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Page 1
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
Bleeker JC, Kok IL, Ferdinandusse S, van der Pol WL, Cuppen I, Bosch AM, Langeveld M, Derks TGJ, Williams M, de Vries M, Mulder MF, Gozalbo ER, de Sain-van der Velden MGM, Rennings AJ, Schielen PJCI, Dekkers E, Houtkooper RH, Waterham HR, Pras-Raves ML, Wanders RJA, van Hasselt PM, Schoenmakers M, Wijburg FA, Visser G. Bleeker JC, et al. Among authors: cuppen i. J Inherit Metab Dis. 2019 May;42(3):414-423. doi: 10.1002/jimd.12075. Epub 2019 Apr 8. J Inherit Metab Dis. 2019. PMID: 30761551
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 (SPACE trial).
Stam M, Wadman RI, Wijngaarde CA, Bartels B, Asselman FL, Otto LAM, Goedee HS, Habets LE, de Groot JF, Schoenmakers MAGC, Cuppen I, van den Berg LH, van der Pol WL. Stam M, et al. Among authors: cuppen i. BMJ Open. 2018 Jul 30;8(7):e019932. doi: 10.1136/bmjopen-2017-019932. BMJ Open. 2018. PMID: 30061431 Free PMC article.
Bulbar Problems Self-Reported by Children and Adults with Spinal Muscular Atrophy.
van der Heul AMB, Wijngaarde CA, Wadman RI, Asselman F, van den Aardweg MTA, Bartels B, Cuppen I, Gerrits E, van den Berg LH, van der Pol WL, van den Engel-Hoek L. van der Heul AMB, et al. Among authors: cuppen i. J Neuromuscul Dis. 2019;6(3):361-368. doi: 10.3233/JND-190379. J Neuromuscul Dis. 2019. PMID: 31476167
Population-based analysis of survival in spinal muscular atrophy.
Wijngaarde CA, Stam M, Otto LAM, van Eijk RPA, Cuppen I, Veldhoen ES, van den Berg LH, Wadman RI, van der Pol WL. Wijngaarde CA, et al. Among authors: cuppen i. Neurology. 2020 Apr 14;94(15):e1634-e1644. doi: 10.1212/WNL.0000000000009248. Epub 2020 Mar 26. Neurology. 2020. PMID: 32217777
Assessment of motor unit loss in patients with spinal muscular atrophy.
Sleutjes BTHM, Wijngaarde CA, Wadman RI, Otto LAM, Asselman FL, Cuppen I, van den Berg LH, van der Pol WL, Goedee HS. Sleutjes BTHM, et al. Among authors: cuppen i. Clin Neurophysiol. 2020 Jun;131(6):1280-1286. doi: 10.1016/j.clinph.2020.01.018. Epub 2020 Feb 13. Clin Neurophysiol. 2020. PMID: 32305855
Relative hyperventilation in non-ventilated patients with spinal muscular atrophy.
Veldhoen ES, Wijngaarde CA, Verweij-van den Oudenrijn LP, Asselman FL, Wösten-van Asperen RM, Hulzebos EHJ, van der Ent K, Cuppen I, Gaytant MA, van Eijk RPA, van der Pol WL. Veldhoen ES, et al. Among authors: cuppen i. Eur Respir J. 2020 Nov 19;56(5):2000162. doi: 10.1183/13993003.00162-2020. Print 2020 Nov. Eur Respir J. 2020. PMID: 32586880 Free PMC article.
Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy.
Strunk A, Abbes A, Stuitje AR, Hettinga C, Sepers EM, Snetselaar R, Schouten J, Asselman FL, Cuppen I, Lemmink H, van der Pol WL, Engel H. Strunk A, et al. Among authors: cuppen i. Int J Neonatal Screen. 2019 May 15;5(2):21. doi: 10.3390/ijns5020021. eCollection 2019 Jun. Int J Neonatal Screen. 2019. PMID: 33072980 Free PMC article.
53 results