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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: schoenmakers m. 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: schoenmakers magc. BMJ Open. 2018 Jul 30;8(7):e019932. doi: 10.1136/bmjopen-2017-019932. BMJ Open. 2018. PMID: 30061431 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: schoenmakers magc. Brain Commun. 2022 Oct 31;4(6):fcac269. doi: 10.1093/braincomms/fcac269. eCollection 2022. Brain Commun. 2022. PMID: 36382221 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: schoenmakers magc. Brain Commun. 2022 Dec 9;5(1):fcac324. doi: 10.1093/braincomms/fcac324. eCollection 2023. Brain Commun. 2022. PMID: 36632180 Free PMC article.
Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0-4.
Wadman RI, Stam M, Gijzen M, Lemmink HH, Snoeck IN, Wijngaarde CA, Braun KP, Schoenmakers MA, van den Berg LH, Dooijes D, van der Pol WL. Wadman RI, et al. Among authors: schoenmakers ma. J Neurol Neurosurg Psychiatry. 2017 Apr;88(4):365-367. doi: 10.1136/jnnp-2016-314292. Epub 2017 Jan 20. J Neurol Neurosurg Psychiatry. 2017. PMID: 28108522 No abstract available.
64 results