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Spinocerebellar Ataxia Type 1 Characteristics in Patient-Derived Fibroblast and iPSC-Derived Neuronal Cultures.
Buijsen RAM, Hu M, Sáez-González M, Notopoulou S, Mina E, Koning W, Gardiner SL, van der Graaf LM, Daoutsali E, Pepers BA, Mei H, van Dis V, Frimat JP, van den Maagdenberg AMJM, Petrakis S, van Roon-Mom WMC. Buijsen RAM, et al. Among authors: pepers ba. Mov Disord. 2023 Aug;38(8):1428-1442. doi: 10.1002/mds.29446. Epub 2023 Jun 6. Mov Disord. 2023. PMID: 37278528
Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B.
Buijsen RAM, Gardiner SL, Bouma MJ, van der Graaf LM, Boogaard MW, Pepers BA, Eussen B, de Klein A, Freund C, van Roon-Mom WMC. Buijsen RAM, et al. Among authors: pepers ba. Stem Cell Res. 2018 May;29:125-128. doi: 10.1016/j.scr.2018.03.018. Epub 2018 Apr 5. Stem Cell Res. 2018. PMID: 29656178 Free article.
Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease.
van der Graaf LM, Gardiner SL, Tok M, Brands T, Boogaard MW, Pepers BA, Eussen B, de Klein A, Aziz NA, Freund C, Buijsen RAM, van Roon-Mom WMC. van der Graaf LM, et al. Among authors: pepers ba. Stem Cell Res. 2019 Aug;39:101498. doi: 10.1016/j.scr.2019.101498. Epub 2019 Jul 12. Stem Cell Res. 2019. PMID: 31326748 Free article.
Antisense Oligonucleotide-Induced Amyloid Precursor Protein Splicing Modulation as a Therapeutic Approach for Dutch-Type Cerebral Amyloid Angiopathy.
Daoutsali E, Hailu TT, Buijsen RAM, Pepers BA, van der Graaf LM, Verbeek MM, Curtis D, de Vlaam T, van Roon-Mom WMC. Daoutsali E, et al. Among authors: pepers ba. Nucleic Acid Ther. 2021 Oct;31(5):351-363. doi: 10.1089/nat.2021.0005. Epub 2021 May 31. Nucleic Acid Ther. 2021. PMID: 34061681 Free PMC article.
Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patient.
Daoutsali E, Buijsen RAM, van de Pas S, Jong A', Mikkers H, Brands T, Eussen B, de Klein A, van der Graaf LM, Pepers BA, Freund C, Terwindt GM, Orlova VV, van Roon-Mom WMC. Daoutsali E, et al. Among authors: pepers ba. Stem Cell Res. 2019 Jan;34:101359. doi: 10.1016/j.scr.2018.101359. Epub 2018 Dec 14. Stem Cell Res. 2019. PMID: 30611017 Free article. English.
Targeting several CAG expansion diseases by a single antisense oligonucleotide.
Evers MM, Pepers BA, van Deutekom JC, Mulders SA, den Dunnen JT, Aartsma-Rus A, van Ommen GJ, van Roon-Mom WM. Evers MM, et al. Among authors: pepers ba. PLoS One. 2011;6(9):e24308. doi: 10.1371/journal.pone.0024308. Epub 2011 Sep 1. PLoS One. 2011. PMID: 21909428 Free PMC article.
Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology.
Fulgencio-Covián A, Álvarez M, Pepers BA, López-Márquez A, Ugarte M, Pérez B, van Roon-Mom WMC, Desviat LR, Richard E. Fulgencio-Covián A, et al. Among authors: pepers ba. Stem Cell Res. 2020 Dec;49:102055. doi: 10.1016/j.scr.2020.102055. Epub 2020 Oct 17. Stem Cell Res. 2020. PMID: 33128956 Free article.
23 results