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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 4
2024 2

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40 results

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Page 1
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 LAA, Goedee HS, Franssen H, Asselman FL, Bartels B, Cuppen I, van Eijk RPA, Sleutjes BTHM, van der Pol WL, Wadman RI. Ros LAA, et al. Among authors: cuppen i. BMC Neurol. 2023 Apr 24;23(1):164. doi: 10.1186/s12883-023-03207-5. BMC Neurol. 2023. PMID: 37095427 Free PMC article.
Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study.
Veldhoen ES, Wijngaarde CA, van Eijk RPA, Asselman FL, Seddiqi N, Otto LAM, Stam M, Cuppen I, Wadman RI, van Asperen RMW, Hulzebos EHJ, van den Oudenrijn LPV, Bartels B, Boezer J, Gaytant M, van der Ent CK, van der Pol WL. Veldhoen ES, et al. Among authors: cuppen i. Orphanet J Rare Dis. 2023 Feb 23;18(1):40. doi: 10.1186/s13023-023-02634-4. Orphanet J Rare Dis. 2023. PMID: 36823666 Free PMC article.
Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2-4.
Stam M, Wijngaarde CA, Bartels B, Asselman FL, Otto LAM, Habets LE, van Eijk RPA, Middelkoop BM, Goedee HS, de Groot JF, Roes KCB, Schoenmakers MAGC, Nieuwenhuis EES, Cuppen I, van den Berg LH, Wadman RI, van der Pol WL. Stam M, et al. Among authors: cuppen i. Brain Commun. 2022 Dec 9;5(1):fcac324. doi: 10.1093/braincomms/fcac324. eCollection 2023. Brain Commun. 2022. PMID: 36632180 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.
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.
'This battle, between your gut feeling and your mind. Try to find the right balance': Parental experiences of children with spinal muscular atrophy during COVID-19 pandemic.
Oude Lansink ILB, van Stam PCC, Schafrat ECWM, Mocking M, Prins SD, Beelen A, Cuppen I, van der Pol WL, Gorter JW, Ketelaar M. Oude Lansink ILB, et al. Among authors: cuppen i. Child Care Health Dev. 2022 Nov;48(6):1062-1070. doi: 10.1111/cch.13014. Epub 2022 Apr 26. Child Care Health Dev. 2022. PMID: 35445450 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.
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.
40 results