Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Inge Cuppen"'
Autor:
Leandra A. A. Ros, H. Stephan Goedee, Hessel Franssen, Fay-Lynn Asselman, Bart Bartels, Inge Cuppen, Ruben P. A. van Eijk, Boudewijn T. H. M. Sleutjes, W. Ludo van der Pol, Renske I. Wadman
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-10 (2023)
Abstract Background Hereditary spinal muscular atrophy (SMA) is a motor neuron disorder with a wide range in severity in children and adults. Two therapies that alter splicing of the Survival Motor Neuron 2 (SMN2) gene, i.e. nusinersen and risdiplam,
Externí odkaz:
https://doaj.org/article/169d5ad51da045bc99d594927ccda3e4
Autor:
Esther S. Veldhoen, Camiel A. Wijngaarde, Ruben P. A. van Eijk, Fay-Lynn Asselman, Negina Seddiqi, Louise A. M. Otto, Marloes Stam, Inge Cuppen, Renske I. Wadman, Roelie M. Wösten van Asperen, Erik H. J. Hulzebos, Laura P. Verweij van den Oudenrijn, Bart Bartels, Jasmijn Boezer, M. Gaytant, Cornelis K. van der Ent, W. Ludo van der Pol
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Progressive lung function decline, resulting in respiratory failure, is an important complication of spinal muscular atrophy (SMA). The ability to predict the need for mechanical ventilation is important. We assessed longitudinal
Externí odkaz:
https://doaj.org/article/28db6b5241394763846f3233ab257034
Autor:
Esther S. Veldhoen, Camiel A. Wijngaarde, Erik H. J. Hulzebos, Roelie M. Wösten-van Asperen, Renske I. Wadman, Ruben P. A. van Eijk, Fay Lynn Asselman, Marloes Stam, Louise A. M. Otto, Inge Cuppen, Feline E. V. Scheijmans, Laura P. Verweij-van den Oudenrijn, Bart Bartels, Michael A. Gaytant, Cornelis K. van der Ent, W. Ludo van der Pol
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background Respiratory complications are the most important cause of morbidity and mortality in spinal muscular atrophy (SMA). Respiratory muscle weakness results in impaired cough, recurrent respiratory tract infections and eventually can c
Externí odkaz:
https://doaj.org/article/1818e61a2f75437dbdf8d9990c67346e
Autor:
Andres Ramirez-Martinez, Yichi Zhang, Marie-Jose van den Boogaard, John R. McAnally, Cristina Rodriguez-Caycedo, Andreas C. Chai, Francesco Chemello, Maarten P.G. Massink, Inge Cuppen, Martin G. Elferink, Robert J.J. van Es, Nard G. Janssen, Linda P.A.M. Walraven-van Oijen, Ning Liu, Rhonda Bassel-Duby, Richard H. van Jaarsveld, Eric N. Olson
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 11 (2022)
Skeletal muscle fibers contain hundreds of nuclei, which increase the overall transcriptional activity of the tissue and perform specialized functions. Multinucleation occurs through myoblast fusion, mediated by the muscle fusogens Myomaker (MYMK) an
Externí odkaz:
https://doaj.org/article/02c0f12272764eacacedd89bd47117d6
Autor:
Camiel A. Wijngaarde, Esther S. Veldhoen, Ruben P. A. van Eijk, Marloes Stam, Louise A. M. Otto, Fay-Lynn Asselman, Roelie M. Wösten-van Asperen, Erik H. J. Hulzebos, Laura P. Verweij-van den Oudenrijn, Bart Bartels, Inge Cuppen, Renske I. Wadman, Leonard H. van den Berg, Cornelis K. van der Ent, W. Ludo van der Pol
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Respiratory muscle weakness is an important feature of spinal muscular atrophy (SMA). Progressive lung function decline is the most important cause of mortality and morbidity in patients. The natural history of lung function in SM
Externí odkaz:
https://doaj.org/article/f182cf230f634071ac63e27ea2df3bf0
Autor:
Judith M. Lionarons, Imelda J. M. de Groot, Johanna M. Fock, Sylvia Klinkenberg, Desiree M. J. Vrijens, Anita C. E. Vreugdenhil, Evita G. Medici-van den Herik, Inge Cuppen, Bregje Jaeger, Erik H. Niks, Rinske Hoogerhuis, Nicky Platte-van Attekum, Frans J. M. Feron, Catharina G. Faber, Jos G. M. Hendriksen, Johan S. H. Vles
Publikováno v:
Life, Vol 11, Iss 8, p 772 (2021)
Introduction: Lower urinary tract symptoms (LUTS) and gastrointestinal (GI) problems are common in Duchenne muscular dystrophy (DMD), but not systematically assessed in regular care. We aimed to determine the prevalence of bladder and bowel dysfuncti
Externí odkaz:
https://doaj.org/article/c7e45e695c26411fb4585e2c4dcd430f
Autor:
Marit Schwantje, Sabine A. Fuchs, Lonneke de Boer, Annet M. Bosch, Inge Cuppen, Eugenie Dekkers, Terry G. J. Derks, Sacha Ferdinandusse, Lodewijk Ijlst, Riekelt H. Houtkooper, Rose Maase, W. Ludo van der Pol, Maaike C. de Vries, Rendelien K. Verschoof‐Puite, Ronald J. A. Wanders, Monique Williams, Frits Wijburg, Gepke Visser
Publikováno v:
Schwantje, M, Fuchs, S A, de Boer, L, Bosch, A M, Cuppen, I, Dekkers, E, Derks, T G J, Ferdinandusse, S, Ijlst, L, Houtkooper, R H, Maase, R, van der Pol, W L, de Vries, M C, Verschoof-Puite, R K, Wanders, R J A, Williams, M, Wijburg, F & Visser, G 2022, ' Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands ', Journal of Inherited Metabolic Disease, vol. 45, no. 4, pp. 804-818 . https://doi.org/10.1002/jimd.12502
Journal of Inherited Metabolic Disease, 45(4), 804-818. Springer Netherlands
Journal of inherited metabolic disease, 45(4), 804-818. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(4), 804-818. SPRINGER
Journal of Inherited Metabolic Disease, 45, 804-818
Journal of Inherited Metabolic Disease, 45, 4, pp. 804-818
Journal of Inherited Metabolic Disease, 45(4), 804-818. Springer Netherlands
Journal of inherited metabolic disease, 45(4), 804-818. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(4), 804-818. SPRINGER
Journal of Inherited Metabolic Disease, 45, 804-818
Journal of Inherited Metabolic Disease, 45, 4, pp. 804-818
Contains fulltext : 283151.pdf (Publisher’s version ) (Open Access) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is included in many newborn screening (NBS) programs. Acylcarnitine-based NBS for LCHADD not only identifies LCHADD,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eac31efe736b5ab73a20fdbf76edccd1
https://doi.org/10.1002/jimd.12502
https://doi.org/10.1002/jimd.12502
Autor:
Irene L. B. Oude Lansink, P. C. Carolien van Stam, Eline C. W. M. Schafrat, Manouk Mocking, S. Dido Prins, Anita Beelen, Inge Cuppen, W. Ludo van der Pol, Jan Willem Gorter, Marjolijn Ketelaar
Publikováno v:
Child: Care, Health and Development. 48:1062-1070
Parents of children with spinal muscular atrophy (SMA) often struggle with the all-consuming nature of the demands of caring for a child with substantial physical needs. Our aim was to explore experiences, challenges and needs of parents of a child w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21a68ce11c1a35d9876fbec329c292d7
https://doi.org/10.1111/cch.13014
https://doi.org/10.1111/cch.13014
Autor:
W.L. van der Pol, R.P.A. van Eijk, L. van den Engel-Hoek, Inge Cuppen, Renske I. Wadman, Fay-Lynn Asselman, Rutger A.J. Nievelstein, E Gerrits, A M B van der Heul
Publikováno v:
Dysphagia, 37, 715-723
Dysphagia, 37, 4, pp. 715-723
Dysphagia, 37, 4, pp. 715-723
Mastication problems can have a negative impact on the intake of food and quality of life. This cross-sectional study characterizes mastication problems using clinical and instrumental assessments in patients with spinal muscular atrophy (SMA) types
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a7c74ec7f2614b2f5d779c02d6d3396
https://hdl.handle.net/2066/287134
https://hdl.handle.net/2066/287134
Autor:
Marloes Stam, Camiel A Wijngaarde, Bart Bartels, Fay-Lynn Asselman, Louise A M Otto, Laura E Habets, Ruben P A van Eijk, Bas M Middelkoop, H Stephan Goedee, Janke F de Groot, Kit C B Roes, Marja A G C Schoenmakers, Edward E S Nieuwenhuis, Inge Cuppen, Leonard H van den Berg, Renske I Wadman, W Ludo van der Pol
Publikováno v:
Brain Communications, 5
Brain Communications, 5, 1
Brain Communications, 5, 1
Hereditary proximal spinal muscular atrophy causes weakness and increased fatigability of repetitive motor functions. The neuromuscular junction is anatomically and functionally abnormal in patients with spinal muscular atrophy. Pharmacological impro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21143b70317859320feacf01880264ea
http://hdl.handle.net/2066/289329
http://hdl.handle.net/2066/289329
