Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Renske I Wadman"'
Autor:
Renske I Wadman, Marloes Stam, Marc D Jansen, Yana van der Weegen, Camiel A Wijngaarde, Oliver Harschnitz, Peter Sodaar, Kees P J Braun, Dennis Dooijes, Henny H Lemmink, Leonard H van den Berg, W Ludo van der Pol
Publikováno v:
PLoS ONE, Vol 11, Iss 11, p e0167087 (2016)
Clinical trials to test safety and efficacy of drugs for patients with spinal muscular atrophy (SMA) are currently underway. Biomarkers that document treatment-induced effects are needed because disease progression in childhood forms of SMA is slow a
Externí odkaz:
https://doaj.org/article/e99f54abe7b64ae79f3fd84102bb4fb4
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:
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
Publikováno v:
The Lancet Neurology. 21:585-587
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a68f39f1c570ce8a70adddc34005162e
https://doi.org/10.1016/s1474-4422(22)00190-9
https://doi.org/10.1016/s1474-4422(22)00190-9
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
Autor:
Federica Trucco, Tracey Davis, Renske I. Wadman, Lucia Schottlaender, Mariacristina Scoto, Chiara Brusa, Ramona De Amicis, Giovanni Baranello, Marion Main, Pinki Munot, Adnan Y. Manzur, Francesco Muntoni, Nadia Imbrigiotta, Anna Sarkozy, Simona Bertoli, Alberto Battezzati, Chiara Mastella
Publikováno v:
Neuromuscular Disorders. 31:101-112
Disease course of feeding difficulties in spinal muscular atrophy type 2 is not well documented. Disease-modifying therapies rapidly change the trajectory of motor function and survival in spinal muscular atrophy, but effects on co-morbidities like b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8178e029c5198cfa4fbd6ebf87de3528
https://doi.org/10.1016/j.nmd.2020.12.007
https://doi.org/10.1016/j.nmd.2020.12.007