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Page 1
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.
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H. Ylikallio E, et al. Among authors: cuppen i. Brain. 2017 Aug 1;140(8):2093-2103. doi: 10.1093/brain/awx138. Brain. 2017. PMID: 28633435 Free article.
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.
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
Natural course of scoliosis and lifetime risk of scoliosis surgery in spinal muscular atrophy.
Wijngaarde CA, Brink RC, de Kort FAS, Stam M, Otto LAM, Asselman FL, Bartels B, van Eijk RPA, Sombroek J, Cuppen I, Verhoef M, van den Berg LH, Wadman RI, Castelein RM, van der Pol WL. Wijngaarde CA, et al. Among authors: cuppen i. Neurology. 2019 Jul 9;93(2):e149-e158. doi: 10.1212/WNL.0000000000007742. Epub 2019 Jun 4. Neurology. 2019. PMID: 31164393
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
Natural history of lung function in spinal muscular atrophy.
Wijngaarde CA, Veldhoen ES, van Eijk RPA, Stam M, Otto LAM, Asselman FL, Wösten-van Asperen RM, Hulzebos EHJ, Verweij-van den Oudenrijn LP, Bartels B, Cuppen I, Wadman RI, van den Berg LH, van der Ent CK, van der Pol WL. Wijngaarde CA, et al. Among authors: cuppen i. Orphanet J Rare Dis. 2020 Apr 10;15(1):88. doi: 10.1186/s13023-020-01367-y. Orphanet J Rare Dis. 2020. PMID: 32276635 Free PMC article.
52 results