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Ataxia-telangiectasia: recommendations for multidisciplinary treatment.
van Os NJH, Haaxma CA, van der Flier M, Merkus PJFM, van Deuren M, de Groot IJM, Loeffen J, van de Warrenburg BPC, Willemsen MAAP; A-T Study Group. van Os NJH, et al. Among authors: de groot ijm. Dev Med Child Neurol. 2017 Jul;59(7):680-689. doi: 10.1111/dmcn.13424. Epub 2017 Mar 20. Dev Med Child Neurol. 2017. PMID: 28318010 Free article. Review.
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
Verhagen MM, Last JI, Hogervorst FB, Smeets DF, Roeleveld N, Verheijen F, Catsman-Berrevoets CE, Wulffraat NM, Cobben JM, Hiel J, Brunt ER, Peeters EA, Gómez Garcia EB, van der Knaap MS, Lincke CR, Laan LA, Tijssen MA, van Rijn MA, Majoor-Krakauer D, Visser M, van 't Veer LJ, Kleijer WJ, van de Warrenburg BP, Warris A, de Groot IJ, de Groot R, Broeks A, Preijers F, Kremer BH, Weemaes CM, Taylor MA, van Deuren M, Willemsen MA. Verhagen MM, et al. Hum Mutat. 2012 Mar;33(3):561-71. doi: 10.1002/humu.22016. Epub 2012 Jan 25. Hum Mutat. 2012. PMID: 22213089
Sjögren-Larsson syndrome in clinical practice.
Fuijkschot J, Theelen T, Seyger MM, van der Graaf M, de Groot IJ, Wevers RA, Wanders RJ, Waterham HR, Willemsen MA. Fuijkschot J, et al. J Inherit Metab Dis. 2012 Nov;35(6):955-62. doi: 10.1007/s10545-012-9518-6. Epub 2012 Jul 26. J Inherit Metab Dis. 2012. PMID: 22833178 Review.
BMI-z scores of boys with Duchenne muscular dystrophy already begin to increase before losing ambulation: a longitudinal exploration of BMI, corticosteroids and caloric intake.
Houwen-van Opstal SLS, Rodwell L, Bot D, Daalmeyer A, Willemsen MAAP, Niks EH, de Groot IJM. Houwen-van Opstal SLS, et al. Among authors: de groot ijm. Neuromuscul Disord. 2022 Mar;32(3):236-244. doi: 10.1016/j.nmd.2022.01.011. Epub 2022 Feb 9. Neuromuscul Disord. 2022. PMID: 35232615 Free article.
Long-term outcomes for females with early-onset dystrophinopathy.
Houwen-van Opstal SLS, Tak RO, Pelsma M, van den Heuvel FMA, van Duyvenvoorde HA, Cup EHC, Sie LTL, Vles JSH, de Groot IJM, Voermans NC, Willemsen MAAP. Houwen-van Opstal SLS, et al. Among authors: de groot ijm. Dev Med Child Neurol. 2023 Aug;65(8):1093-1104. doi: 10.1111/dmcn.15496. Epub 2022 Dec 23. Dev Med Child Neurol. 2023. PMID: 36562406
148 results