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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: lemmink h. 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: lemmink hh. 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.
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: lemmink hh. Neurol Genet. 2019 Jan 3;6(1):e386. doi: 10.1212/NXG.0000000000000386. eCollection 2020 Feb. Neurol Genet. 2019. PMID: 32042914 Free PMC article.
Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid.
Piepers S, Cobben JM, Sodaar P, Jansen MD, Wadman RI, Meester-Delver A, Poll-The BT, Lemmink HH, Wokke JH, van der Pol WL, van den Berg LH. Piepers S, et al. Among authors: lemmink hh. J Neurol Neurosurg Psychiatry. 2011 Aug;82(8):850-2. doi: 10.1136/jnnp.2009.200253. Epub 2010 Jun 15. J Neurol Neurosurg Psychiatry. 2011. PMID: 20551479
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: lemmink hh. 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.
Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.
Vermeer FC, Bremer J, Sietsma RJ, Sandilands A, Hickerson RP, Bolling MC, Pasmooij AMG, Lemmink HH, Swertz MA, Knoers NVAM, van der Velde KJ, van den Akker PC. Vermeer FC, et al. Among authors: lemmink hh. Int J Mol Sci. 2021 Nov 12;22(22):12222. doi: 10.3390/ijms222212222. Int J Mol Sci. 2021. PMID: 34830104 Free PMC article. Review.
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