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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2011 1
2012 2
2013 1
2014 3
2015 4
2016 3
2017 4
2018 3
2019 5
2020 9
2021 4
2022 6
2023 1
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36 results
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Page 1
Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome.
Ramirez-Martinez A, Zhang Y, van den Boogaard MJ, McAnally JR, Rodriguez-Caycedo C, Chai AC, Chemello F, Massink MP, Cuppen I, Elferink MG, van Es RJ, Janssen NG, Walraven-van Oijen LP, Liu N, Bassel-Duby R, van Jaarsveld RH, Olson EN. Ramirez-Martinez A, et al. Among authors: cuppen i. J Clin Invest. 2022 Jun 1;132(11):e159002. doi: 10.1172/JCI159002. J Clin Invest. 2022. PMID: 35642635 Free PMC article.
Natural history of respiratory muscle strength in spinal muscular atrophy: a prospective national cohort study.
Veldhoen ES, Wijngaarde CA, Hulzebos EHJ, Wösten-van Asperen RM, Wadman RI, van Eijk RPA, Asselman FL, Stam M, Otto LAM, Cuppen I, Scheijmans FEV, den Oudenrijn LPV, Bartels B, Gaytant MA, van der Ent CK, van der Pol WL. Veldhoen ES, et al. Among authors: cuppen i. Orphanet J Rare Dis. 2022 Feb 21;17(1):70. doi: 10.1186/s13023-022-02227-7. Orphanet J Rare Dis. 2022. PMID: 35189949 Free PMC article.
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
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.
Parents' perspectives on nusinersen treatment for children with spinal muscular atrophy.
van Kruijsbergen M, Schröder CD, Ketelaar M, van der Pol WL, Cuppen I, van der Geest A, Asselman FL, Fischer MJ, Visser-Meily JMA, Kars MC. van Kruijsbergen M, et al. Among authors: cuppen i. Dev Med Child Neurol. 2021 Jul;63(7):816-823. doi: 10.1111/dmcn.14825. Epub 2021 Feb 6. Dev Med Child Neurol. 2021. PMID: 33550591 Free PMC article.
Population-based assessment of nusinersen efficacy in children with spinal muscular atrophy: a 3-year follow-up study.
Scheijmans FEV, Cuppen I, van Eijk RPA, Wijngaarde CA, Schoenmakers MAGC, van der Woude DR, Bartels B, Veldhoen ES, Oude Lansink ILB, Groen EJN, Asselman FL, Wadman RI, van der Pol WL. Scheijmans FEV, et al. Among authors: cuppen i. Brain Commun. 2022 Oct 31;4(6):fcac269. doi: 10.1093/braincomms/fcac269. eCollection 2022. Brain Commun. 2022. PMID: 36382221 Free PMC article.
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.
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Schwantje M, Fuchs SA, de Boer L, Bosch AM, Cuppen I, Dekkers E, Derks TGJ, Ferdinandusse S, Ijlst L, Houtkooper RH, Maase R, van der Pol WL, de Vries MC, Verschoof-Puite RK, Wanders RJA, Williams M, Wijburg F, Visser G. Schwantje M, et al. Among authors: cuppen i. J Inherit Metab Dis. 2022 Jul;45(4):804-818. doi: 10.1002/jimd.12502. Epub 2022 Apr 19. J Inherit Metab Dis. 2022. PMID: 35383965 Free PMC article.
36 results