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17 results

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Page 1
Broad variation in phenotypes for common GAA genotypes in Pompe disease.
Niño MY, In't Groen SLM, de Faria DOS, Hoogeveen-Westerveld M, van den Hout HJMP, van der Ploeg AT, Bergsma AJ, Pijnappel WWMP. Niño MY, et al. Among authors: in t groen slm. Hum Mutat. 2021 Nov;42(11):1461-1472. doi: 10.1002/humu.24272. Epub 2021 Sep 8. Hum Mutat. 2021. PMID: 34405923 Free PMC article.
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
Large-Scale Expansion of Human iPSC-Derived Skeletal Muscle Cells for Disease Modeling and Cell-Based Therapeutic Strategies.
van der Wal E, Herrero-Hernandez P, Wan R, Broeders M, In 't Groen SLM, van Gestel TJM, van IJcken WFJ, Cheung TH, van der Ploeg AT, Schaaf GJ, Pijnappel WWMP. van der Wal E, et al. Stem Cell Reports. 2018 Jun 5;10(6):1975-1990. doi: 10.1016/j.stemcr.2018.04.002. Epub 2018 May 3. Stem Cell Reports. 2018. PMID: 29731431 Free PMC article.
The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease.
Kuperus E, van der Meijden JC, In 't Groen SLM, Kroos MA, Hoogeveen-Westerveld M, Rizopoulos D, Martinez MYN, Kruijshaar ME, van Doorn PA, van der Beek NAME, van der Ploeg AT, Pijnappel WWMP. Kuperus E, et al. PLoS One. 2018 Dec 7;13(12):e0208854. doi: 10.1371/journal.pone.0208854. eCollection 2018. PLoS One. 2018. PMID: 30532252 Free PMC article. Clinical Trial.
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. 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.
A genetic modifier of symptom onset in Pompe disease.
Bergsma AJ, In 't Groen SLM, van den Dorpel JJA, van den Hout HJMP, van der Beek NAME, Schoser B, Toscano A, Musumeci O, Bembi B, Dardis A, Morrone A, Tummolo A, Pasquini E, van der Ploeg AT, Pijnappel WWMP. Bergsma AJ, et al. Among authors: in t groen slm. EBioMedicine. 2019 May;43:553-561. doi: 10.1016/j.ebiom.2019.03.048. Epub 2019 Mar 25. EBioMedicine. 2019. PMID: 30922962 Free PMC article.
17 results