Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Renske I Wadman"'
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:
Leandra A.A. Ros, Boudewijn T.H.M. Sleutjes, Diederik J.L. Stikvoort García, H. Stephan Goedee, Fay-Lynn Asselman, Leonard H. van den Berg, W. Ludo van der Pol, Renske I. Wadman
Publikováno v:
Clinical Neurophysiology Practice, Vol 8, Iss , Pp 123-131 (2023)
Objective: Electrophysiological techniques are emerging as an aid in identifying prognostic or therapeutic biomarkers in patients with spinal muscular atrophy (SMA), but electrophysiological assessments may be burdensome for patients. We, therefore,
Externí odkaz:
https://doaj.org/article/db3b77b3bb4d4bf9aa63de999e1d3536
Autor:
Katarzyna Robaszkiewicz, Małgorzata Siatkowska, Renske I. Wadman, Erik-Jan Kamsteeg, Zhiyong Chen, Ashirwad Merve, Matthew Parton, Enrico Bugiardini, Charlotte de Bie, Joanna Moraczewska
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 22, p 16147 (2023)
A novel variant of unknown significance c.8A > G (p.Glu3Gly) in TPM3 was detected in two unrelated families. TPM3 encodes the transcript variant Tpm3.12 (NM_152263.4), the tropomyosin isoform specifically expressed in slow skeletal muscle fibers. The
Externí odkaz:
https://doaj.org/article/deff2e4f2b5f4386a039e032b45df582
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:
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:
Bart Bartels, Laura E. Habets, Marloes Stam, Renske I. Wadman, Camiel A. Wijngaarde, Marja A. G. C. Schoenmakers, Tim Takken, Erik H.J. Hulzebos, W. Ludo van der Pol, Janke F. de Groot
Publikováno v:
BMC Neurology, Vol 19, Iss 1, Pp 1-10 (2019)
Abstract Background Fatigability has emerged as an important dimension of physical impairment in patients with Spinal Muscular Atrophy (SMA). At present reliable and valid outcome measures for both mildly and severely affected patients are lacking. T
Externí odkaz:
https://doaj.org/article/17ef6173ffbd46d892a08f0e858c2d0b
Autor:
Marloes Stam, Renske I. Wadman, Bart Bartels, Maureen Leeuw, Henk-Jan Westeneng, Camiel A. Wijngaarde, Leonard H. van den Berg, W. Ludo van der Pol
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Abstract Background To determine the value of a continuous repetitive task to detect and quantify fatigability as additional dimension of impaired motor function in patients with hereditary proximal spinal muscular atrophy (SMA). Results In this repe
Externí odkaz:
https://doaj.org/article/b3f9850b90184cc084fb13cdfa461df4
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
