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Modelling the neuropathology of lysosomal storage disorders through disease-specific human induced pluripotent stem cells.
Kobolák J, Molnár K, Varga E, Bock I, Jezsó B, Téglási A, Zhou S, Lo Giudice M, Hoogeveen-Westerveld M, Pijnappel WP, Phanthong P, Varga N, Kitiyanant N, Freude K, Nakanishi H, László L, Hyttel P, Dinnyés A. Kobolák J, et al. Exp Cell Res. 2019 Jul 15;380(2):216-233. doi: 10.1016/j.yexcr.2019.04.021. Epub 2019 Apr 27. Exp Cell Res. 2019. PMID: 31039347 Free article.
The genotype-phenotype correlation in Pompe disease.
Kroos M, Hoogeveen-Westerveld M, van der Ploeg A, Reuser AJ. Kroos M, et al. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):59-68. doi: 10.1002/ajmg.c.31318. Epub 2012 Jan 17. Am J Med Genet C Semin Med Genet. 2012. PMID: 22253258 Review.
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism.
Canibano-Fraile R, Harlaar L, Dos Santos CA, Hoogeveen-Westerveld M, Demmers JAA, Snijders T, Lijnzaad P, Verdijk RM, van der Beek NAME, van Doorn PA, van der Ploeg AT, Brusse E, Pijnappel WWMP, Schaaf GJ. Canibano-Fraile R, et al. Among authors: hoogeveen westerveld m. J Inherit Metab Dis. 2023 Jan;46(1):101-115. doi: 10.1002/jimd.12560. Epub 2022 Oct 17. J Inherit Metab Dis. 2023. PMID: 36111639 Free PMC article.
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Hum Mutat. 2011 Apr;32(4):424-35. doi: 10.1002/humu.21451. Epub 2011 Mar 8. Hum Mutat. 2011. PMID: 21309039
60 results