Publications

Aggregated N-of-1 trials for unlicensed medicines for small populations: an assessment of a trial with ephedrine for myasthenia gravis

Stephanie S. Weinreich, Charlotte Vrinten, Marja R. Kuijpers, Alexander F. Lipka, Kirsten J. M. Schimmel, Erik W. van Zwet, Christine Gispen-de Wied, Yechiel A. Hekster, Jan J. G. M. Verschuuren and Martina C. Cornel

Orphanet Journal of Rare Diseases (2017) 12:88 DOI 10.1186/s13023-017-0636-y

 

A systematic review to investigate the measurement properties of goal attainment scaling, towards use in drug trials

Charlotte M. W. Gaasterland, Marijke C. Jansen-van der Weide, Stephanie S. Weinreich and Johanna H. van der Lee

BMC Medical Research Methodology. 2016,16:99 DOI: 10.1186/s12874-016-0205-4

 

Ephedrine treatment for autoimmune myasthenia gravis

Lipka AF, Vrinten C, van Zwet EW, Schimmel KJ, Cornel MC, Kuijpers MR, Hekster YA, Weinreich SS, Verschuuren JJ.

Neuromuscul Disord. 2017 Mar;27(3):259-265.

 

Ephedrine as add-on therapy for patients with myasthenia gravis: protocol for a series of randomised, placebo-controlled n-of-1 trials


Charlotte Vrinten, Alexander F Lipka, Erik W van Zwet, Kirsten J M Schimmel,  Martina C Cornel, Marja R Kuijpers, Yechiel A Hekster, Stephanie S Weinreich, Jan J G M Verschuuren

BMJ Open 2015;5:e007863 doi:10.1136/bmjopen-2015-007863

 

An n-of-one RCT for intravenous immunoglobulin G for inflammation in hereditary neuropathy with liability to pressure palsy (HNPP)

Charlotte Vrinten, Xin Gu, Stephanie S Weinreich, Mirjam H Schipper, Judith Wessels, Michel D Ferrari, Herbert Hoijtink, Jan J G M Verschuuren

J Neurol Neurosurg Psychiatry published online July 17, 2015

 

Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes.

Vrinten C, van der Zwaag AM, Weinreich SS, Scholten RJPM, Verschuuren JJGM.

Cochrane Database of Systematic Reviews 2014, Issue 12. CD010028.pub2.

 

Current and Best Practices of Genetic Testing for Maturity Onset Diabetes of the Young: Views of Professional Experts.

van der Zwaag AM, Weinreich SS, Bosma AR, Rigter T, Losekoot M, Henneman L, Cornel MC

Public Health Genomics. 2014 Oct 21. [Epub ahead of print]

 

Newborn screening for pompe disease? a qualitative study exploring professional views

van El CG, Rigter T, Reuser AJ, van der Ploeg AT, Weinreich SS, Cornel MC

BMC Pediatrics 2014, 14:203

 

Population-based incidence and prevalence of facioscapulohumeral dystrophy

Deenen JC, Arnts H, van der Maarel SM, Padberg GW, Verschuuren JJ, Bakker E, Weinreich SS, Verbeek AL, van Engelen BG.

Neurology. 2014 Aug 13 [Epub ahead of print]

 

Effects of a simple educational intervention in well-baby clinics on women's knowledge about and intake of folic acid supplements in the periconceptional period: a controlled trial.

de Smit DJ, Weinreich SS, Cornel MC.

Public Health Nutr. 2014 May 27:1-8. [Epub ahead of print]

 

A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands.

Weinreich SS, Bosma A, Henneman L, Rigter T, Spruijt CM, Grimbergen AJ, Breuning MH, de Koning EJ, Losekoot M, Cornel MC.

Eur J Hum Genet. 2014 Apr 16. doi: 10.1038/ejhg.2014.59. [Epub ahead of print]

 

Newborn Screening for Hunter Disease: A Small-Scale Feasibility Study

Ruijter GJ, Goudriaan DA, Boer AM, Van den Bosch J, Van der Ploeg AT, Elvers LH, Weinreich SS, Reuser AJ.

JIMD Rep. 2013 Nov 23. [Epub ahead of print]

Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening.

Rigter T, Weinreich SS, van El CG, de Vries JM, van Gelder CM, Güngör D, Reuser AJ, Hagemans ML, Cornel MC, van der Ploeg AT.

Mol Genet Metab. 2012 Nov;107(3):448-55. doi: 10.1016/j.ymgme.2012.09.017. Epub 2012 Sep 21.

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 – From screening laboratory results to treatment, follow-up and quality assurance

Peter Burgard, Kathrin Rupp, Martin Lindner, Gisela Haege1, Tessel Rigter, Stephanie S. Weinreich, J. Gerard Loeber, Domenica Taruscio, Luciano Vittozzi, Martina C. Cornel and Georg F. Hoffmann

Journal of Inherited Metabolic Disease 2012 DOI 10.1007/s10545-012-9484-z

 

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result.

Loeber JG, Burgard P, Cornel MC, Rigter T, Weinreich SS, Rupp K, Hoffmann GF, Vittozzi L.

J Inherit Metab Dis. 2012 Jul;35(4):603-11. Epub 2012 May 3.

 

Public support for neonatal screening for Pompe disease, a broad-phenotype condition
Weinreich SS, Rigter T, van El CG, Dondorp WJ, Kostense P, van der Ploeg AT, Reuser AJJ, Cornel MC and Hagemans MLC
Orphanet Journal of Rare Diseases 2012, 7:15

 

Raising awareness of carrier testing for hereditary haemoglobinopathies in high-risk ethnic groups in the Netherlands: a pilot study among the general public and primary care providers. 
Weinreich SS, de Lange-de Klerk ESM, Rijmen F, Cornel MC, de Kinderen M, Plass AMC.
Public Health 2009, 9:338.
 

Huisman MH, de Jong SW, van Doormaal PT, Weinreich SS, Schelhaas HJ, van der Kooi AJ, et al. Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology. J Neurol Neurosurg Psychiatry 2011 Oct;82(10):1165-70.

Weinreich SS, Mangon R, Sikkens JJ, Teeuw ME, Cornel MC. [Orphanet: a European database for rare diseases]. Ned Tijdschr Geneeskd 2008 Mar 1;152(9):518-9.

de Groot IJ. [on behalf of a workgroup including SSW] [Guideline on the use of corticosteroids in Duchenne muscular dystrophy from paediatric neurologists, neurologists and rehabilitation physicians]. Ned Tijdschr Geneeskd 2006 Mar 25;150(12):684-5.

Weinreich SS. Multiplex newborn screening for lysosomal storage disorders: feasibility is growing but prediction of phenotype needs elucidation. [Journal club contribution]. Community Genetics 4, 279-280. 2006.

Weinreich SS, Wintzen AR, van Engelen BGM. Modafinil tegen overmatige slaperigheid bij myotone dystrofie. NMZ Bulletin [25], 7. 1-12-2004. The Netherlands, ISNO (Interuniversitair steunpunt neuromusculair onderzoek), Stichting onderzoek neuromusculaire ziekten.

Baudoin P, van der Horst-Bruinsma IE, Dekker-Saeys AJ, Weinreich S, Bezemer PD, Dijkmans BA. Increased risk of developing ankylosing spondylitis among first-born children. Arthritis Rheum 2000 Dec;43(12):2818-22.

Rehakova Z, Capkova J, Stepankova R, Sinkora J, Louzecka A, Ivanyi P, and Weinreich S. Germ-free mice do not develop ankylosing enthesopathy, a spontaneous joint disease. Hum Immunol 2000 Jun;61(6):555-8.

Tran TM, Horejsi V, Weinreich S, Pla M, Breur BS, Capkova J, et al. Strong association of HLA-B27 heavy chain with beta 2-microglobulin. Hum Immunol 2000 Dec;61(12):1197-201.

Weinreich SS, Remmerswaal EB, Laport R, van Rhenen DJ, Rombout-Sastrienkova E, Smit Sibinga CT, et al. Variable leukocyte composition of red blood cell concentrates prepared in top-bottom systems: possible implications for pre-transplant blood transfusion. Vox Sang 2000;79(2):83-6.

Eulderink F, Ivanyi P, Weinreich S. Histopathology of murine ankylosing enthesopathy. Pathol Res Pract 1998;194(11):797-803.

Weinreich SS, Hoebe-Hewryk B, van der Horst AR, Boog CJ, Ivanyi P. The role of MHC class I heterodimer expression in mouse ankylosing enthesopathy. Immunogenetics 1997;46(1):35-40.

Weinreich S, Capkova J, Hoebe-Hewryk B, Boog C, Ivanyi P. Grouped caging predisposes male mice to ankylosing enthesopathy. Ann Rheum Dis 1996 Sep;55(9):645-7.

Weinreich S, Hoebe B, Ivanyi P. Maternal age influences risk for HLA-B27 associated ankylosing enthesopathy in transgenic mice. Ann Rheum Dis 1995 Sep;54(9):754-6.

Weinreich S, Eulderink F, Capkova J, Pla M, Gaede K, Heesemann J, et al. HLA-B27 as a relative risk factor in ankylosing enthesopathy in transgenic mice. Hum Immunol 1995 Feb;42(2):103-15.

Weinreich S, Chopin M, Ivanyi P, Pla M. Naturally occurring arthritis in experimental animals. Clin Exp Rheumatol 1993 May;11 Suppl 9:S9-14.

Weinreich SS, von dem Borne AE, van Lier RA, Feltkamp CA, Slater RM, Wester MR, et al. Characterization of a human plasmacytoma line. Br J Haematol 1991 Oct;79(2):226-34.

Bloemena E, Koopmans RP, Weinreich S, van Boxtel CJ, Schellekens PT. Pharmacodynamic modeling of lymphocytopenia and whole blood lymphocyte cultures in prednisolone-treated individuals. Clin Immunol Immunopathol 1990 Dec;57(3):374-86.

Bloemena E, Weinreich S, Schellekens PT. The influence of prednisolone on the recirculation of peripheral blood lymphocytes in vivo. Clin Exp Immunol 1990 Jun;80(3):460-6.

Bloemena E, Van Oers RH, Weinreich S, Stilma-Meinesz AP, Schellekens PT, van Lier RA. The influence of cyclosporin A on the alternative pathways of human T cell activation in vitro. Eur J Immunol 1989 May;19(5):943-6.

van LR, Bloemena E, Brouwer M, Van HJ, Weinreich S, Aarden L. Studies on the monocyte dependence of T-cell proliferation induced by monoclonal antibodies directed against regions I and II of the CD2 antigen. Immunology 1989 Jul;67(3):333-8.

Bloemena E, van Oers MH, Weinreich S, Yong SL, Schellekens PT. Prednisolone and cyclosporin A exert differential inhibitory effects on T-cell proliferation in vitro. Clin Immunol Immunopathol 1988 Sep;48(3):380-91.

Bloemena E, van Oers MH, Weinreich S, Schellekens PT. Cyclosporin A and prednisolone do not inhibit the expression of high-affinity receptors for interleukin 2. Clin Exp Immunol 1988 Feb;71(2):308-13.