Longitudinal prospective cohort study to assess peripheral motor function with extensive electrophysiological techniques in patients with Spinal Muscular Atrophy (SMA): the SMA Motor Map protocol
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
Published in BMC neurology (24.04.2023)
Published in BMC neurology (24.04.2023)
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Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire
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Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy
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Published in International journal of neonatal screening (15.05.2019)
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Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study
Aragon-Gawinska, Karolina, Seferian, Andreea M, Daron, Aurore, Gargaun, Elena, Vuillerot, Carole, Cances, Claude, Ropars, Juliette, Chouchane, Mondher, Cuppen, Inge, Hughes, Imelda, Illingworth, Marjorie, Marini-Bettolo, Chiara, Rambaud, Jerome, Taytard, Jessica, Annoussamy, Melanie, Scoto, Mariacristina, Gidaro, Teresa, Servais, Laurent
Published in Neurology (02.10.2018)
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Population-based analysis of survival in spinal muscular atrophy
Wijngaarde, Camiel A, Stam, Marloes, Otto, Louise A M, van Eijk, Ruben P A, Cuppen, Inge, Veldhoen, Esther S, van den Berg, Leonard H, Wadman, Renske I, van der Pol, W Ludo
Published in Neurology (14.04.2020)
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Natural course of scoliosis and lifetime risk of scoliosis surgery in spinal muscular atrophy
Wijngaarde, Camiel A, Brink, Rob C, de Kort, Floor A S, Stam, Marloes, Otto, Louise A M, Asselman, Fay-Lynn, Bartels, Bart, van Eijk, Ruben P A, Sombroek, Joyce, Cuppen, Inge, Verhoef, Marjolein, van den Berg, Leonard H, Wadman, Renske I, Castelein, René M, van der Pol, W-Ludo
Published in Neurology (09.07.2019)
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Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen
Aragon‐Gawinska, Karolina, Daron, Aurore, Ulinici, Ana, Vanden Brande, Laura, Seferian, Andreea, Gidaro, Teresa, Scoto, Mariacristina, Deconinck, Nicolas, Servais, Laurent, Benezit, Audrey, Mathieu, Marie‐Laure, Cances, Claude, Durigneux, Julien, Ropars, Juliette, Chouchane, Mondher, Forey, Peggy, Lazaro, Leila, Hughes, Imelda, Illingworth, Marjorie, Marini‐Bettolo, Chiara, Cuppen, Inge, Modrzejewska, Sandra, Balintova, Zdenka, Haberlova, Jana, Drimtzia, Kate, Blaschek, Astrid, Ambegankoar, Gautam, Annoussamy, Melanie
Published in Developmental medicine and child neurology (01.03.2020)
Published in Developmental medicine and child neurology (01.03.2020)
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Quantification of disease progression in spinal muscular atrophy with muscle MRI—a pilot study
Otto, Louise A.M., Froeling, Martijn, Eijk, Ruben P.A., Asselman, Fay‐Lynn, Wadman, Renske, Cuppen, Inge, Hendrikse, Jeroen, Pol, W‐Ludo
Published in NMR in biomedicine (01.04.2021)
Published in NMR in biomedicine (01.04.2021)
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Assessment of motor unit loss in patients with spinal muscular atrophy
Sleutjes, Boudewijn T.H.M., Wijngaarde, Camiel A., Wadman, Renske I., Otto, Louise A.M., Asselman, Fay-Lynn, Cuppen, Inge, van den Berg, Leonard H., van der Pol, W. Ludo, Goedee, H. Stephan
Published in Clinical neurophysiology (01.06.2020)
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Quantitative MRI of skeletal muscle in a cross‐sectional cohort of patients with spinal muscular atrophy types 2 and 3
Otto, Louise A.M., Pol, W‐Ludo, Schlaffke, Lara, Wijngaarde, Camiel A., Stam, Marloes, Wadman, Renske I., Cuppen, Inge, Eijk, Ruben P.A., Asselman, Fay‐Lynn, Bartels, Bart, Woude, Danny, Hendrikse, Jeroen, Froeling, Martijn
Published in NMR in biomedicine (01.10.2020)
Published in NMR in biomedicine (01.10.2020)
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Exploring functional strength changes during nusinersen treatment in symptomatic children with SMA types 2 and 3
van der Woude, Danny R., Wadman, Renske I., Asselman, Fay-Lynn, Schoenmakers, Marja A.G.C., Cuppen, Inge, van der Pol, W. Ludo, Bartels, Bart
Published in Neuromuscular disorders : NMD (01.08.2024)
Published in Neuromuscular disorders : NMD (01.08.2024)
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Natural history of lung function in spinal muscular atrophy
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
Published in Orphanet journal of rare diseases (10.04.2020)
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Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder
Lipstein, Noa, Verhoeven-Duif, Nanda M, Michelassi, Francesco E, Calloway, Nathaniel, van Hasselt, Peter M, Pienkowska, Katarzyna, van Haaften, Gijs, van Haelst, Mieke M, van Empelen, Ron, Cuppen, Inge, van Teeseling, Heleen C, Evelein, Annemieke M V, Vorstman, Jacob A, Thoms, Sven, Jahn, Olaf, Duran, Karen J, Monroe, Glen R, Ryan, Timothy A, Taschenberger, Holger, Dittman, Jeremy S, Rhee, Jeong-Seop, Visser, Gepke, Jans, Judith J, Brose, Nils
Published in The Journal of clinical investigation (01.03.2017)
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De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy
Lee, Jae-Ran, Srour, Myriam, Kim, Doyoun, Hamdan, Fadi. F., Lim, So-Hee, Brunel-Guitton, Catherine, Décarie, Jean-Claude, Rossignol, Elsa, Mitchell, Grant A., Schreiber, Allison, Moran, Rocio, Van Haren, Keith, Richardson, Randal, Nicolai, Joost, Oberndorff, Karin M.E.J., Wagner, Justin D., Boycott, Kym M., Rahikkala, Elisa, Junna, Nella, Tyynismaa, Henna, Cuppen, Inge, Verbeek, Nienke E., Stumpel, Connie T.R.M., Willemsen, Michel A., de Munnik, Sonja A., Rouleau, Guy A., Kim, Eunjoon, Kamsteeg, Erik-Jan, Kleefstra, Tjitske, Michaud, Jacques L.
Published in Human mutation (01.01.2015)
Published in Human mutation (01.01.2015)
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Parents’ perspectives on nusinersen treatment for children with spinal muscular atrophy
Kruijsbergen, Mette, Schröder, Carin D, Ketelaar, Marjolijn, Pol, W Ludo, Cuppen, Inge, Geest, Annette, Asselman, Fay‐Lynn, Fischer, Maarten J, Visser‐Meily, Johanna M A, Kars, Marijke C
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Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome
Ramirez-Martinez, Andres, Zhang, Yichi, van den Boogaard, Marie-Jose, McAnally, John R, Rodriguez-Caycedo, Cristina, Chai, Andreas C, Chemello, Francesco, Massink, Maarten Pg, Cuppen, Inge, Elferink, Martin G, van Es, Robert Jj, Janssen, Nard G, Walraven-van Oijen, Linda Pam, Liu, Ning, Bassel-Duby, Rhonda, van Jaarsveld, Richard H, Olson, Eric N
Published in The Journal of clinical investigation (01.06.2022)
Published in The Journal of clinical investigation (01.06.2022)
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Abnormal coagulation parameters are a common non-neuromuscular feature in patients with spinal muscular atrophy
Wijngaarde, Camiel A, Huisman, Albert, Wadman, Renske I, Cuppen, Inge, Stam, Marloes, Heitink-Pollé, Katja M J, Groen, Ewout J N, Schutgens, Roger E G, van der Pol, W-Ludo
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2020)
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2020)
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Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands
Schwantje, Marit, Fuchs, Sabine A., Boer, Lonneke, Bosch, Annet M., Cuppen, Inge, Dekkers, Eugenie, Derks, Terry G. J., Ferdinandusse, Sacha, Ijlst, Lodewijk, Houtkooper, Riekelt H., Maase, Rose, Pol, W. Ludo, Vries, Maaike C., Verschoof‐Puite, Rendelien K., Wanders, Ronald J. A., Williams, Monique, Wijburg, Frits, Visser, Gepke
Published in Journal of inherited metabolic disease (01.07.2022)
Published in Journal of inherited metabolic disease (01.07.2022)
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