Limited maximal mouth opening in patients with spinal muscular atrophy complicates endotracheal intubation: An observational study

por Wijngaarde, Camiel A., Stam, Marloes, de Kort, Floor A.S., Wadman, Renske I., van der Pol, W. Ludo
Publicado 2018

A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype

por Robaszkiewicz, Katarzyna, Siatkowska, Małgorzata, Wadman, Renske I., Kamsteeg, Erik-Jan, Chen, Zhiyong, Merve, Ashirwad, Parton, Matthew, Bugiardini, Enrico, de Bie, Charlotte, Moraczewska, Joanna
Publicado 2023

A continuous repetitive task to detect fatigability in spinal muscular atrophy

por Stam, Marloes, Wadman, Renske I., Bartels, Bart, Leeuw, Maureen, Westeneng, Henk-Jan, Wijngaarde, Camiel A., van den Berg, Leonard H., van der Pol, W. Ludo
Publicado 2018

Quantification of disease progression in spinal muscular atrophy with muscle MRI—a pilot study

por Otto, Louise A.M., Froeling, Martijn, van Eijk, Ruben P.A., Asselman, Fay‐Lynn, Wadman, Renske, Cuppen, Inge, Hendrikse, Jeroen, van der Pol, W‐Ludo
Publicado 2021

Longitudinal prospective cohort study to assess peripheral motor function with extensive electrophysiological techniques in patients with Spinal Muscular Atrophy (SMA): the SMA Mot...

por Ros, Leandra A. A., Goedee, H. Stephan, Franssen, Hessel, Asselman, Fay-Lynn, Bartels, Bart, Cuppen, Inge, van Eijk, Ruben P. A., Sleutjes, Boudewijn T. H. M., van der Pol, W. Ludo, Wadman, Renske I.
Publicado 2023

Feasibility and tolerability of multimodal peripheral electrophysiological techniques in a cohort of patients with spinal muscular atrophy

por Ros, Leandra A.A., Sleutjes, Boudewijn T.H.M., Stikvoort García, Diederik J.L., Goedee, H. Stephan, Asselman, Fay-Lynn, van den Berg, Leonard H., van der Pol, W. Ludo, Wadman, Renske I.
Publicado 2023

Assessment of fatigability in patients with spinal muscular atrophy: development and content validity of a set of endurance tests

por Bartels, Bart, Habets, Laura E., Stam, Marloes, Wadman, Renske I., Wijngaarde, Camiel A., Schoenmakers, Marja A. G. C., Takken, Tim, Hulzebos, Erik H.J., van der Pol, W. Ludo, de Groot, Janke F.
Publicado 2019

A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls

por Wadman, Renske I., Stam, Marloes, Jansen, Marc D., van der Weegen, Yana, Wijngaarde, Camiel A., Harschnitz, Oliver, Sodaar, Peter, Braun, Kees P. J., Dooijes, Dennis, Lemmink, Henny H., van den Berg, Leonard H., van der Pol, W. Ludo
Publicado 2016

SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis

por Bos, Jeroen W., Groen, Ewout J.N., Wadman, Renske I., Curial, Chantall A.D., Molleman, Naomi N., Zegers, Marinka, van Vught, Paul W.J., Snetselaar, Reinier, Vijzelaar, Raymon, van der Pol, W. Ludo, van den Berg, Leonard H.
Publicado 2021

Quantitative MRI of skeletal muscle in a cross‐sectional cohort of patients with spinal muscular atrophy types 2 and 3

por Otto, Louise A.M., van der Pol, W‐Ludo, Schlaffke, Lara, Wijngaarde, Camiel A., Stam, Marloes, Wadman, Renske I., Cuppen, Inge, van Eijk, Ruben P.A., Asselman, Fay‐Lynn, Bartels, Bart, van der Woude, Danny, Hendrikse, Jeroen, Froeling, Martijn
Publicado 2020

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy

por Wadman, Renske I, Jansen, Marc D, Stam, Marloes, Wijngaarde, Camiel A, Curial, Chantall A D, Medic, Jelena, Sodaar, Peter, Schouten, Jan, Vijzelaar, Raymon, Lemmink, Henny H, van den Berg, Leonard H, Groen, Ewout J N, van der Pol, W Ludo
Publicado 2020

Protocol for a phase II, monocentre, double-blind, placebo-controlled, cross-over trial to assess efficacy of pyridostigmine in patients with spinal muscular atrophy types 2–4 (SPA...

por Stam, Marloes, Wadman, Renske I, Wijngaarde, Camiel A, Bartels, Bart, Asselman, Fay-Lynn, Otto, Louise A M, Goedee, H Stephan, Habets, Laura E, de Groot, Janke F, Schoenmakers, Marja A G C, Cuppen, Inge, van den Berg, Leonard H, van der Pol, W Ludo
Publicado 2018

Population-based assessment of nusinersen efficacy in children with spinal muscular atrophy: a 3-year follow-up study

por Scheijmans, Féline E V, Cuppen, Inge, van Eijk, Ruben P A, Wijngaarde, Camiel A, Schoenmakers, Marja A G C, van der Woude, Danny R, Bartels, Bart, Veldhoen, Esther S, Oude Lansink, Irene L B, Groen, Ewout J N, Asselman, Fay-Lynn, Wadman, Renske I, van der Pol, W Ludo
Publicado 2022

Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy

por Wadman, Renske I., Jansen, Marc D., Curial, Chantall A.D., Groen, Ewout J.N., Stam, Marloes, Wijngaarde, Camiel A., Medic, Jelena, Sodaar, Peter, van Eijk, Kristel R., Huibers, Manon M.H., van Kuik, Joyce, Lemmink, Henny H., van Rheenen, Wouter, Veldink, Jan Herman, van den Berg, Leonard H., van der Pol, W. Ludo
Publicado 2019

Natural history of lung function in spinal muscular atrophy

por Wijngaarde, Camiel A., Veldhoen, Esther S., van Eijk, Ruben P. A., Stam, Marloes, Otto, Louise A. M., Asselman, Fay-Lynn, Wösten-van Asperen, Roelie M., Hulzebos, Erik H. J., Verweij-van den Oudenrijn, Laura P., Bartels, Bart, Cuppen, Inge, Wadman, Renske I., van den Berg, Leonard H., van der Ent, Cornelis K., van der Pol, W. Ludo
Publicado 2020

Natural history of respiratory muscle strength in spinal muscular atrophy: a prospective national cohort study

por Veldhoen, Esther S., Wijngaarde, Camiel A., Hulzebos, Erik H. J., Wösten-van Asperen, Roelie M., Wadman, Renske I., van Eijk, Ruben P. A., Asselman, Fay Lynn, Stam, Marloes, Otto, Louise A. M., Cuppen, Inge, Scheijmans, Feline E. V., den Oudenrijn, Laura P. Verweij-van, Bartels, Bart, Gaytant, Michael A., van der Ent, Cornelis K., van der Pol, W. Ludo
Publicado 2022

Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2–4

por Stam, Marloes, Wijngaarde, Camiel A, Bartels, Bart, Asselman, Fay-Lynn, Otto, Louise A M, Habets, Laura E, van Eijk, Ruben P A, Middelkoop, Bas M, Goedee, H Stephan, de Groot, Janke F, Roes, Kit C B, Schoenmakers, Marja A G C, Nieuwenhuis, Edward E S, Cuppen, Inge, van den Berg, Leonard H, Wadman, Renske I, van der Pol, W Ludo
Publicado 2022

Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study

por Veldhoen, Esther S., Wijngaarde, Camiel A., van Eijk, Ruben P. A., Asselman, Fay-Lynn, Seddiqi, Negina, Otto, Louise A. M., Stam, Marloes, Cuppen, Inge, Wadman, Renske I., van Asperen, Roelie M. Wösten, Hulzebos, Erik H. J., van den Oudenrijn, Laura P. Verweij, Bartels, Bart, Boezer, Jasmijn, Gaytant, M., van der Ent, Cornelis K., van der Pol, W. Ludo
Publicado 2023