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Page 1
Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy.
Franken M, van der Wal E, Zheng D, den Hamer B, van der Vliet PJ, Lemmers RJLF, van den Heuvel A, Dorn AL, Duivenvoorden CGA, In't Groen SLM, Freund C, Eussen B, Tawil R, van Engelen BGM, Pijnappel PWWMP, van der Maarel SM, de Greef JC. Franken M, et al. Among authors: in t groen slm. Brain. 2024 Nov 18:awae379. doi: 10.1093/brain/awae379. Online ahead of print. Brain. 2024. PMID: 39556762
Highly contractile 3D tissue engineered skeletal muscles from human iPSCs reveal similarities with primary myoblast-derived tissues.
van der Wal E, Iuliano A, In 't Groen SLM, Bholasing AP, Priesmann D, Sharma P, den Hamer B, Saggiomo V, Krüger M, Pijnappel WWMP, de Greef JC. van der Wal E, et al. Among authors: in t groen slm. Stem Cell Reports. 2023 Oct 10;18(10):1954-1971. doi: 10.1016/j.stemcr.2023.08.014. Epub 2023 Sep 28. Stem Cell Reports. 2023. PMID: 37774701 Free PMC article.
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Gragnaniello V, Pijnappel PWWM, Burlina AP, In 't Groen SLM, Gueraldi D, Cazzorla C, Maines E, Polo G, Salviati L, Di Salvo G, Burlina AB. Gragnaniello V, et al. Among authors: in t groen slm. Mol Genet Metab Rep. 2022 Oct 22;33:100929. doi: 10.1016/j.ymgmr.2022.100929. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36310651 Free PMC article.
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening.
Lee NC, Chang KL, In 't Groen SLM, de Faria DOS, Huang HJ, Pijnappel WWMP, Hwu WL, Chien YH. Lee NC, et al. Among authors: in t groen slm. J Pediatr. 2022 May;244:139-147.e2. doi: 10.1016/j.jpeds.2021.12.072. Epub 2022 Jan 4. J Pediatr. 2022. PMID: 34995642 Free article.
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.
Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.
In 't Groen SLM, de Faria DOS, Iuliano A, van den Hout JMP, Douben H, Dijkhuizen T, Cassiman D, Witters P, Barba Romero MÁ, de Klein A, Somers-Bolman GM, Saris JJ, Hoefsloot LH, van der Ploeg AT, Bergsma AJ, Pijnappel WWMP. In 't Groen SLM, et al. Mol Ther Methods Clin Dev. 2020 Jan 13;17:337-348. doi: 10.1016/j.omtm.2019.12.016. eCollection 2020 Jun 12. Mol Ther Methods Clin Dev. 2020. PMID: 32071926 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.
15 results