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Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants.
Milligan JN, Larson JL, Filipovic-Sadic S, Laosinchai-Wolf W, Huang YW, Ko TM, Abbott KM, Lemmink HH, Toivonen M, Schleutker J, Gentile C, Van Deerlin VM, Zhu H, Latham GJ. Milligan JN, et al. Among authors: lemmink hh. J Mol Diagn. 2021 Jun;23(6):753-764. doi: 10.1016/j.jmoldx.2021.03.004. Epub 2021 Mar 30. J Mol Diagn. 2021. PMID: 33798739 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.
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.
Clinical utility gene card for: proximal spinal muscular atrophy.
Rudnik-Schöneborn S, Eggermann T, Kress W, Lemmink HH, Cobben JM, Zerres K. Rudnik-Schöneborn S, et al. Among authors: lemmink hh. Eur J Hum Genet. 2012 Jun;20(6). doi: 10.1038/ejhg.2012.62. Epub 2012 Apr 18. Eur J Hum Genet. 2012. PMID: 22510849 Free PMC article. No abstract available.
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
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.
Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.
Stalpers XL, Verrips A, Poll-The BT, Cobben JM, Snoeck IN, de Coo IF, Brooks A, Bulk S, Gooskens R, Fock A, Verschuuren-Bemelmans C, Sinke RJ, de Visser M, Lemmink HH. Stalpers XL, et al. Among authors: lemmink hh. Neuromuscul Disord. 2013 Jun;23(6):461-8. doi: 10.1016/j.nmd.2013.03.002. Epub 2013 Apr 6. Neuromuscul Disord. 2013. PMID: 23566544
62 results