetically heterogeneous group of multi-system diseases, with an unmet medical need for treatment. KH176 is an orally bio-available small molecule under development for
Externí odkaz:
https://doaj.org/article/09fd79f686f64b96977b623d3acbd830
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-9 (2017)
Abstract Background More than half of the patients harbouring the m.3243A > G mutation were found to have trouble maintaining balance when walking in a recent study by our group. Others demonstrated that these patients had an abnormal gait pattern, a
Externí odkaz:
https://doaj.org/article/51d2ff557ede4308a6b24e8aa61c0f1a
Autor:
Werner JH Koopman, Julien Beyrath, Cheuk‐Wing Fung, Saskia Koene, Richard J Rodenburg, Peter HGM Willems, Jan AM Smeitink
Publikováno v:
EMBO Molecular Medicine, Vol 8, Iss 4, Pp 311-327 (2016)
Abstract This review presents our current understanding of the pathophysiology and potential treatment strategies with respect to mitochondrial disease in children. We focus on pathologies due to mutations in nuclear DNA‐encoded structural and asse
Externí odkaz:
https://doaj.org/article/ffccdcbae0794df5bbe1c999a2b6c1f3
Autor:
Marieke Lindenschot, Imelda J. M. de Groot, Saskia Koene, Ton Satink, Esther M. J. Steultjens, Maria W. G. Nijhuis-van der Sanden
Publikováno v:
Occupational Therapy International, Vol 2018 (2018)
Background. Engagement in everyday activities is important for the health and wellbeing of children. Children with mitochondrial disorders have impaired energy production leading to limitations in activity. It is unknown which activities these childr
Externí odkaz:
https://doaj.org/article/7b1ac1e44176426e8b275c1edf6a34b3
Autor:
Rob Ramakers, Saskia Koene, Jan T. Groothuis, Paul de Laat, Mirian C. H. Janssen, Jan Smeitink
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-2 (2017)
Externí odkaz:
https://doaj.org/article/9aa56516d5134f9f8ab17290802f6a7f