Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Fay Lynn Asselman"'
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:
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:
Kim Kant-Smits, Bart Bartels, Fay-Lynn Asselman, Esther S. Veldhoen, Ruben P. A. van Eijk, W. Ludo van der Pol, Erik H. J. Hulzebos
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-11 (2023)
Abstract Background Spinal Muscular Atrophy (SMA) is characterized by progressive and predominantly proximal and axial muscle atrophy and weakness. Respiratory muscle weakness results in impaired cough with recurrent respiratory tract infections, noc
Externí odkaz:
https://doaj.org/article/181dd340bbd04614bd74aecd493a1479
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:
Bart Bartels, Janke F. de Groot, Laura E. Habets, Camiel A. Wijngaarde, Wendy Vink, Marloes Stam, Fay-Lynn Asselman, Ruben P. A. van Eijk, W. Ludo van der Pol
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background To determine construct validity and test-retest reliability of Endurance Shuttle Tests as outcome measures for fatigability of remaining motor functions in children and adults with Spinal Muscular Atrophy (SMA) across the severity
Externí odkaz:
https://doaj.org/article/eac1a0ba8eba4fefb1c4f3a6043dbd46
Autor:
Laura E, Habets, Bart, Bartels, Fay-Lynn, Asselman, Erik H J, Hulzebos, Dick F, Stegeman, Jeroen A L, Jeneson, W Ludo, van der Pol
Publikováno v:
Journal of Neuromuscular Diseases. 9:397-409
Background: Exercise intolerance is an important impairment in patients with SMA, but little is known about the mechanisms underlying this symptom. Objective: To investigate if reduced motor unit and capillary recruitment capacity in patients with SM
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
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
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
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 patterns
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2414b9c1832dcc46233ff19e7306967
https://doi.org/10.21203/rs.3.rs-2083566/v1
https://doi.org/10.21203/rs.3.rs-2083566/v1