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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: van der pol wl. 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.
A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls.
Wadman RI, Stam M, Jansen MD, van der Weegen Y, Wijngaarde CA, Harschnitz O, Sodaar P, Braun KP, Dooijes D, Lemmink HH, van den Berg LH, van der Pol WL. Wadman RI, et al. Among authors: van der pol wl, van den berg lh, van der weegen y. PLoS One. 2016 Nov 28;11(11):e0167087. doi: 10.1371/journal.pone.0167087. eCollection 2016. PLoS One. 2016. PMID: 27893852 Free PMC article. Clinical Trial.
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: van der pol wl, van den berg lh. 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: van der pol wl, van hasselt pm. 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
Drug treatment for spinal muscular atrophy type I.
Wadman RI, van der Pol WL, Bosboom WM, Asselman FL, van den Berg LH, Iannaccone ST, Vrancken AF. Wadman RI, et al. Among authors: van der pol wl, van den berg lh. Cochrane Database Syst Rev. 2019 Dec 11;12(12):CD006281. doi: 10.1002/14651858.CD006281.pub5. Cochrane Database Syst Rev. 2019. PMID: 31825542 Free PMC article.
Drug treatment for spinal muscular atrophy types II and III.
Wadman RI, van der Pol WL, Bosboom WM, Asselman FL, van den Berg LH, Iannaccone ST, Vrancken AF. Wadman RI, et al. Among authors: van der pol wl, van den berg lh. Cochrane Database Syst Rev. 2020 Jan 6;1(1):CD006282. doi: 10.1002/14651858.CD006282.pub5. Cochrane Database Syst Rev. 2020. PMID: 32006461 Free PMC article.
Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy.
Wadman RI, Jansen MD, Curial CAD, Groen EJN, Stam M, Wijngaarde CA, Medic J, Sodaar P, van Eijk KR, Huibers MMH, van Kuik J, Lemmink HH, van Rheenen W, Veldink JH, van den Berg LH, van der Pol WL. Wadman RI, et al. Among authors: van eijk kr, van der pol wl, van den berg lh, van kuik j, van rheenen w. Neurol Genet. 2019 Jan 3;6(1):e386. doi: 10.1212/NXG.0000000000000386. eCollection 2020 Feb. Neurol Genet. 2019. PMID: 32042914 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: van der pol wl, van eijk rpa, van den berg lh, van der ent ck. 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.
217 results