Pijnappel WWMP - Search Results

1

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.

Labrijn-Marks I, Somers-Bolman GM, In 't Groen SLM, Hoogeveen-Westerveld M, Kroos MA, Ala-Mello S, Amaral O, Miranda CS, Mavridou I, Michelakakis H, Naess K, Verheijen FW, Hoefsloot LH, Dijkhuizen T, Benjamins M, van den Hout HJM, van der Ploeg AT, Pijnappel WWMP, Saris JJ, Halley DJ. Labrijn-Marks I, et al. Among authors: pijnappel wwmp. Eur J Hum Genet. 2019 Jun;27(6):919-927. doi: 10.1038/s41431-019-0348-y. Epub 2019 Feb 8. Eur J Hum Genet. 2019. PMID: 30737479 Free PMC article.

2

Absolute quantification of the total and antidrug antibody-bound concentrations of recombinant human α-glucosidase in human plasma using protein G extraction and LC-MS/MS.

Bronsema KJ, Bischoff R, Pijnappel WW, van der Ploeg AT, van de Merbel NC. Bronsema KJ, et al. Anal Chem. 2015 Apr 21;87(8):4394-401. doi: 10.1021/acs.analchem.5b00169. Epub 2015 Apr 7. Anal Chem. 2015. PMID: 25802928

3

208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26-28 September 2014.

Schoser B, Laforêt P, Kruijshaar ME, Toscano A, van Doorn PA, van der Ploeg AT; European Pompe Consortium (EPOC). Schoser B, et al. Neuromuscul Disord. 2015 Aug;25(8):674-8. doi: 10.1016/j.nmd.2015.04.006. Epub 2015 Apr 21. Neuromuscul Disord. 2015. PMID: 25998612 No abstract available.

4

Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.

Schaaf GJ, van Gestel TJ, Brusse E, Verdijk RM, de Coo IF, van Doorn PA, van der Ploeg AT, Pijnappel WW. Schaaf GJ, et al. Acta Neuropathol Commun. 2015 Oct 28;3:65. doi: 10.1186/s40478-015-0243-x. Acta Neuropathol Commun. 2015. PMID: 26510925 Free PMC article.

5

Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease.

Wens SC, Schaaf GJ, Michels M, Kruijshaar ME, van Gestel TJ, In 't Groen S, Pijnenburg J, Dekkers DH, Demmers JA, Verdijk LB, Brusse E, van Schaik RH, van der Ploeg AT, van Doorn PA, Pijnappel WW. Wens SC, et al. Circ Cardiovasc Genet. 2016 Feb;9(1):6-13. doi: 10.1161/CIRCGENETICS.115.001322. Epub 2016 Jan 19. Circ Cardiovasc Genet. 2016. PMID: 26787432

6

Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.

de Vries JM, Kuperus E, Hoogeveen-Westerveld M, Kroos MA, Wens SC, Stok M, van der Beek NA, Kruijshaar ME, Rizopoulos D, van Doorn PA, van der Ploeg AT, Pijnappel WW. de Vries JM, et al. Genet Med. 2017 Jan;19(1):90-97. doi: 10.1038/gim.2016.70. Epub 2016 Jun 30. Genet Med. 2017. PMID: 27362911 Free article.

7

From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides.

Bergsma AJ, In 't Groen SL, Verheijen FW, van der Ploeg AT, Pijnappel WWMP. Bergsma AJ, et al. Among authors: pijnappel wwmp. Mol Ther Nucleic Acids. 2016 Sep 13;5(9):e361. doi: 10.1038/mtna.2016.75. Mol Ther Nucleic Acids. 2016. PMID: 27623443 Free PMC article.

8

Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.

Vollebregt AAM, Hoogeveen-Westerveld M, Kroos MA, Oussoren E, Plug I, Ruijter GJ, van der Ploeg AT, Pijnappel WWMP. Vollebregt AAM, et al. Among authors: pijnappel wwmp. Dev Med Child Neurol. 2017 Oct;59(10):1063-1070. doi: 10.1111/dmcn.13467. Epub 2017 May 25. Dev Med Child Neurol. 2017. PMID: 28543354 Free article.

9

GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells.

van der Wal E, Bergsma AJ, van Gestel TJM, In 't Groen SLM, Zaehres H, Araúzo-Bravo MJ, Schöler HR, van der Ploeg AT, Pijnappel WWMP. van der Wal E, et al. Among authors: pijnappel wwmp. Mol Ther Nucleic Acids. 2017 Jun 16;7:101-115. doi: 10.1016/j.omtn.2017.03.002. Epub 2017 Mar 14. Mol Ther Nucleic Acids. 2017. PMID: 28624186 Free PMC article.

10

Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease.

van der Wal E, Bergsma AJ, Pijnenburg JM, van der Ploeg AT, Pijnappel WWMP. van der Wal E, et al. Among authors: pijnappel wwmp. Mol Ther Nucleic Acids. 2017 Jun 16;7:90-100. doi: 10.1016/j.omtn.2017.03.001. Epub 2017 Mar 14. Mol Ther Nucleic Acids. 2017. PMID: 28624228 Free PMC article.

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